gene_symbol g2p_id g2p_disease_name g2p_disease_mondo g2p_confidence g2p_mechanism g2p_reviewed_pmid_count dismech_candidate_count dismech_direct_candidate_count best_dismech_match_class best_dismech_file best_dismech_disease_name best_dismech_disease_mondo best_match_reasons best_shared_hpo_count best_shared_section_reviewed_pmid_count best_shared_disease_reviewed_pmid_count related_direct_disorders related_direct_match_count row_status curation_priority curation_action curation_note AAAS G2P00650 AAAS-related chalasia-addisonianism-alacrima syndrome MONDO:0009279 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AAGAB G2P03606 AAGAB-related palmoplantar keratoderma, punctate type MONDO:0007858 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AARS1 G2P00811 AARS1-related early-onset epileptic encephalopathy with persistent myelination defect MONDO:0014593 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AASS G2P00701 AASS-related hyperlysinemia MONDO:0009388 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABAT G2P02973 ABAT-related GABA-transaminase deficiency definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABCA1 G2P02074 ABCA1-related Tangier disease MONDO:0008783 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABCA12 G2P02723 ABCA12-related ichthyosis harlequin MONDO:0009443 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABCA2 G2P03715 ABCA2-related intellectual developmental disorder with poor growth and with or without seizures or ataxia MONDO:0032930 moderate loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABCA5 G2P03618 ABCA5-related hypertrichosis, congenital generalised, with gingival hyperplasia MONDO:0007610 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABCB11 G2P00547 ABCB11-related intrahepatic cholestasis MONDO:0011156 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABCB6 G2P03684 ABCB6-related dyschromatosis universalis hereditaria MONDO:0014169 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABCB6 G2P00318 ABCB6-related microphthalmia, isolated, with coloboma MONDO:0013783 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABCB7 G2P00928 ABCB7-related anemia, sideroblastic, with ataxia definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABCC6 G2P00120 ABCC6-related arterial calcification, generalized, of infancy MONDO:0013768 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABCC6 G2P02075 ABCC6-related pseudoxanthoma elasticum MONDO:0009925 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABCC9 G2P03442 ABCC9-related Cantu Syndrome MONDO:0009406 definitive gain of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABCC9 G2P03825 ABCC9-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABCC9 G2P03920 ABCC9-related intellectual disability, myopathy and white matter abnormalities MONDO:0859224 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABCD1 G2P00786 ABCD1-related adrenoleukodystrophy MONDO:0018544 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABCD4 G2P00488 ABCD4-related methylmalonic aciduria and homocystinuria, cblJ type strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABCG5 G2P02507 ABCG5-related sitosterolemia MONDO:0020748 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABCG8 G2P02508 ABCG8-related sitosterolemia MONDO:0020747 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABHD12 G2P01945 ABHD12-related polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MONDO:0012984 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABHD16A G2P03211 ABHD16A-related spastic paraplegia, intellectual disability and thin corpus callosum MONDO:0030673 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABHD5 G2P00888 ABHD5-related ichthyotic neutral lipid storage disease MONDO:0010155 definitive loss of function 20 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ABL1 G2P02256 ABL1-related congenital heart defects and skeletal malformations MONDO:0060532 strong gain of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACAD9 G2P01143 ACAD9-related acyl-CoA dehydrogenase family member type 9 deficiency definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACADM G2P00491 ACADM-related medium chain acyl-CoA dehydrogenase deficiency MONDO:0008721 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACADS G2P00672 ACADS-related short chain acyl-CoA dehydrogenase deficiency MONDO:0008722 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACAN G2P01488 ACAN-related spondyloepimetaphyseal dysplasia, aggrecan type MONDO:0013014 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACAN G2P00055 ACAN-related spondyloepiphyseal dysplasia MONDO:0012019 definitive loss of function 14 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACBD5 G2P01946 ACBD5-related deficiency MONDO:0030026 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACBD6 G2P00748 ACBD6-related intellectual developmental disorder MONDO:0968976 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACD G2P03362 ACD-related dyskeratosis congenita MONDO:0014690 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACER3 G2P03230 ACER3-related leukodystrophy strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACO2 G2P00900 ACO2-related infantile cerebellar-retinal degeneration MONDO:0013802 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACO2 G2P02046 ACO2-related optic atrophy MONDO:0014571 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACOX1 G2P00625 ACOX1-related adrenoleukodystrophy pseudoneonatal MONDO:0009919 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACP5 G2P01177 ACP5-related spondyloenchondrodysplasia with immune dysregulation MONDO:0011939 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACSL4 G2P01199 ACSL4-related intellectual developmental disorder MONDO:0010313 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACTB G2P00126 ACTB-related Baraitser-Winter syndrome MONDO:0009470 definitive gain of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACTB G2P01977 ACTB-related haploinsufficiency syndrome strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACTG1 G2P01638 ACTG1-related Baraitser-Winter syndrome MONDO:0013812 definitive gain of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACTG1 G2P02076 ACTG1-related isolated ocular coloboma limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACTL6B G2P02779 ACTL6B-related epileptic encephalopathy, early infantile MONDO:0032768 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACTL6B G2P02780 ACTL6B-related intellectual developmental disorder with severe speech and ambulation defects MONDO:0032770 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACTN2 G2P03717 ACTN2-related cardiac and skeletal myopathy MONDO:0000591 definitive undetermined 17 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACVR2B G2P00465 ACVR2B-related heterotaxy syndrome MONDO:0013403 limited undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ACY1 G2P00909 ACY1-related aminoacylase 1 deficiency MONDO:0012368 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADA G2P00698 ADA-related adenosine deaminase deficiency MONDO:0007064 definitive loss of function 17 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADAM17 G2P03601 ADAM17-related inflammatory skin and bowel disease, neonatal MONDO:0017411 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADAM22 G2P03333 ADAM22-related developmental and epileptic encephalopathy MONDO:0033370 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADAM9 G2P01921 ADAM9-related cone-rod dystrophy MONDO:0013002 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADAMTS10 G2P01947 ADAMTS10-related Weill-Marchesani syndrome MONDO:0010194 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADAMTS15 G2P03420 ADAMTS15-related distal arthrogryposis MONDO:0957819 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADAMTS17 G2P01948 ADAMTS17-related Weill-Marchesani-like syndrome MONDO:0013176 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADAMTS18 G2P02048 ADAMTS18-related microcornea, myopic chorioretinal atrophy, and telecanthus MONDO:0014195 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADAMTS19 G2P03739 ADAMTS19-related cardiac valvular dysplasia MONDO:0859572 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADAMTS9 G2P02635 ADAMTS9-related nephronophthisis related ciliopathy MONDO:0009728 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADAMTSL1 G2P02347 ADAMTSL1-related syndromic congenital glaucoma limited dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADAMTSL2 G2P02828 ADAMTSL2-related geleophysic dysplasia MONDO:0009269 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADAMTSL4 G2P01949 ADAMTSL4-related ectopia lentis, isolated MONDO:0009152 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADAR G2P01438 ADAR-related Aicardi-Goutieres syndrome associated with a type I interferon signature MONDO:0014007 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADAR G2P02845 ADAR-related Aicardi-Goutieres syndrome associated with a type I interferon signature MONDO:0014007 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADAR G2P00013 ADAR-related dyschromatosis symmetrica hereditaria MONDO:0007483 definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADARB1 G2P02943 ADARB1-related microcephaly, intellectual disability, and seizures MONDO:0030025 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADCY5 G2P02885 ADCY5-related developmental disorder MONDO:0700092 strong undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADGRA3 G2P02123 ADGRA3-related non-syndromic retinitis pigmentosa MONDO:0019200 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADGRE2 G2P03629 ADGRE2-related vibratory urticaria MONDO:0007447 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADGRG1 G2P00195 ADGRG1-related polymicrogyria definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADGRG6 G2P01671 ADGRG6-related lethal congenital contracture syndrome MONDO:0014670 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADGRV1 G2P01950 ADGRV1-related Usher syndrome MONDO:0011558 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADIPOR1 G2P01952 ADIPOR1-related syndromic retinitis pigmentosa limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADK G2P00813 ADK-related intellectual developmental disorder MONDO:0100255 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADNP G2P01021 ADNP-related neurodevelopmental disorder (Helsmoortel-Van der Aa Syndrome) definitive loss of function 20 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADPRS G2P02627 ADPRS-related neurodegeneration with developmental delay ataxia and axonal neuropathy MONDO:0100095 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADRA2B G2P00688 ADRA2B-related intellectual developmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ADSL G2P00673 ADSL-related adenylosuccinase deficiency definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AEBP1 G2P03630 AEBP1-related Ehlers-Danlos syndrome, classic-like MONDO:0054813 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AFF2 G2P00121 AFF2-related fragile X-E intellectual developmental disorder MONDO:0010659 definitive undetermined 16 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AFF3 G2P03581 AFF3-related intellectual disability MONDO:0001071 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AFF3 G2P01978 AFF3-related KINSSHIP syndrome MONDO:0851095 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AFF4 G2P01447 AFF4-related Cornelia de Lange-like syndrome definitive gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AFG2A G2P01678 AFG2A-related epilepsy, hearing loss, and intellectual developmental disorder syndrome definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AFG2B G2P03210 AFG2B-related sensorineural hearing loss and intellectual disability MONDO:0859206 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AFG3L2 G2P03166 AFG3L2-related ataxia and seizures MONDO:0013776 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AGA G2P00114 AGA-related aspartylglucosaminuria MONDO:0008830 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AGBL1 G2P01984 AGBL1-related late-onset Fuchs corneal dystrophy MONDO:0014228 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AGBL5 G2P01953 AGBL5-related retinitis pigmentosa MONDO:0014871 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AGO1 G2P02852 AGO1-related developmental disorder MONDO:0859531 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AGPAT2 G2P02670 AGPAT2-related lipodystrophy, congenital generalised MONDO:0012071 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AGPAT3 G2P03533 AGPAT3-related intellectual disability and retinitis pigmentosa limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AGPS G2P00018 AGPS-related rhizomelic chondrodysplasia punctata MONDO:0010823 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AGTPBP1 G2P02989 AGTPBP1-related neurodegeneration, childhood-onset, with cerebellar atrophy MONDO:0032650 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AGXT G2P01307 AGXT-related hyperoxaluria, primary MONDO:0009823 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AHDC1 G2P01588 AHDC1-related Xia-Gibbs syndrome MONDO:0014358 definitive loss of function 19 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AHR G2P02427 AHR-related retinitis pigmentosa MONDO:0032689 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AIFM1 G2P01641 AIFM1-related combined oxidative phosphorylation deficiency strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AIMP1 G2P01336 AIMP1-related leukodystrophy, hypomyelinating MONDO:0009843 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AIP G2P03367 AIP-related pituitary adenoma predisposition MONDO:0007052 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AIPL1 G2P00956 AIPL1-related Leber congenital amaurosis MONDO:0011458 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AK2 G2P00982 AK2-related reticular dysgenesis MONDO:0009973 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AKAP9 G2P03865 AKAP9-related long QT syndrome MONDO:0002442 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AKR1D1 G2P01533 AKR1D1-related bile acid synthesis defect, congenital MONDO:0009339 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AKR1E2 G2P02047 AKR1E2-related congenital cataract MONDO:0005129 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AKT2 G2P03220 AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy MONDO:0009416 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AKT3 G2P01092 AKT3-related hemimegalencephaly MONDO:0011313 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALAD G2P00549 ALAD-related acute hepatic porphyria MONDO:0013000 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALDH18A1 G2P01681 ALDH18A1-related cutis laxa MONDO:0014706 definitive gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALDH18A1 G2P00390 ALDH18A1-related developmental disorder-joint hypermobility-skin laxity with or without metabolic abnormalities definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALDH18A1 G2P02080 ALDH18A1-related spastic paraplegia (biallelic) MONDO:0014702 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALDH18A1 G2P00159 ALDH18A1-related spastic paraplegia (monoallelic) MONDO:0014702 definitive dominant negative 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALDH1A2 G2P03158 ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia MONDO:0859571 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALDH1A3 G2P01075 ALDH1A3-related anophthalmia/microphthalmia MONDO:0016764 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALDH3A2 G2P01224 ALDH3A2-related Sjogren-Larsson syndrome MONDO:0010031 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALDH4A1 G2P01129 ALDH4A1-related hyperprolinemia MONDO:0009401 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALDH5A1 G2P00600 ALDH5A1-related succinate semialdehyde dehydrogenase deficiency MONDO:0010083 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALDH7A1 G2P00979 ALDH7A1-related pyridoxine-dependent epilepsy MONDO:0020741 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALDOA G2P00859 ALDOA-related glycogen storage disease MONDO:0012747 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALG1 G2P00215 ALG1-related congenital disorder of glycosylation MONDO:0012052 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALG11 G2P00230 ALG11-related congenital disorder of glycosylation MONDO:0013349 strong loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALG12 G2P00433 ALG12-related congenital disorder of glycosylation MONDO:0011783 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALG13 G2P01271 ALG13-related congenital disorder of glycosylation MONDO:0010472 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALG2 G2P01120 ALG2-related congenital disorder of glycosylation MONDO:0011933 strong loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALG3 G2P01070 ALG3-related congenital disorder of glycosylation MONDO:0010998 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALG6 G2P00743 ALG6-related congenital disorder of glycosylation MONDO:0011291 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALG8 G2P00205 ALG8-related congenital disorder of glycosylation MONDO:0011969 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALG9 G2P00006 ALG9-related congenital disorder of glycosylation MONDO:0012117 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALKBH8 G2P03222 ALKBH8-related intellectual disability, microcephaly and seizures MONDO:0032789 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALOX12B G2P02716 ALOX12B-related congenital ichthyosis MONDO:0009439 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALOXE3 G2P02717 ALOXE3-related congenital ichthyosis MONDO:0011680 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALPK1 G2P02652 ALPK1-related ROSAH syndrome MONDO:0013999 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALS2 G2P00686 ALS2-related disorder definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALX1 G2P00429 ALX1-related frontonasal dysplasia MONDO:0013271 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALX3 G2P01052 ALX3-related frontonasal dysplasia MONDO:0007636 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALX4 G2P01047 ALX4-related frontonasal dysplasia MONDO:0013268 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ALX4 G2P01174 ALX4-related parietal foramina MONDO:0012309 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AMACR G2P02081 AMACR-related alpha-methylacyl-CoA racemase deficiency MONDO:0013681 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AMFR G2P03504 AMFR-related spastic paraplegia with or without neurodevelopmental delay MONDO:0957274 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AMOTL1 G2P03429 AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature MONDO:0971064 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AMPD2 G2P00455 AMPD2-related pontocerebellar hypoplasia MONDO:0014351 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANAPC1 G2P02663 ANAPC1-related Rothmund-Thomson syndrome MONDO:0016368 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANGPT2 G2P03493 ANGPT2-related non-immune hydrops fetalis limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANK2 G2P03803 ANK2-related Brugada syndrome MONDO:0015263 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANK2 G2P03822 ANK2-related catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANK2 G2P03866 ANK2-related long QT syndrome MONDO:0002442 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANK2 G2P02923 ANK2-related neurodevelopmental disorder MONDO:0700092 limited loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANKH G2P01595 ANKH-related chondrocalcinosis MONDO:0007319 definitive undetermined 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANKH G2P00896 ANKH-related craniometaphyseal dysplasia Jackson type MONDO:0007397 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANKRD1 G2P03826 ANKRD1-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANKRD1 G2P03851 ANKRD1-related hypertrophic cardiomyopathy MONDO:0024573 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANKRD11 G2P00381 ANKRD11-related KBG syndrome MONDO:0007846 definitive undetermined 34 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANKRD17 G2P03124 ANKRD17-related neurodevelopmental disorder MONDO:0859186 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANKRD26 G2P00781 ANKRD26-related thrombocytopenia MONDO:0008555 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANO1 G2P03118 ANO1-related intestinal disease MONDO:0859289 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANO3 G2P03570 ANO3-related dystonia MONDO:0014019 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANO5 G2P01377 ANO5-related gnathodiaphyseal dysplasia MONDO:0008151 moderate gain of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANO5 G2P00871 ANO5-related limb-girdle muscular dystrophy MONDO:0012652 limited loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANTXR1 G2P00350 ANTXR1-related GAPO syndrome MONDO:0009263 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ANTXR2 G2P02726 ANTXR2-related juvenile hyaline fibromatosis MONDO:0016071 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AP1B1 G2P02834 AP1B1-related keratitis-ichthyosis-deafness syndrome (KIDAR) MONDO:0009440 moderate undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AP1G1 G2P03187 AP1G1-related intellectual disability MONDO:0859196 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AP1G1 G2P03188 AP1G1-related intellectual disability and epilepsy MONDO:0859174 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AP1S2 G2P00282 AP1S2-related intellectual developmental disorder MONDO:0010574 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AP1S3 G2P03617 AP1S3-related psoriasis, pustular, susceptibility to MONDO:0014494 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AP2M1 G2P02769 AP2M1-related developmental and epileptic encephalopathy MONDO:0032823 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AP2S1 G2P02867 AP2S1-related developmental disorder MONDO:0700092 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AP3B1 G2P02082 AP3B1-related Hermansky-Pudlak syndrome MONDO:0011997 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AP3B2 G2P01903 AP3B2-related epileptic encephalopathy with optic atrophy MONDO:0015000 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AP4B1 G2P00819 AP4B1-related cerebral palsy spastic quadriplegic MONDO:0013551 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AP4E1 G2P01151 AP4E1-related cerebral palsy spastic quadriplegic MONDO:0013401 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AP4M1 G2P00261 AP4M1-related cerebral palsy spastic quadriplegic MONDO:0013048 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AP4S1 G2P01067 AP4S1-related cerebral palsy spastic quadriplegic MONDO:0013552 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. APC2 G2P02811 APC2-related lissencephaly, subcortical heterotopia, and global developmental delay MONDO:0032866 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. APCDD1 G2P03674 APCDD1-related generalised hereditary hypotrichosis simplex/hypotrichosis MONDO:0011549 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. APOA1 G2P02455 APOA1-related amyloidosis, familial visceral definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. APOA5 G2P02710 APOA5-related hypertriglycidaemia, familial MONDO:0007788 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. APOC2 G2P02709 APOC2-related hyperlipoproteinaemia MONDO:0008810 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. APTX G2P01241 APTX-related ataxia with oculomotor apraxia MONDO:0008842 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AQP5 G2P02736 AQP5-related palmoplantar keratoderma, Bothnian type MONDO:0010849 moderate gain of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARCN1 G2P01783 ARCN1-related microcephalic dwarfism strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARF1 G2P02983 ARF1-related periventricular nodular heterotopia MONDO:0032588 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARF3 G2P03450 ARF3-related neurodevelopmental disorder MONDO:0700092 moderate dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARFGEF1 G2P03145 ARFGEF1-related intellectual disability and epilepsy MONDO:0859263 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARFGEF2 G2P00503 ARFGEF2-related periventricular heterotopia with microcephaly MONDO:0011966 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARHGAP31 G2P00313 ARHGAP31-related Adams-Oliver syndrome MONDO:0024506 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARHGAP35 G2P02873 ARHGAP35-related developmental disorder MONDO:0700092 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARHGAP36 G2P03408 ARHGAP36-related Bazex-Dupre-Christol basal cell carcinoma susceptibility syndrome moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARHGEF18 G2P01917 ARHGEF18-related retinal dystrophy MONDO:0044314 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARHGEF6 G2P00589 ARHGEF6-related intellectual developmental disorder MONDO:0010326 limited loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARHGEF9 G2P02905 ARHGEF9-related developmental disorder MONDO:0010375 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARL13B G2P02083 ARL13B-related Joubert syndrome MONDO:0012855 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARL14EP G2P00194 ARL14EP-related intellectual developmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARL2 G2P02653 ARL2-related microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (MRCS) syndrome MONDO:0033644 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARL2BP G2P01981 ARL2BP-related retinitis pigmentosa with or without situs inversus MONDO:0014186 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARL3 G2P02622 ARL3-related Joubert syndrome MONDO:0032570 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARL3 G2P01982 ARL3-related retinitis pigmentosa MONDO:0032577 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARL6 G2P00421 ARL6-related Bardet-Biedl syndrome MONDO:0010832 definitive loss of function 29 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARL6 G2P02084 ARL6-related retinal dystrophy MONDO:0013312 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARNT2 G2P02958 ARNT2-related hypopituitarism, post-natal microcephaly, visual and renal anomalies MONDO:0014404 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARPC4 G2P03238 ARPC4-related microcephaly and developmental delay MONDO:0859324 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARSA G2P00042 ARSA-related arylsulfatase A deficiency MONDO:0009591 definitive loss of function 23 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARSB G2P00868 ARSB-related mucopolysaccharidosis MONDO:0009661 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARSG G2P02546 ARSG-related atypical Usher syndrome MONDO:0029141 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARSL G2P01411 ARSL-related chondrodysplasia punctata MONDO:0010555 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ARX G2P00062 ARX-related neurodevelopmental spectrum including lissencephaly with genital anomalies and epilepsy to non-syndromic intellectual disability MONDO:0100148 definitive loss of function 16 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ASAH1 G2P00287 ASAH1-related Farber lipogranulomatosis MONDO:0009218 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ASAH1 G2P01095 ASAH1-related spinal muscular atrophy with progressive myoclonic epilepsy MONDO:0008045 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ASCC1 G2P01722 ASCC1-related prenatal spinal muscular atrophy and congenital bone fractures MONDO:0014807 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ASCC3 G2P00133 ASCC3-related intellectual developmental disorder MONDO:0958204 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ASCL1 G2P00387 ASCL1-related intellectual developmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ASH1L G2P01097 ASH1L-related intellectual disability MONDO:0030918 strong undetermined 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ASNS G2P03042 ASNS-related asparagine synthetase deficiency definitive loss of function 17 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ASPA G2P00790 ASPA-related Canavan disease MONDO:0010079 definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ASPH G2P00401 ASPH-related dysmorphism, lens dislocation, anterior segment abnormalities, and filtering blebs strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ASPM G2P00459 ASPM-related pirmary microcephaly MONDO:0012106 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ASPRV1 G2P03658 ASPRV1-related ichthyosis, lamellar MONDO:0007812 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ASRGL1 G2P02045 ASRGL1-related retinal dystrophy strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ASXL2 G2P01889 ASXL2-related developmental delay, macrocephaly, and dysmorphic features MONDO:0014963 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ASXL3 G2P00924 ASXL3-related Bainbridge-Ropers syndrome MONDO:0014205 strong loss of function 28 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATAD3A G2P01760 ATAD3A-related disorder with global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy MONDO:0014958 definitive dominant negative 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATAD3A G2P01879 ATAD3A-related disorder with global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy MONDO:0014958 strong loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATF6 G2P02050 ATF6-related achromatopsia MONDO:0014677 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATG4D G2P03428 ATG4D-related neurodevelopmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATG7 G2P03185 ATG7-related intellectual disability and ataxia MONDO:0030323 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATIC G2P01150 ATIC-related AICA-ribosiduria MONDO:0012099 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATL1 G2P03412 ATL1-related hereditary spastic paraplegia definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATN1 G2P02647 ATN1-related congenital hypotonia, epilepsy, developmental delay, digit abnormalities MONDO:0032781 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATOH7 G2P00770 ATOH7-related persistent hyperplastic primary vitreous MONDO:0009097 strong loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP13A2 G2P00339 ATP13A2-related Parkinson disease MONDO:0011706 moderate loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP1A1 G2P02626 ATP1A1-related renal hypomagnesemia refractory seizures and intellectual disability MONDO:0020788 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP1A3 G2P01055 ATP1A3-related alternating hemiplegia of childhood MONDO:0013900 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP2A2 G2P02451 ATP2A2-related acrokeratosis verruciformis MONDO:0007048 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP2B1 G2P03321 ATP2B1-related neurodevelopmental disorder MONDO:0030891 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP2C1 G2P02500 ATP2C1-related Hailey-Hailey disease MONDO:0008218 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP5F1A G2P03218 ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia MONDO:0957254 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP5F1A G2P03219 ATP5F1A-related mitochondrial encephalopathy MONDO:0014091 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP5F1D G2P02597 ATP5F1D-related metabolic disorder MONDO:0020858 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP6AP2 G2P01458 ATP6AP2-related intellectual developmental disorder with epilepsy MONDO:0010319 limited undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP6V0A1 G2P02891 ATP6V0A1-related developmental disorder MONDO:0031021 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP6V0A2 G2P02524 ATP6V0A2-related wrinkly skin syndrome MONDO:0010208 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP6V0C G2P03060 ATP6V0C-related developmental disorder MONDO:0958196 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP6V1A G2P02592 ATP6V1A-related cutis laxa MONDO:0027451 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP6V1A G2P02984 ATP6V1A-related epileptic encephalopathy, infantile or early childhood MONDO:0020632 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP6V1B1 G2P01043 ATP6V1B1-related distal renal tubular acidosis with deafness MONDO:0009968 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP6V1B2 G2P01489 ATP6V1B2-related Zimmermann-Laband syndrome MONDO:0014646 strong dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP6V1E1 G2P02591 ATP6V1E1-related cutis laxa MONDO:0027462 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP8A2 G2P01367 ATP8A2-related cerebellar ataxia, intellectual developmental disorder, and dysequilibrium syndrome MONDO:0014104 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP8B1 G2P01014 ATP8B1-related intrahepatic cholestasis MONDO:0008892 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATP9A G2P03330 ATP9A-related neurodevelopmental disorder MONDO:0859377 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATRIP G2P03478 ATRIP-related breast cancer, susceptibility to MONDO:0007254 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATXN7 G2P02049 ATXN7-related spinocerebellar ataxia MONDO:0016163 definitive dominant negative 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATXN7L3 G2P03701 ATXN7L3-related developmental delay, hypotonia and facial dysmorphism moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AUH G2P00732 AUH-related 3-methylglutaconic aciduria MONDO:0009610 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. AUTS2 G2P00216 AUTS2-related syndromic intellectual disability MONDO:0014361 definitive loss of function 14 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. B3GALT6 G2P03610 B3GALT6-related Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0014139 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. B3GALT6 G2P00199 B3GALT6-related spondyloepimetaphyseal dysplasia with joint laxity MONDO:0010075 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. B3GAT3 G2P02786 B3GAT3-related multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects MONDO:0009511 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. B3GLCT G2P01954 B3GLCT-related Peters-plus syndrome MONDO:0009856 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. B4GALT1 G2P02962 B4GALT1-related congenital disorder of glycosylation MONDO:0011772 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. B4GALT7 G2P00611 B4GALT7-related spondylo-dysplastic Ehlers Danlos syndrome MONDO:0020682 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BAG3 G2P03268 BAG3-related dilated cardiomyopathy MONDO:0013479 definitive undetermined 12 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BAG3 G2P03448 BAG3-related myofibrillar myopathy MONDO:0018943 definitive undetermined 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BANF1 G2P00506 BANF1-related Nestor-Guillermo progeria syndrome MONDO:0013523 moderate loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BARD1 G2P03357 BARD1-related breast cancer, susceptibility to MONDO:0007254 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BAZ2B G2P03424 BAZ2B-related neurodevelopmental disorder MONDO:0700092 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BBIP1 G2P02051 BBIP1-related Bardet-Biedl syndrome MONDO:0014446 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BBS10 G2P00100 BBS10-related Bardet-Biedl syndrome MONDO:0014438 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BBS12 G2P01443 BBS12-related Bardet-Biedl syndrome MONDO:0014440 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BBS4 G2P00145 BBS4-related Bardet-Biedl syndrome MONDO:0014433 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BBS5 G2P00314 BBS5-related Bardet-Biedl syndrome MONDO:0014434 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BBS7 G2P01383 BBS7-related Bardet-Biedl syndrome MONDO:0014435 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BBS9 G2P00009 BBS9-related Bardet-Biedl syndrome MONDO:0014437 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BCAP31 G2P00378 BCAP31-related deafness, dystonia, and central hypomyelination with disorganization of the Golgi apparatus definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BCAS3 G2P03153 BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy MONDO:0859208 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BCL11B G2P02854 BCL11B-related neurodevelopmental disorder MONDO:0060763 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BCOR G2P00211 BCOR-related syndromic microphthalmia MONDO:0010261 definitive loss of function 12 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BCORL1 G2P02922 BCORL1-related Shukla-Vernon syndrome MONDO:0026727 limited undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BCS1L G2P03671 BCS1L-related Bjornstad syndrome MONDO:0009872 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BCS1L G2P00955 BCS1L-related Gracile syndrome MONDO:0011308 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BEST1 G2P02041 BEST1-related bestrophinopathy MONDO:0012733 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BEST1 G2P02042 BEST1-related macular dystrophy, vitelliform MONDO:0007931 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BEST1 G2P02043 BEST1-related microcornea, rod-cone dystrophy, cataract, and posterior staphyloma MONDO:0008662 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BEST1 G2P02044 BEST1-related retinitis pigmentosa MONDO:0019200 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BFSP1 G2P01967 BFSP1-related cataract, multiple types MONDO:0012665 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BFSP1 G2P03091 BFSP1-related cataract, multiple types MONDO:0012665 strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BFSP2 G2P00555 BFSP2-related cataract MONDO:0012701 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BFSP2 G2P03090 BFSP2-related cataract MONDO:0012701 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BGN G2P01790 BGN-related severe syndromic form of thoracic aortic aneurysm and dissection MONDO:0010515 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BGN G2P01744 BGN-related spondyloepimetaphyseal dysplasia MONDO:0010248 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BHLHA9 G2P00920 BHLHA9-related mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type MONDO:0012271 definitive dominant negative 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BHLHA9 G2P02025 BHLHA9-related split hand and foot malformation MONDO:0016576 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BICD2 G2P00609 BICD2-related proximal spinal muscular atrophy with brain anomalies definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BIN1 G2P01416 BIN1-related centronuclear myopathy MONDO:0009709 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BLM G2P01471 BLM-related Bloom syndrome MONDO:0008876 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BLOC1S3 G2P02040 BLOC1S3-related Hermansky-Pudlak syndrome MONDO:0013560 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BLOC1S6 G2P00543 BLOC1S6-related Hermansky-Pudlak syndrome MONDO:0013606 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BLTP1 G2P01979 BLTP1-related brain atrophy, dandy walker and contractures MONDO:0060631 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BMP2 G2P01980 BMP2-related short stature, palatal anomalies, congenital heart disease, and skeletal malformations MONDO:0100297 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BMP4 G2P00430 BMP4-related microphthalmia with brain and digit anomalies MONDO:0011936 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BMPER G2P00581 BMPER-related diaphanospondylodysostosis MONDO:0011946 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BMPR1B G2P01425 BMPR1B-related brachydactyly MONDO:0007216 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BMS1 G2P03608 BMS1-related aplasia cutis congenita, non-syndromic MONDO:0007145 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BNC2 G2P02778 BNC2-related congenital lower urinary tract obstruction MONDO:0032833 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BOLA3 G2P00689 BOLA3-related multiple mitochondrial dysfunctions syndrome MONDO:0013675 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BORCS8 G2P03556 BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease MONDO:0975837 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BPNT2 G2P00652 BPNT2-related chondrodysplasia with joint dislocations, Grapp type MONDO:0013561 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BPTF G2P02369 BPTF-related developmental and speech delay, postnatal microcephaly, and dysmorphic features MONDO:0060596 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BRAT1 G2P00156 BRAT1-related lethal neonatal rigidity and seizure syndrome strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BRD4 G2P02656 BRD4-related Cornelia de Lange-like syndrome MONDO:0957921 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BRF1 G2P03104 BRF1-related cerebellofaciodental syndrome MONDO:0014529 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BRPF1 G2P01858 BRPF1-related syndromic intellectual disability with ptosis MONDO:0015022 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BRSK2 G2P02781 BRSK2-related neurodevelopmental disorder MONDO:0700092 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BRWD3 G2P01286 BRWD3-related intellectual developmental disorder MONDO:0010393 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BSCL2 G2P02671 BSCL2-related lipodystrophy, congenital generalised MONDO:0010020 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BSN G2P03460 BSN-related epilepsy MONDO:0005027 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BSN G2P03461 BSN-related epilepsy MONDO:0005027 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BSND G2P01544 BSND-related Bartter syndrome, type 4a MONDO:0011242 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BTD G2P01368 BTD-related biotinidase deficiency MONDO:0009665 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BUB1 G2P03378 BUB1-related microcephaly and developmental disorder MONDO:0859342 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. BUB1B G2P00148 BUB1B-related mosaic variegated aneuploidy syndrome MONDO:0009759 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. C12orf57 G2P00263 C12orf57-related Temtamy syndrome; coloboma, hypoplastic corpus callosum, and intellectual disability MONDO:0009033 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. C19orf12 G2P02038 C19orf12-related neurodegeneration with brain iron accumulation MONDO:0013674 strong loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. C1QBP G2P02371 C1QBP-related severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies MONDO:0054677 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. C1QTNF5 G2P02037 C1QTNF5-related retinal degeneration, late-onset MONDO:0011579 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. C2CD3 G2P00407 C2CD3-related orofaciodigital syndrome MONDO:0014413 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. C3orf52 G2P03669 C3orf52-related localised hypotrichosis MONDO:0859341 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CA2 G2P00616 CA2-related osteopetrosis MONDO:0009818 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CA4 G2P01922 CA4-related retinitis pigmentosa MONDO:0019200 limited undetermined 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CA5A G2P01137 CA5A-related hyperammonemia due to carbonic anhydrase VA deficiency MONDO:0014332 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CA8 G2P00838 CA8-related cerebellar ataxia, intellectual developmental disorder, and dysequilibrium syndrome MONDO:0013188 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CABP2 G2P01393 CABP2-related deafness MONDO:0013963 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CABP4 G2P02035 CABP4-related cone-rod synaptic disorder, congenital nonprogressive MONDO:0012490 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CACNA1B G2P02775 CACNA1B-related neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements MONDO:0032784 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CACNA1D G2P00130 CACNA1D-related primary aldosteronism, seizures, and neurologic abnormalities MONDO:0014200 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CACNA1D G2P00109 CACNA1D-related sinoatrial node dysfunction and deafness MONDO:0013960 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CACNA1E G2P02574 CACNA1E-related epileptic encephalopathy with contractures, macrocephaly, and dyskinesia MONDO:0032657 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CACNA1F G2P02034 CACNA1F-related Aland Island eye disease MONDO:0010371 definitive loss of function 12 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CACNA1G G2P02906 CACNA1G-related developmental disorder with hypotonia, epilepsy, and cerebral/cerebellar atrophy strong loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CACNA1G G2P01268 CACNA1G-related intellectual developmental disorder MONDO:0700092 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CACNA1H G2P01454 CACNA1H-related epilepsy, childhood absence, susceptibility to MONDO:0012763 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CACNA2D1 G2P03805 CACNA2D1-related Brugada syndrome MONDO:0015263 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CACNA2D1 G2P03462 CACNA2D1-related neurodevelopmental disorder MONDO:0859327 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CACNA2D1 G2P03875 CACNA2D1-related short QT syndrome MONDO:0000453 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CACNA2D4 G2P02033 CACNA2D4-related retinal cone dystrophy MONDO:0012507 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CACNB2 G2P03806 CACNB2-related Brugada syndrome MONDO:0015263 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CACNB2 G2P03881 CACNB2-related hypertrophic cardiomyopathy MONDO:0024573 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CACNB2 G2P03876 CACNB2-related short QT syndrome MONDO:0000453 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CACNB4 G2P00721 CACNB4-related juvenile myoclonic epilepsy MONDO:0011892 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CAD G2P02414 CAD-related uridine-responsive epileptic encephalopathy MONDO:0014647 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CALM1 G2P03256 CALM1-related catecholaminergic polymorphic ventricular tachycardia MONDO:0013966 moderate undetermined 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CALM1 G2P03301 CALM1-related long QT syndrome MONDO:0014548 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CALM2 G2P03257 CALM2-related catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 moderate undetermined 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CALM2 G2P03302 CALM2-related long QT syndrome MONDO:0014550 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CALM3 G2P03258 CALM3-related catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 moderate undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CALM3 G2P03303 CALM3-related long QT syndrome MONDO:0019171 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CALR3 G2P03852 CALR3-related hypertrophic cardiomyopathy MONDO:0024573 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CAMK2A G2P02381 CAMK2A-related intellectual disability MONDO:0030919 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CAMK2B G2P02382 CAMK2B-related intellectual disability MONDO:0030920 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CAMK2D G2P03540 CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy MONDO:1040008 moderate gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CAMK2G G2P02985 CAMK2G-related intellectual developmental disorder MONDO:0032795 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CAMSAP1 G2P03419 CAMSAP1-related neuronal migration disorder MONDO:0957217 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CAMTA1 G2P00022 CAMTA1-related cerebellar dysfunction with variable cognitive and behavioural abnormalities MONDO:0013886 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CANT1 G2P02360 CANT1-related Desbuquois dysplasia MONDO:0009629 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CAPN10 G2P00967 CAPN10-related intellectual developmental disorder MONDO:0700092 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CAPN15 G2P03777 CAPN15-related oculogastrointestinal neurodevelopmental syndrome MONDO:0036189 strong loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CAPN5 G2P02032 CAPN5-related vitreoretinopathy, neovascular inflammatory definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CAPRIN1 G2P01316 CAPRIN1-related neurodevelopmental disorder MONDO:0968945 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CARMIL2 G2P03632 CARMIL2-related immunodeficiency MONDO:0029134 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CARS1 G2P02645 CARS1-related microcephaly, developmental delay, and brittle hair and nails MONDO:0030047 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CARS2 G2P01891 CARS2-related epileptic encephalopathy with complex movement disorder and regression MONDO:0014728 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CASK G2P00495 CASK-related intellectual developmental disorder definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CASK G2P01604 CASK-related intellectual developmental disorder, with or without nystagmus MONDO:0010318 definitive undetermined 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CASP10 G2P02458 CASP10-related autoimmune lymphoproliferative syndrome MONDO:0011383 strong dominant negative 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CASP2 G2P01083 CASP2-related developmental disorder with lissencephaly MONDO:0957999 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CASQ2 G2P03262 CASQ2-related catecholaminergic polymorphic ventricular tachycardia MONDO:0012762 moderate undetermined 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CASQ2 G2P03263 CASQ2-related catecholaminergic polymorphic ventricular tachycardia MONDO:0012762 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CASQ2 G2P03883 CASQ2-related hypertrophic cardiomyopathy MONDO:0024573 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CAST G2P03621 CAST-related PLACK syndrome MONDO:0014574 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CAV3 G2P03867 CAV3-related long QT syndrome MONDO:0002442 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CBFB G2P03513 CBFB-related cleidocranial dysplasia MONDO:0859307 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CBL G2P00036 CBL-related Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia MONDO:0013308 definitive gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CBX1 G2P03495 CBX1-related neurodevelopmental disorder MONDO:0700092 moderate dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CC2D1A G2P01523 CC2D1A-related intellectual developmental disorder MONDO:0012037 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCBE1 G2P00667 CCBE1-related Hennekam lymphangiectasia-lymphedema syndrome MONDO:0009337 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCDC22 G2P01275 CCDC22-related syndromic intellectual disability MONDO:0010499 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCDC32 G2P02955 CCDC32-related neurodevelopmental syndrome MONDO:0030873 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCDC47 G2P02625 CCDC47-related woolly hair, liver dysfunction, dysmorphic features, and global developmental delay MONDO:0032645 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCDC78 G2P00475 CCDC78-related congenital myopathy MONDO:0013890 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCDC8 G2P01387 CCDC8-related 3-M syndrome MONDO:0013627 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCDC88A G2P01757 CCDC88A-related PEHO-like syndrome with neuronal migration disorder, seizures and microcephaly MONDO:0020495 moderate loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCDC88C G2P01696 CCDC88C-related hydrocephalus, nonsyndromic MONDO:0009360 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCDC91 G2P03680 CCDC91-related palmoplantar keratoderma, punctate type MONDO:0017675 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCM2 G2P02463 CCM2-related cerebral cavernous malformation MONDO:0011304 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCNA2 G2P01019 CCNA2-related intellectual developmental disorder MONDO:0700092 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCND2 G2P01123 CCND2-related megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome MONDO:0014408 definitive gain of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCNK G2P02619 CCNK-related syndromic neurodevelopmental disorder with distinctive facial dysmorphism MONDO:0029143 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCNQ G2P00717 CCNQ-related STAR syndrome MONDO:0010408 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCT2 G2P02031 CCT2-related Leber congenital amaurosis MONDO:0018998 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCT3 G2P03585 CCT3-related neurodevelopmental disorder with hypomyelination of white matter MONDO:0976125 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCT4 G2P03587 CCT4-related neurodevelopmental disorder with brain abnormalities MONDO:0100038 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCT5 G2P03588 CCT5-related neurodevelopmental disorder with brain abnormalities limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCT6A G2P03586 CCT6A-related neurodevelopmental disorder with or without brain abnormalities MONDO:0100038 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCT7 G2P03589 CCT7-related neurodevelopmental disorder with brain abnormalities MONDO:0100038 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CCT8 G2P03590 CCT8-related neurodevelopmental disorder with brain abnormalities MONDO:0100038 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CD151 G2P00671 CD151-related nephropathy with pretibial epidermolysis bullosa and deafness MONDO:0012190 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CD96 G2P00753 CD96-related C syndrome MONDO:0008893 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDC14A G2P01747 CDC14A-related deafness strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDC40 G2P03070 CDC40-related neurodegenerative pontocerebellar hypoplasia with microcephaly MONDO:0030259 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDC42 G2P02933 CDC42-related neurodevelopmental disorder definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDC42BPB G2P02932 CDC42BPB-related neurodevelopmental disorder MONDO:0859239 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDC45 G2P01751 CDC45-related Meier-Gorlin syndrome and craniosynostosis MONDO:0014894 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDC6 G2P00076 CDC6-related Meier-Gorlin syndrome MONDO:0013432 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDC73 G2P01833 CDC73-related hyperparathyroidism-jaw tumour syndrome MONDO:0007768 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDH11 G2P03235 CDH11-related brachioskeletogenital syndrome MONDO:0008885 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDH15 G2P00627 CDH15-related intellectual developmental disorder MONDO:0012946 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDH2 G2P03791 CDH2-related arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDH2 G2P02812 CDH2-related syndromic neurodevelopmental disorder with corpus callosum, axon, cardiac, ocular, and genital defects MONDO:0030065 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDH23 G2P00279 CDH23-related deafness MONDO:0011067 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDH23 G2P01279 CDH23-related Usher syndrome MONDO:0010984 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDH3 G2P00576 CDH3-related ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) MONDO:0009155 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDH3 G2P03668 CDH3-related hypotrichosis with juvenile macular dystrophy MONDO:0011107 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDHR1 G2P02030 CDHR1-related retinitis pigmentosa MONDO:0013348 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDK10 G2P02365 CDK10-related severe growth retardation, spine malformations, and developmental delays MONDO:0044324 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDK13 G2P01767 CDK13-related syndromic intellectual disability with or without congenital heart disease MONDO:0044302 definitive undetermined 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDK16 G2P02013 CDK16-related intellectual disability MONDO:0001071 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDK19 G2P02961 CDK19-related intellectual disability and epileptic encephalopathy MONDO:0030059 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDK4 G2P01799 CDK4-related melanoma, cutaneous malignant MONDO:0012183 definitive gain of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDK4 G2P02665 CDK4-related melanoma-pancreatic cancer syndrome definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDK5RAP2 G2P00376 CDK5RAP2-related primary microcephaly MONDO:0011488 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDK8 G2P02783 CDK8-related syndromic intellectual disability MONDO:0032897 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDKN1B G2P03340 CDKN1B-related multiple endocrine neoplasia MONDO:0017169 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDKN1C G2P01419 CDKN1C-related Beckwith-Wiedemann syndrome MONDO:0007534 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDKN1C G2P02419 CDKN1C-related IMAGE Syndrome MONDO:0013873 definitive gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDO1 G2P03789 CDO1-related neurodevelopmental disorder limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDON G2P00943 CDON-related holoprosencephaly MONDO:0013642 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDSN G2P02714 CDSN-related hypotrichosis simplex of the scalp/hypotrichosis type MONDO:0007805 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CDT1 G2P00354 CDT1-related Meier-Gorlin syndrome MONDO:0013431 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CEBPA G2P01801 CEBPA-related leukemia, acute myeloid MONDO:0018874 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CELF2 G2P03099 CELF2-related neurodevelopmental disorder MONDO:0030453 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CELF4 G2P03916 CELF4-related neurodevelopmental disorder with overgrowth moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CELSR1 G2P03683 CELSR1-related fetal hydrops MONDO:0015193 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CELSR3 G2P03726 CELSR3-related neurodevelopmental disorder with or without urinary tract abnormalities MONDO:0100038 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CENPF G2P02560 CENPF-related Stromme syndrome MONDO:0009477 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CEP104 G2P01687 CEP104-related Joubert syndrome MONDO:0014770 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CEP135 G2P00714 CEP135-related primary microcephaly and disturbed centrosomal function MONDO:0013849 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CEP152 G2P00518 CEP152-related developmental disorder MONDO:0013443 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CEP164 G2P02029 CEP164-related nephronophthisis MONDO:0013917 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CEP250 G2P02028 CEP250-related retinal dystrophy MONDO:0020780 strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CEP57 G2P00991 CEP57-related mosaic variegated aneuploidy syndrome MONDO:0013582 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CEP63 G2P00608 CEP63-related Seckel syndrome MONDO:0013871 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CEP78 G2P02086 CEP78-related cone-rod dystrophy and hearing loss MONDO:0014980 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CEP83 G2P01362 CEP83-related infantile nephronophthisis and intellectual disability MONDO:0014374 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CEP85L G2P03180 CEP85L-related posterior-predominant lissencephaly MONDO:0030031 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CERKL G2P02027 CERKL-related retinitis pigmentosa MONDO:0012024 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CERS3 G2P03612 CERS3-related ichthyosis, congenital MONDO:0014010 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CERT1 G2P01166 CERT1-related intellectual disability MONDO:0014599 definitive gain of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CFAP298 G2P01308 CFAP298-related primary ciliary dyskinesia MONDO:0014211 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CFAP300 G2P02602 CFAP300-related primary ciliary dyskinesia MONDO:0054843 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CFAP410 G2P02020 CFAP410-related retinal dystrophy with or without axial spondylometaphyseal dysplasia MONDO:0011211 definitive loss of function 13 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CFAP418 G2P00605 CFAP418-related cone-rod dystrophy MONDO:0013786 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CFC1 G2P00324 CFC1-related conotruncal heart malformations MONDO:0016581 strong loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHAMP1 G2P00048 CHAMP1-related neurodevelopmental disorder definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHD1 G2P03021 CHD1-related neurodevelopment disorder MONDO:0060568 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHD3 G2P02440 CHD3-related macrocephaly and impaired speech and language MONDO:0032600 strong undetermined 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHD5 G2P03126 CHD5-related neurodevelopmental disorder with intellectual disability, speech delay and epilepsy MONDO:0859249 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHD7 G2P01399 CHD7-related CHARGE syndrome MONDO:0008965 definitive loss of function 44 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHD8 G2P01363 CHD8-related autism MONDO:0005260 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHEK2 G2P01802 CHEK2-related cancer definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHEK2 G2P03527 CHEK2-related cancer predisposition definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHKA G2P03334 CHKA-related neurodevelopmental disorder MONDO:0859282 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHM G2P01421 CHM-related choroideremia MONDO:0010557 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHMP1A G2P00824 CHMP1A-related pontocerebellar hypoplasia and microcephaly MONDO:0013990 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHMP4B G2P02026 CHMP4B-related cataract, multiple types MONDO:0011547 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHN1 G2P01942 CHN1-related Duane retraction syndrome MONDO:0011444 strong gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHRDL1 G2P00200 CHRDL1-related megalocornea MONDO:0010649 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHRM1 G2P03213 CHRM1-related intellectual disability MONDO:0001071 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHRNA2 G2P00766 CHRNA2-related nocturnal frontal lobe epilepsy MONDO:0012474 strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHRNA3 G2P02912 CHRNA3-related congenital anomalies of the kidney and urinary tract strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHRNA4 G2P01035 CHRNA4-related nocturnal frontal lobe epilepsy MONDO:0010899 definitive gain of function 18 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHRNB1 G2P03107 CHRNB1-related congenital myaesthenia MONDO:0014582 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHRNB1 G2P03108 CHRNB1-related congenital myaesthenia MONDO:0014582 definitive gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHRNB2 G2P00468 CHRNB2-related nocturnal frontal lobe epilepsy MONDO:0011545 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHRNG G2P00104 CHRNG-related multiple pterygium syndrome, Escobar variant MONDO:0009926 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHST14 G2P00940 CHST14-related Ehlers-Danlos syndrome, musculocontractural type MONDO:0020681 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHST3 G2P00023 CHST3-related spondyloepiphyseal dysplasia with congenital joint dislocations MONDO:0007738 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHST6 G2P01934 CHST6-related macular corneal dystrophy MONDO:0009020 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHST8 G2P03603 CHST8-related peeling skin syndrome MONDO:0014555 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHSY1 G2P00105 CHSY1-related Temtamy preaxial brachydactyly syndrome MONDO:0011533 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CHUK G2P00618 CHUK-related Cocoon syndrome MONDO:0013334 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CIAO1 G2P03768 CIAO1-related neuromuscular disorder with intellectual disability MONDO:0975806 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CIB1 G2P03644 CIB1-related epidermodysplasia verruciformis MONDO:0032644 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CIB2 G2P00885 CIB2-related nonsyndromic deafness MONDO:0012273 strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CIB2 G2P00404 CIB2-related Usher syndrome MONDO:0013935 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CIT G2P01871 CIT-related primary microcephaly MONDO:0014908 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CKAP2L G2P01054 CKAP2L-related syndactyly, type I, with microcephaly and intellectual developmental disorder (Filippi syndrome) MONDO:0010092 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLCC1 G2P02538 CLCC1-related retinitis pigmentosa MONDO:0019200 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLCN2 G2P02087 CLCN2-related leukoencephalopathy with ataxia definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLCN3 G2P03191 CLCN3-related neurodevelopmental disorder with hypotonia and brain abnormalities MONDO:0859187 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLCN3 G2P03190 CLCN3-related neurodevelopmental disorder with seizures and brain abnormalities MONDO:0859188 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLCN4 G2P01457 CLCN4-related infantile epileptic encephalopathy and/or intellectual disability strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLCN6 G2P03073 CLCN6-related developmental disorder strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLCN7 G2P03654 CLCN7-related hypopigmentation, organomegaly, and delayed myelination and development MONDO:0032805 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLCN7 G2P00520 CLCN7-related osteopetrosis MONDO:0012676 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLCNKA G2P00905 CLCNKA-related Bartter syndrome, type 4b MONDO:0000909 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLCNKB G2P00554 CLCNKB-related Bartter syndrome, type 4b MONDO:0000909 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLDN1 G2P02725 CLDN1-related ichthyosis, leucocyte vacuoles, alopecia and sclerosing cholangitis MONDO:0011874 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLDN14 G2P01415 CLDN14-related deafness MONDO:0013537 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLDN19 G2P00685 CLDN19-related hypomagnesemia with ocular involvement MONDO:0009548 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLDN5 G2P03328 CLDN5-related neurodevelopmental disorder MONDO:0700092 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLDND1 G2P03773 CLDND1-related leukodystrophy limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLIC2 G2P01667 CLIC2-related intellectual developmental disorder MONDO:0010473 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLMP G2P00933 CLMP-related congenital short bowel syndrome MONDO:0020718 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLN3 G2P00043 CLN3-related neuronal ceroid lipofuscinosis MONDO:0008767 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLN3 G2P02088 CLN3-related retinal dystrophy MONDO:0019118 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLN5 G2P02089 CLN5-related neuronal ceroid lipofuscinosis MONDO:0009745 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLN6 G2P00682 CLN6-related neuronal ceroid lipofuscinosis MONDO:0011144 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLN6 G2P01639 CLN6-related neuronal ceroid lipofuscinosis, Kufs Type, adult onset MONDO:0008768 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLN8 G2P00052 CLN8-related neuronal ceroid lipofuscinosis MONDO:0010830 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLP1 G2P00820 CLP1-related pontocerebellar hypoplasia MONDO:0014349 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLPB G2P01233 CLPB-related 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia MONDO:0014561 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLPP G2P00456 CLPP-related Perrault syndrome MONDO:0013588 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLRN1 G2P02054 CLRN1-related retinitis pigmentosa MONDO:0013610 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLRN1 G2P02053 CLRN1-related Usher syndrome MONDO:0010170 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CLTC G2P02373 CLTC-related epilepsy and intellectual disability MONDO:0030922 strong loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNBP G2P02057 CNBP-related myotonic dystrophy MONDO:0016107 definitive dominant negative 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNGA1 G2P02058 CNGA1-related retinitis pigmentosa MONDO:0013405 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNGA3 G2P02059 CNGA3-related achromatopsia MONDO:0009003 definitive gain of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNGA3 G2P02060 CNGA3-related Leber congenital amaurosis limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNGB1 G2P02061 CNGB1-related retinitis pigmentosa MONDO:0013413 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNGB3 G2P02062 CNGB3-related achromatopsia MONDO:0009875 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNGB3 G2P03085 CNGB3-related achromatopsia MONDO:0009875 definitive gain of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNGB3 G2P02063 CNGB3-related macular degeneration, juvenile limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNKSR1 G2P00202 CNKSR1-related intellectual developmental disorder MONDO:0700092 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNKSR2 G2P01148 CNKSR2-related intellectual disability with epilepsy MONDO:0030909 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNNM2 G2P03023 CNNM2-related neurodevelopmental disorder with hypomagnesemia MONDO:0020787 strong undetermined 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNNM2 G2P03024 CNNM2-related neurodevelopmental disorder with hypomagnesemia MONDO:0020787 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNNM4 G2P02064 CNNM4-related Jalili syndrome MONDO:0009007 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNOT1 G2P02776 CNOT1-related holoprosencephaly with or without pancreatic agenesis MONDO:0032787 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNOT1 G2P03009 CNOT1-related neurodevelopmental disorder MONDO:0033618 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNOT2 G2P03500 CNOT2-related neurodevelopmental disorder with hypotonia MONDO:0032832 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNOT3 G2P01701 CNOT3-related neurodevelopmental disorder MONDO:0032864 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNOT9 G2P03501 CNOT9-related developmental disorder with seizures moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNPY3 G2P02595 CNPY3-related early onset epileptic encephalopathy MONDO:0033369 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNTNAP1 G2P01693 CNTNAP1-related lethal congenital contracture syndrome MONDO:0014569 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CNTNAP2 G2P00173 CNTNAP2-related cortical dysplasia-focal epilepsy syndrome MONDO:0012400 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COA5 G2P01029 COA5-related mitochondrial complex IV deficiency MONDO:0014667 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COA8 G2P01304 COA8-related mitochondrial complex IV deficiency MONDO:0033652 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COASY G2P00247 COASY-related neurodegeneration with brain iron accumulation MONDO:0014290 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COG1 G2P00675 COG1-related congenital disorder of glycosylation MONDO:0012637 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COG4 G2P01188 COG4-related congenital disorder of glycosylation MONDO:0013281 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COG4 G2P02623 COG4-related Saul Wilson syndrome MONDO:0019407 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COG5 G2P00372 COG5-related congenital disorder of glycosylation MONDO:0013325 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COG7 G2P00032 COG7-related congenital disorder of glycosylation MONDO:0012118 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COG8 G2P01616 COG8-related congenital disorder of glycosylation MONDO:0012635 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL11A1 G2P00708 COL11A1-related fibrochondrogenesis MONDO:0009226 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL11A1 G2P02065 COL11A1-related Marshall syndrome MONDO:0007949 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL11A1 G2P01519 COL11A1-related Stickler syndrome MONDO:0011493 definitive dominant negative 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL11A2 G2P00926 COL11A2-related deafness (biallelic) MONDO:0012333 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL11A2 G2P00879 COL11A2-related deafness (monoallelic) MONDO:0012333 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL11A2 G2P00117 COL11A2-related otospondylomegaepiphyseal dysplasia MONDO:0044206 definitive dominant negative 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL11A2 G2P01074 COL11A2-related Stickler syndrome MONDO:0008490 definitive dominant negative 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL13A1 G2P01659 COL13A1-related congenital myasthenic syndrome MONDO:0014745 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL18A1 G2P01187 COL18A1-related Knobloch syndrome MONDO:0800167 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL1A2 G2P02483 COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type MONDO:0009159 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL1A2 G2P02703 COL1A2-related osteogenesis imperfecta MONDO:0019019 definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL1A2 G2P02704 COL1A2-related osteogenesis imperfecta congenita type II MONDO:0008147 definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL25A1 G2P01030 COL25A1-related fibrosis of extraocular muscles, congenital MONDO:0014538 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL27A1 G2P02921 COL27A1-related Steel syndrome MONDO:0014061 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL4A1 G2P00601 COL4A1-related porencephaly and brain small vessel disease with or without ocular anomalies MONDO:0008289 definitive dominant negative 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL4A2 G2P01292 COL4A2-related porencephaly MONDO:0013773 moderate dominant negative 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL4A3 G2P00950 COL4A3-related Alport syndrome (biallelic) MONDO:0957811 definitive loss of function 17 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL4A3 G2P01574 COL4A3-related Alport syndrome (monoallelic) MONDO:0957811 definitive loss of function 16 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL4A4 G2P01506 COL4A4-related Alport syndrome MONDO:0008762 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL4A5 G2P02434 COL4A5-related Alport syndrome MONDO:0018965 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL6A1 G2P01750 COL6A1-related myopathy MONDO:0024530 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL6A2 G2P03143 COL6A2-related muscular dystrophy MONDO:0958235 definitive loss of function 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL6A2 G2P03144 COL6A2-related muscular dystrophy MONDO:0958235 definitive dominant negative 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL6A3 G2P01670 COL6A3-related Ullrich congenital muscular dystrophy MONDO:0958236 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL8A2 G2P02090 COL8A2-related corneal dystrophy, Fuchs endothelial MONDO:0007637 strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL9A1 G2P00252 COL9A1-related multiple epiphyseal dysplasia MONDO:0013591 definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL9A1 G2P00138 COL9A1-related Stickler syndrome MONDO:0013590 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL9A2 G2P01356 COL9A2-related multiple epiphyseal dysplasia MONDO:0010844 definitive dominant negative 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL9A2 G2P00725 COL9A2-related Stickler syndrome MONDO:0013666 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL9A3 G2P01100 COL9A3-related multiple epiphyseal dysplasia MONDO:0010964 definitive dominant negative 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COL9A3 G2P02091 COL9A3-related Stickler syndrome MONDO:0031047 limited loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COLEC10 G2P02324 COLEC10-related 3MC syndrome MONDO:0009554 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COLEC11 G2P00562 COLEC11-related 3MC syndrome MONDO:0009927 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COMP G2P01483 COMP-related multiple epiphyseal dysplasia MONDO:0007561 limited dominant negative 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COPB1 G2P03110 COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly MONDO:0031002 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COPB2 G2P03129 COPB2-related developmental delay and microcephaly MONDO:0054716 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COPB2 G2P03194 COPB2-related developmental delay and osteopenia MONDO:0859253 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COQ2 G2P00162 COQ2-related coenzyme Q10 deficiency MONDO:0011829 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COQ4 G2P00277 COQ4-related coenzyme Q10 deficiency, primary strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COQ5 G2P00825 COQ5-related intellectual developmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COQ8A G2P01465 COQ8A-related coenzyme Q10 deficiency MONDO:0012784 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COQ9 G2P00804 COQ9-related coenzyme Q10 deficiency definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COX10 G2P01068 COX10-related Leigh syndrome MONDO:0033635 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COX14 G2P01079 COX14-related mitochondrial complex IV deficiency MONDO:0033639 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COX15 G2P01351 COX15-related Leigh syndrome definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COX16 G2P03066 COX16-related developmental disorder MONDO:0859160 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COX18 G2P03567 COX18-related peripheral neuropathy limited loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COX6B1 G2P01545 COX6B1-related mitochondrial complex IV deficiency MONDO:0033637 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. COX7B G2P00874 COX7B-related microphthalmia with linear skin lesions MONDO:0010474 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CPAMD8 G2P01901 CPAMD8-related anterior segment dysgenesis MONDO:0015017 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CPAP G2P00937 CPAP-related developmental disorder MONDO:0012029 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CPN1 G2P02461 CPN1-related carboxypeptidase N deficiency MONDO:0008910 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CPSF3 G2P03239 CPSF3-related neurodevelopmental disorder with seizures and microcephaly MONDO:0859250 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRADD G2P01409 CRADD-related intellectual developmental disorder with variant lissencephaly MONDO:0013785 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRB1 G2P01195 CRB1-related Leber congenital amaurosis MONDO:0013453 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRB1 G2P02807 CRB1-related macular dystrophy MONDO:0020242 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRB1 G2P01958 CRB1-related pigmented paravenous chorioretinal atrophy limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRB1 G2P01957 CRB1-related retinitis pigmentosa MONDO:0010818 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRB2 G2P02583 CRB2-related retinitis pigmentosa MONDO:0019200 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRB2 G2P00472 CRB2-related ventriculomegaly with cystic kidney disease MONDO:0009063 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRBN G2P01339 CRBN-related intellectual developmental disorder MONDO:0011828 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CREBBP G2P02314 CREBBP-related intellectual disability without typical RTS features definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CREBBP G2P01631 CREBBP-related Rubinstein-Taybi syndrome MONDO:0008393 definitive loss of function 26 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRELD1 G2P01141 CRELD1-related atrioventricular septal defect susceptibility MONDO:0011650 limited undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRELD1 G2P03532 CRELD1-related neurodevelopmental disorder with hypotonia and seizures MONDO:0958329 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRIM1 G2P01860 CRIM1-related colobomatous macrophthalmia with microcornea syndrome limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRIPT G2P01691 CRIPT-related short stature, microcephaly, poikiloderma and skeletal abnormalities (Rothmund Thomson like) MONDO:0014347 strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRKL G2P02557 CRKL-related bladder exstrophy plus limited undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRLF1 G2P02470 CRLF1-related cold induced sweating syndrome MONDO:0010091 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRLS1 G2P03459 CRLS1-related mitochondrial disorder MONDO:0859337 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRX G2P00531 CRX-related Leber congenital amaurosis MONDO:0013449 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRX G2P02806 CRX-related macular dystrophy MONDO:0020242 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRYAA G2P01964 CRYAA-related cataract, multiple types MONDO:0011413 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRYAA G2P00727 CRYAA-related cataract, nuclear MONDO:0011413 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRYAB G2P03443 CRYAB-related alpha-related B crystallinopathy MONDO:0013472 definitive dominant negative 16 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRYAB G2P01965 CRYAB-related cataract, multiple types MONDO:0013411 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRYAB G2P00588 CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRYBA1 G2P00750 CRYBA1-related cataract MONDO:0010948 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRYBA2 G2P02092 CRYBA2-related cataract MONDO:0007283 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRYBA4 G2P01130 CRYBA4-related cataract with or wihout microcornea or microphthalmia MONDO:0012489 definitive undetermined non-loss-of-function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRYBB1 G2P00596 CRYBB1-related cataract, multiple types MONDO:0012688 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRYBB1 G2P02846 CRYBB1-related cataract, multiple types MONDO:0012688 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRYBB2 G2P00092 CRYBB2-related cataract MONDO:0011104 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRYBB3 G2P00941 CRYBB3-related cataract MONDO:0012336 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRYBB3 G2P03086 CRYBB3-related cataract MONDO:0012336 moderate undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRYGB G2P02093 CRYGB-related cataract, multiple types MONDO:0014075 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRYGC G2P00239 CRYGC-related congenital cataract MONDO:0100436 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRYGD G2P00742 CRYGD-related cataract MONDO:0007281 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CRYGS G2P02094 CRYGS-related cataract, multiple types MONDO:0007284 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CSDE1 G2P03123 CSDE1-related intellectual disability and autism limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CSF1R G2P02773 CSF1R-related brain abnormalities, neurodegeneration, and dysosteosclerosis MONDO:0032772 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CSNK1G1 G2P00754 CSNK1G1-related early infantile epileptic encephalopathy and microcephaly limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CSNK2A1 G2P01702 CSNK2A1-related neurodevelopmental disorder (Okur-Chung syndrome) MONDO:0014893 definitive gain of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CSRP3 G2P03827 CSRP3-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CSRP3 G2P03891 CSRP3-related hypertrophic cardiomyopathy MONDO:0012804 definitive loss of function 21 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CSRP3 G2P03892 CSRP3-related hypertrophic cardiomyopathy MONDO:0012804 definitive loss of function 21 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CSTA G2P00115 CSTA-related exfoliative ichthyosis, ichthyosis bullosa of siemens-like MONDO:0011937 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CSTB G2P01560 CSTB-related Unverricht-Lundborg disease MONDO:0009698 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTBP1 G2P02856 CTBP1-related hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome MONDO:0060666 strong loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTC1 G2P00930 CTC1-related cerebroretinal microangiopathy with calcifications and cysts MONDO:0024564 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTC1 G2P03402 CTC1-related dyskeratosis congenita MONDO:0015780 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTDP1 G2P01135 CTDP1-related congenital cataracts, dysmorphism and neuropathy MONDO:0011402 definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTF1 G2P03828 CTF1-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTNNA1 G2P02095 CTNNA1-related macular dystrophy, butterfly-shaped pigmentary MONDO:0012162 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTNNA2 G2P02537 CTNNA2-related disordered cortical neuronal migration MONDO:0032578 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTNNA3 G2P03792 CTNNA3-related arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTNND1 G2P01975 CTNND1-related blepharo-cheiro-dontic syndrome MONDO:0040503 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTNND2 G2P03025 CTNND2-related neurodevelopmental disorder MONDO:0700092 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTNS G2P00663 CTNS-related nephropathic cystinosis MONDO:0100151 definitive loss of function 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTR9 G2P03535 CTR9-related neurodevelopmental disorder MONDO:1040006 moderate dominant negative 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTR9 G2P03352 CTR9-related Wilms tumour MONDO:0024676 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTSA G2P00579 CTSA-related galactosialidosis MONDO:0009737 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTSC G2P02688 CTSC-related Haim-Munk syndrome MONDO:0009491 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTSD G2P02096 CTSD-related neuronal ceroid lipofuscinosis MONDO:0012414 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTSK G2P01386 CTSK-related pycnodysostosis MONDO:0009940 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CTU2 G2P02839 CTU2-related microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome MONDO:0020647 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CUL3 G2P02907 CUL3-related developmental disorder MONDO:0030994 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CUL4B G2P01087 CUL4B-related syndromic intellectual developmental disorder, Cabezas type MONDO:0010306 definitive loss of function 12 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CUL7 G2P01479 CUL7-related 3-M syndrome MONDO:0010117 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CUX1 G2P02990 CUX1-related neurodevelopmental disorder MONDO:0032680 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CUX2 G2P02420 CUX2-related developmental epileptic encephalopathy MONDO:0029138 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CWC27 G2P02236 CWC27-related retinitis pigmentosa, short stature, skeletal anomalies and intellectual disability with or without ectodermal features MONDO:0009598 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CWF19L1 G2P03486 CWF19L1-related developmental delay with epilepsy, progressive ataxia and cerebellar atrophy MONDO:0014503 strong undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CYB5R3 G2P01407 CYB5R3-related methemoglobinemia due to deficiency of methemoglobin reductase MONDO:0009606 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CYBA G2P02465 CYBA-related chronic granulomatous disease cytochrome b negative definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CYC1 G2P00894 CYC1-related mitochondrial complex III deficiency, nuclear MONDO:0014194 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CYFIP2 G2P02991 CYFIP2-related epileptic encephalopathy, early infantile MONDO:0033374 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CYLD G2P01803 CYLD-related cylindromatosis, familial MONDO:0007565 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CYP1B1 G2P01364 CYP1B1-related primary congenital glaucoma, type 3A MONDO:0009277 definitive undetermined 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CYP27A1 G2P02068 CYP27A1-related cerebrotendinous xanthomatosis MONDO:0008948 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CYP2U1 G2P00349 CYP2U1-related spastic paraplegia MONDO:0014015 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CYP4V2 G2P02067 CYP4V2-related Bietti crystalline corneoretinal dystrophy MONDO:0008865 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. CYP51A1 G2P01959 CYP51A1-related congenital cataract MONDO:0005129 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DACT1 G2P02805 DACT1-related multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems MONDO:0054582 limited loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DARS1 G2P01417 DARS1-related hypomyelination with brain stem and spinal cord involvement and leg spasticity MONDO:0014115 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DARS2 G2P00445 DARS2-related leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation MONDO:0012622 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DAW1 G2P03400 DAW1-related ciliopathy MONDO:0957922 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DCAF17 G2P00641 DCAF17-related Woodhouse-Sakati syndrome MONDO:0009419 limited loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DCC G2P02255 DCC-related midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability MONDO:0054602 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DCDC2 G2P01329 DCDC2-related renal-hepatic ciliopathy MONDO:0014537 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DCHS1 G2P01280 DCHS1-related periventricular neuronal heterotopia MONDO:0011070 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DCLRE1C G2P02701 DCLRE1C-related Omenn syndrome MONDO:0011338 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DCN G2P02097 DCN-related corneal dystrophy, congenital stromal definitive dominant negative 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DCX G2P01630 DCX-related lissencephaly MONDO:0010239 definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DCX G2P00526 DCX-related subcortical band heterotopia MONDO:0020491 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DDB1 G2P03117 DDB1-related neurodevelopmental syndrome MONDO:0859169 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DDB2 G2P00177 DDB2-related xeroderma pigmentosum, group E, ddb-negative subtype MONDO:0010213 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DDC G2P00302 DDC-related aromatic L-amino acid decarboxylase deficiency MONDO:0012084 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DDHD1 G2P00188 DDHD1-related spastic paraplegia MONDO:0012256 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DDHD2 G2P00757 DDHD2-related complex hereditary spastic paraplegia MONDO:0014018 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DDOST G2P01589 DDOST-related congenital disorder of glycosylation MONDO:0013789 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DDR2 G2P00916 DDR2-related spondyloepimetaphyseal dysplasia short limb-hand type MONDO:0010077 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DDR2 G2P03648 DDR2-related Warburg-Cinotti syndrome MONDO:0032579 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DDX11 G2P01609 DDX11-related Warsaw breakage syndrome MONDO:0013252 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DDX17 G2P03731 DDX17-related neurodevelopmental disorder MONDO:0700092 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DDX23 G2P02872 DDX23-related developmental disorder MONDO:0700092 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DDX41 G2P03363 DDX41-related myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to MONDO:0014809 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DDX54 G2P02757 DDX54-related intellectual disability and central nervous system anomalies limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DDX59 G2P01525 DDX59-related orofaciodigital syndrome MONDO:0008267 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DDX6 G2P02445 DDX6-related intellectual disability MONDO:0032851 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DEAF1 G2P02423 DEAF1-related autism, intellectual disability, basal ganglia dysfunction and epilepsy strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DEAF1 G2P00255 DEAF1-related intellectual developmental disorder definitive dominant negative 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DEGS1 G2P02814 DEGS1-related leukodystrophy, hypomyelinating MONDO:0032730 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DENND5A G2P01902 DENND5A-related epileptic encephalopathy MONDO:0015002 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DENND5B G2P03547 DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DES G2P03269 DES-related dilated cardiomyopathy MONDO:0011482 definitive undetermined 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DES G2P03291 DES-related myofibrillar myopathy MONDO:0011076 definitive undetermined 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DES G2P03292 DES-related myofibrillar myopathy MONDO:0011076 definitive undetermined 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DGAT1 G2P01277 DGAT1-related congenital diarrheal disorder limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DHCR24 G2P00629 DHCR24-related desmosterolosis MONDO:0011217 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DHCR7 G2P01401 DHCR7-related Smith-Lemli-Opitz syndrome MONDO:0010035 definitive loss of function 14 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DHDDS G2P02379 DHDDS-related epilepsy and intellectual disability MONDO:0044326 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DHDDS G2P02070 DHDDS-related retinitis pigmentosa MONDO:0013468 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DHFR G2P00614 DHFR-related megaloblastic anemia due to dihydrofolate reductase deficiency MONDO:0013456 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DHODH G2P00307 DHODH-related postaxial acrofacial dysostosis MONDO:0009903 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DHPS G2P02644 DHPS-related neurodevelopmental disorder of hypusination MONDO:0032775 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DHRS3 G2P02351 DHRS3 related craniosynostosis MONDO:0015469 limited undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DHTKD1 G2P00317 DHTKD1-related 2-aminoadipic and 2-oxoadipic aciduria MONDO:0008774 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DHX16 G2P02756 DHX16-related intellectual disability, central nervous system anomalies and seizures limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DHX30 G2P02380 DHX30-related neurodevelopmental disorder MONDO:0060622 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DHX32 G2P02389 DHX32-related retinitis pigmentosa MONDO:0019200 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DHX34 G2P02758 DHX34-related intellectual disability MONDO:0001071 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DHX37 G2P02755 DHX37-related intellectual disability and central nervous system anomalies MONDO:0032888 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DHX38 G2P02098 DHX38-related retinitis pigmentosa MONDO:0019200 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DHX9 G2P03505 DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease MONDO:0975838 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DICER1 G2P03391 DICER1-related tumor predisposition definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DIP2B G2P01009 DIP2B-related intellectual developmental disorder, FRA12A type MONDO:0007634 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DIP2C G2P03573 DIP2C-related developmental disorder with speech delay moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DIS3L2 G2P01354 DIS3L2-related Perlman syndrome MONDO:0009965 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DISP1 G2P03019 DISP1-related holoprosencephaly limited loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DKC1 G2P01293 DKC1-related dyskeratosis congenita MONDO:0010584 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DLAT G2P00267 DLAT-related pyruvate dehydrogenase E2 deficiency MONDO:0009502 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DLG2 G2P03568 DLG2-related neurodevelopmental disorder limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DLG3 G2P01297 DLG3-related intellectual developmental disorder MONDO:0010452 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DLG4 G2P01892 DLG4-related intellectual disability MONDO:0032919 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DLG5 G2P03044 DLG5-related developmental disorder MONDO:0958205 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DLG5 G2P03045 DLG5-related developmental disorder MONDO:0958205 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DLL1 G2P02789 DLL1-related neurodevelopmental disorder with nonspecific brain abnormalities, with or without seizures MONDO:0032877 moderate loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DLL3 G2P00233 DLL3-related spondylocostal dysostosis MONDO:0020692 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DLL4 G2P01680 DLL4-related Adams-Oliver syndrome MONDO:0014703 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DLX5 G2P00118 DLX5-related split-hand and foot malformation MONDO:0009080 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DMP1 G2P00309 DMP1-related hypophosphatemic rickets MONDO:0009430 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNA2 G2P00662 DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts MONDO:0014350 limited undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNAAF11 G2P00494 DNAAF11-related primary ciliary dyskinesia MONDO:0013979 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNAAF19 G2P01230 DNAAF19-related primary ciliary dyskinesia MONDO:0013854 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNAAF3 G2P00655 DNAAF3-related primary ciliary dyskinesia MONDO:0011718 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNAAF4 G2P00454 DNAAF4-related primary ciliary dysplasia MONDO:0014203 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNAAF5 G2P01197 DNAAF5-related primary ciliary dyskinesia MONDO:0013940 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNAAF6 G2P01906 DNAAF6-related primary ciliary dyskinesia with outer and inner dynein arm defects MONDO:0010517 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNAH14 G2P03316 DNAH14-related neurodevelopmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNAH9 G2P02630 DNAH9-related motile cilia defects and situs inversus MONDO:0032664 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNAJB13 G2P01870 DNAJB13-related primary ciliary dyskinesia and male infertility MONDO:0014909 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNAJB4 G2P03398 DNAJB4-related myopathy with early respiratory failure MONDO:0957224 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNAJC12 G2P01908 DNAJC12-related hyperphenylalaninemia, dystonia, and intellectual disability MONDO:0044304 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNAJC17 G2P02099 DNAJC17-related retinitis pigmentosa and hypogammaglobulinemia limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNM1 G2P03414 DNM1-related microcephaly, developmental and epileptic encephalopathy (biallelic) MONDO:0957248 moderate loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNM1 G2P00371 DNM1-related microcephaly, developmental and epileptic encephalopathy (monoallelic) MONDO:0957248 strong dominant negative 14 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNM1L G2P02853 DNM1L-related developmental disorder MONDO:0013726 strong undetermined 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNM1L G2P02363 DNM1L-related optic atrophy MONDO:0012543 strong dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNMT3A G2P02562 DNMT3A-related microcephalic primordial dwarfism MONDO:0032882 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNMT3A G2P00424 DNMT3A-related Tatton-Brown Rahman syndrome (overgrowth syndrome with intellectual disability) MONDO:0014382 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DNMT3B G2P00657 DNMT3B-related immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0009454 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DOCK2 G2P03778 DOCK2-related severe combined immunodeficiency MONDO:0014637 strong loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DOCK3 G2P03779 DOCK3-related neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661 moderate loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DOCK4 G2P03781 DOCK4-related neurodevelopmental disorder limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DOCK6 G2P00046 DOCK6-related Adams-Oliver syndrome MONDO:0013635 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DOCK7 G2P01335 DOCK7-related epileptic encephalopathy, early infantile MONDO:0014371 strong loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DOCK8 G2P00111 DOCK8-related hyper-IgE syndrome with recurrent infections definitive loss of function 23 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DOHH G2P03335 DOHH-related neurodevelopmental disorder MONDO:0859293 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DOLK G2P00513 DOLK-related congenital disorder of glycosylation MONDO:0012556 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DOT1L G2P03534 DOT1L-related neurodevelopmental disorder with intracranial anomalies moderate gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DPAGT1 G2P00915 DPAGT1-related congenital disorder of glycosylation MONDO:0011964 definitive undetermined 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DPAGT1 G2P00066 DPAGT1-related myasthenic syndrome, congenital, with tubular aggregates MONDO:0013883 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DPH5 G2P03318 DPH5-related neurodevelopmental disorder MONDO:0859295 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DPYD G2P02400 DPYD-related dihydropyrimidine dehydrogenase deficiency MONDO:0010130 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DPYSL5 G2P02874 DPYSL5-related developmental disorder MONDO:0030331 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DRAM2 G2P02100 DRAM2-related cone-rod dystrophy MONDO:0014669 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DRC1 G2P01567 DRC1-related primary ciliary dyskinesia MONDO:0014123 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DRC2 G2P01565 DRC2-related primary ciliary dyskinesia MONDO:0014215 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DRC4 G2P01683 DRC4-related primary ciliary dyskinesia MONDO:0014750 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DRG1 G2P03756 DRG1-related neurodevelopmental disorder with microcephaly and dysmorphic facial features (Tan-Almurshedi syndrome) MONDO:0957990 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSC2 G2P03247 DSC2-related arrhythmogenic right ventricular cardiomyopathy MONDO:0012506 definitive undetermined 15 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSC2 G2P03248 DSC2-related arrhythmogenic right ventricular cardiomyopathy MONDO:0012506 definitive undetermined 15 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSC3 G2P03657 DSC3-related hypotrichosis and recurrent skin vesicles MONDO:0013136 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSCAML1 G2P02390 DSCAML1-related retinitis pigmentosa MONDO:0019200 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSE G2P01694 DSE-related Ehlers-Danlos syndrome, musculocontractural MONDO:0014236 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSG1 G2P02734 DSG1-related palmoplantar keratoderma, striate MONDO:0007859 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSG1 G2P00545 DSG1-related severe dermatitis, multiple allergies and metabolic wasting strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSG2 G2P03249 DSG2-related arrhythmogenic right ventricular cardiomyopathy MONDO:0012434 definitive undetermined 12 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSG2 G2P03250 DSG2-related arrhythmogenic right ventricular cardiomyopathy MONDO:0012434 definitive undetermined 12 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSG2 G2P03829 DSG2-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSG3 G2P03653 DSG3-related blistering, acantholytic, of oral and laryngeal mucosa MONDO:0030986 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSG4 G2P02712 DSG4-related hypotrichosis, localised MONDO:0011932 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSP G2P03251 DSP-related arrhythmogenic right ventricular cardiomyopathy MONDO:0011831 definitive loss of function 18 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSP G2P03252 DSP-related arrhythmogenic right ventricular cardiomyopathy MONDO:0011831 definitive loss of function 18 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSP G2P03014 DSP-related developmental disorder MONDO:0700092 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSP G2P03509 DSP-related dilated cardiomyopathy MONDO:0011581 definitive undetermined 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSP G2P03885 DSP-related hypertrophic cardiomyopathy MONDO:0024573 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSP G2P02735 DSP-related palmoplantar keratoderma, striate MONDO:0013034 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSP G2P02509 DSP-related skin fragility, woolly hair MONDO:0011882 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSPP G2P00519 DSPP-related deafness with dentinogenesis imperfecta MONDO:0011571 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSPP G2P01561 DSPP-related dentinogenesis imperfecta, Shields type MONDO:0007441 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSTYK G2P02594 DSTYK-related complicated spastic paraparesis MONDO:0010046 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DSTYK G2P00203 DSTYK-related congenital anomalies of kidney and urinary tract, CAKUT MONDO:0012561 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DTHD1 G2P02069 DTHD1-related retinal dystrophy limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DTNA G2P03830 DTNA-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DVL1 G2P00201 DVL1-related Robinow syndrome MONDO:0014591 definitive gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DVL3 G2P01723 DVL3-related Robinow syndrome MONDO:0014819 definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DYM G2P01531 DYM-related Dyggve-Melchior-Clausen syndrome/Smith-McCort dysplasia MONDO:0009130 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DYNC1H1 G2P01629 DYNC1H1-related severe intellectual disability with neuronal migration disorder MONDO:0013805 definitive undetermined 15 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DYNC1H1 G2P00192 DYNC1H1-related spinal muscular atrophy, lower extremity-predominant definitive undetermined 19 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DYNC1I2 G2P02767 DYNC1I2-related neurodevelopmental disorder with microcephaly and structural brain anomalies MONDO:0032779 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DYNC2H1 G2P00668 DYNC2H1-related short-rib thoracic dysplasia with or without polydactyly MONDO:0013127 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DYNC2I1 G2P00593 DYNC2I1-related short-rib polydactyly MONDO:0014214 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DYNC2I2 G2P01550 DYNC2I2-related severe asphyxiating thoracic dysplasia MONDO:0014287 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. DYNC2LI1 G2P03232 DYNC2LI1-related short-rib polydactyly MONDO:0014907 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EBF3 G2P01883 EBF3-related intellectual disability, ataxia, and facial dysmorphism MONDO:0015021 definitive loss of function 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EBP G2P00129 EBP-related chondrodysplasia punctata MONDO:0020603 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ECHS1 G2P02827 ECHS1-related mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MONDO:0014563 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ECM1 G2P02974 ECM1-related lipoid proteinosis MONDO:0009530 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EDA G2P00706 EDA-related ectodermal dysplasia MONDO:0010585 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EDA G2P01337 EDA-related tooth agenesis selective MONDO:0010741 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EDAR G2P02418 EDAR-related hypohidrotic ectodermal dysplasia (biallelic) MONDO:0009147 definitive loss of function 18 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EDAR G2P02910 EDAR-related hypohidrotic ectodermal dysplasia (monoallelic) MONDO:0009147 definitive loss of function 12 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EDEM3 G2P03189 EDEM3-related congenital disorder of glycosylation MONDO:0030423 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EDN1 G2P01149 EDN1-related auriculocondylar syndrome MONDO:0014312 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EDN1 G2P02841 EDN1-related question mark ears, isolated MONDO:0013013 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EDN3 G2P02518 EDN3-related Waardenburg syndrome type IV MONDO:0013201 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EDN3 G2P03081 EDN3-related Waardenburg syndrome type IV MONDO:0013201 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EDNRA G2P01530 EDNRA-related mandibulofacial dysostosis with alopecia MONDO:0014608 definitive gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EED G2P02232 EED-related Weaver-like overgrowth syndrome MONDO:0060510 strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EEF1A2 G2P01600 EEF1A2-related infantile epileptic encephalopathy MONDO:0014625 strong gain of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EEF1B2 G2P00612 EEF1B2-related intellectual developmental disorder MONDO:0700092 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EEF2 G2P02877 EEF2-related developmental disorder MONDO:0700092 limited loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EFEMP1 G2P02071 EFEMP1-related Doyne honeycomb degeneration of retina MONDO:0007471 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EFEMP2 G2P02992 EFEMP2-related cutis laxa MONDO:0013754 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EFL1 G2P03761 EFL1-related Shwachman-Diamond syndrome MONDO:0044205 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EFNB1 G2P01522 EFNB1-related craniofrontonasal syndrome MONDO:0010570 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EFTUD2 G2P01236 EFTUD2-related mandibulofacial dysostosis with microcephaly MONDO:0012516 definitive loss of function 22 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EIF2AK1 G2P02947 EIF2AK1-related neurodevelopmental syndrome MONDO:0030036 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EIF2AK2 G2P02948 EIF2AK2-related developmental delay, leukoencephalopathy, and neurologic decompensation MONDO:0030035 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EIF2B2 G2P02803 EIF2B2-related leukoencephalopathy with vanishing white matter MONDO:0800448 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EIF2B4 G2P02975 EIF2B4-related leukoencephalopathy with vanishing white matter MONDO:0957872 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EIF2B5 G2P02976 EIF2B5-related leukoencephalopathy with vanishing white matter MONDO:0957873 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EIF2S3 G2P01778 EIF2S3-related syndromic intellectual disability with severe microcephaly MONDO:0010258 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EIF3A G2P03902 EIF3A-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism MONDO:0100038 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EIF3B G2P03903 EIF3B-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism MONDO:0100038 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EIF3F G2P02658 EIF3F-related developmental disorder MONDO:0032662 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EIF4A2 G2P03472 EIF4A2-related neurodevelopmental disorder MONDO:0957541 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EIF4A2 G2P03471 EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy MONDO:0957541 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EIF4A3 G2P01453 EIF4A3-related Richieri-Costa-Pereira syndrome MONDO:0009998 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EIF5A G2P03102 EIF5A-related craniofacial-neurodevelopmental disorder MONDO:0859163 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ELAC2 G2P00840 ELAC2-related infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency MONDO:0014190 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ELANE G2P03346 ELANE-related neutropenia strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ELFN1 G2P03199 ELFN1-related intellectual disability and epilepsy moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ELMO2 G2P01866 ELMO2-related intraosseous vascular malformation MONDO:0011744 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ELN G2P00258 ELN-related cutis laxa MONDO:0007411 definitive loss of function 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ELP1 G2P02697 ELP1-related neuropathy, hereditary sensory and autonomic MONDO:0009131 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ELP2 G2P00778 ELP2-related intellectual developmental disorder MONDO:0014996 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ELP4 G2P02073 ELP4-related aniridia MONDO:0014937 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EMC1 G2P01724 EMC1-related global developmental delay, hypotonia, scoliosis, and cerebellar atrophy MONDO:0014811 strong loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EMC1 G2P02847 EMC1-related global developmental delay, hypotonia, scoliosis, and cerebellar atrophy MONDO:0014811 limited dominant negative 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EMC10 G2P03103 EMC10-related neurodevelopmental disorder MONDO:0700092 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EMG1 G2P01877 EMG1-related Bowen-Conradi syndrome MONDO:0008879 strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EMX2 G2P01119 EMX2-related familial schizencephaly MONDO:0010011 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ENPP1 G2P03613 ENPP1-related Cole disease MONDO:0014227 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ENPP1 G2P01590 ENPP1-related generalised arterial calcification of infancy and hypophosphataemic rickets MONDO:0008817 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ENTPD1 G2P01520 ENTPD1-related intellectual developmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EOGT G2P00844 EOGT-related Adams-Oliver syndrome MONDO:0014124 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EOMES G2P01605 EOMES-related polymicrogyria and corpus callosum agenesis MONDO:0015745 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EP300 G2P02391 EP300-related retinitis pigmentosa MONDO:0019200 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EP300 G2P00793 EP300-related Rubinstein-Taybi syndrome MONDO:0013364 definitive loss of function 19 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EPB41L1 G2P01970 EPB41L1-related intellectual disability MONDO:0013658 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EPB41L3 G2P03579 EPB41L3-related developmental disorder with delayed myelination and seizures MONDO:0100038 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EPG5 G2P00812 EPG5-related immunodeficiency, cardiomyopathy, cataract, hypopigmentation, and absent corpus callosum MONDO:0009452 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EPHA2 G2P01963 EPHA2-related cataract MONDO:0007288 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EPHB4 G2P02556 EPHB4-related capillary malformation-arteriovenous malformation MONDO:0020785 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EPRS1 G2P02598 EPRS1-related hypomyelinating leukodystrophy MONDO:0054782 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EPS8L3 G2P03675 EPS8L3-related Marie Unna hereditary hypotrichosis MONDO:0013017 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ERBB3 G2P02558 ERBB3-related Hirschprung disease with intestinal pseudo-obstruction MONDO:8000011 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ERBB3 G2P01134 ERBB3-related lethal congenital contracture syndrome MONDO:0011868 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ERCC1 G2P01521 ERCC1-related cerebrooculofacioskeletal syndrome MONDO:0012554 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ERCC2 G2P00436 ERCC2-related cerebrooculofacioskeletal syndrome MONDO:0012553 definitive loss of function 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ERCC2 G2P02101 ERCC2-related trichothiodystrophy photosensitive MONDO:0011125 definitive loss of function 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ERCC2 G2P01805 ERCC2-related xeroderma pigmentosum, group D MONDO:0010212 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ERCC3 G2P02102 ERCC3-related trichothiodystrophy photosensitive MONDO:0014615 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ERCC3 G2P00181 ERCC3-related xeroderma pigmentosum, group B MONDO:0012531 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ERCC5 G2P01104 ERCC5-related xeroderma pigmentosum, group G MONDO:0010216 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ERCC6L2 G2P00990 ERCC6L2-related bone marrow failure syndrome MONDO:0014317 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ERF G2P02079 ERF-related Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia MONDO:0014956 definitive gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ERF G2P01529 ERF-related complex craniosynostosis MONDO:0010929 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ERI1 G2P03516 ERI1-related brachydactyly and mild neurodevelopmental delay MONDO:0958005 moderate loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ERI1 G2P03515 ERI1-related severe growth restriction and skeletal dysplasia MONDO:0958006 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ERLIN2 G2P00030 ERLIN2-related intellectual developmental disorder limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ERMARD G2P01154 ERMARD-related periventricular heterotopia MONDO:0014240 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ESAM G2P03498 ESAM-related neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity MONDO:0957267 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ESCO2 G2P01152 ESCO2-related Roberts syndrome MONDO:0100253 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ESPN G2P00225 ESPN-related deafness with or without vestibular involvement MONDO:0012170 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ESPN G2P02430 ESPN-related Usher syndrome MONDO:0032841 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ESRRB G2P00264 ESRRB-related deafness MONDO:0012060 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ETHE1 G2P01385 ETHE1-related ethylmalonic encephalopathy MONDO:0011229 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EVC G2P00250 EVC-related acrofacial dysostosis, Weyers type MONDO:0008673 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EVC2 G2P01261 EVC2-related acrofacial dysostosis, Weyers type MONDO:0008673 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EXOSC2 G2P03397 EXOSC2-related short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome MONDO:0044634 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EXOSC3 G2P00730 EXOSC3-related pontocerebellar hypoplasia MONDO:0013853 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EXOSC8 G2P03576 EXOSC8-related pontocerebellar hypoplasia MONDO:0014485 moderate loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EXOSC9 G2P02601 EXOSC9-related cerebellar atrophy with spinal motor neuronopathy MONDO:0054844 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EXT1 G2P00733 EXT1-related multiple exostoses MONDO:0007585 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EXT1 G2P02513 EXT1-related trichorhinopharangeal syndrome (Langer-Giedon) definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EXT2 G2P00486 EXT2-related multiple exostoses MONDO:0007586 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EXTL3 G2P02593 EXTL3-related neuro immuno skeletal dysplasia syndrome MONDO:0044312 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EYA1 G2P00149 EYA1-related branchiootorenal syndrome MONDO:0007236 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EYA4 G2P01237 EYA4-related deafness MONDO:0011031 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EYA4 G2P03831 EYA4-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EYS G2P01911 EYS-related retinitis pigmentosa MONDO:0019200 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EZH1 G2P03523 EZH1-related neurodevelopmental disorder MONDO:0700092 moderate gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. EZH1 G2P03524 EZH1-related neurodevelopmental disorder MONDO:0700092 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. F12 G2P02456 F12-related angioneurotic oedema, hereditary, with normal C1 inhibitor concentration and function MONDO:0012526 definitive gain of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FA2H G2P02103 FA2H-related spastic paraplegia MONDO:0012866 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FAM111A G2P00527 FAM111A-related Kenny-Caffey syndrome MONDO:0007478 definitive gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FAM111B G2P03615 FAM111B-related poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) MONDO:0014310 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FAM149B1 G2P02784 FAM149B1-related ciliopathy-related syndromic intellectual disability MONDO:0032902 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FAM161A G2P00968 FAM161A-related retinitis pigmentosa MONDO:0011630 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FAM177A1 G2P03707 FAM177A1-related neurodevelopmental disorder with macrocephaly MONDO:0100038 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FAM20A G2P00908 FAM20A-related amelogenesis imperfecta and gingival fibromatosis syndrome MONDO:0008771 definitive loss of function 16 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FAM20C G2P00960 FAM20C-related Raine syndrome MONDO:0009821 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FAR1 G2P00891 FAR1-related severe intellectual disability, epilepsy, and cataracts definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FARS2 G2P02587 FARS2-related neurometabolic disorder MONDO:0005066 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FASN G2P01238 FASN-related intellectual developmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FASTKD5 G2P03753 FASTKD5-related Leigh syndrome MONDO:0009723 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FAT4 G2P02792 FAT4-related Hennekam lymphangiectasia-lymphedema syndrome MONDO:0014454 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FAT4 G2P02794 FAT4-related Van Maldergem syndrome MONDO:0014242 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FBLN1 G2P00356 FBLN1-related synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses MONDO:0011984 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FBLN5 G2P02473 FBLN5-related cutis laxa definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FBLN5 G2P02475 FBLN5-related cutis laxa definitive dominant negative 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FBP1 G2P01306 FBP1-related fructose-1,6-bisphosphatase deficiency MONDO:0009251 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FBXL4 G2P01305 FBXL4-related fatal encephalopathy, lactic acidosis, and severe mitochondrial DNA depletion in muscle MONDO:0014198 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FBXO11 G2P02617 FBXO11-related variable neurodevelopmental disorder MONDO:0060760 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FBXO28 G2P03080 FBXO28-related developmental and epileptic encephalopathy with profound intellectual disability MONDO:0030695 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FBXW11 G2P02790 FBXW11-related syndromic intellectual disability MONDO:0030057 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FBXW4 G2P00400 FBXW4-related split-hand and foot malformation MONDO:0009525 limited undetermined 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FBXW7 G2P02875 FBXW7-related developmental disorder MONDO:0859280 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FCSK G2P02632 FCSK-related congenital disorder of glycosylation MONDO:0020777 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FDFT1 G2P02610 FDFT1-related defect in cholesterol biosynthesis MONDO:0032566 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FDFT1 G2P02392 FDFT1-related retinitis pigmentosa MONDO:0019200 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FDPS G2P03625 FDPS-related porokeratosis, multiple types MONDO:0014713 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FDXR G2P03502 FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO:0034092 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FEM1B G2P03565 FEM1B-related neurodevelopmental disorder with or without brain abnormalities moderate gain of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FEM1C G2P03453 FEM1C-related developmental disorder limited dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FEZF1 G2P00014 FEZF1-related hypogonadotropic hypogonadism with or without anosmia MONDO:0014461 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FEZF2 G2P03755 FEZF2-related neurodevelopmental disorder moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FGD1 G2P01461 FGD1-related Aarskog-Scott syndrome MONDO:0010589 definitive loss of function 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FGF10 G2P00886 FGF10-related lacrimo-auriculo-dento-digital syndrome (LADD) MONDO:0859578 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FGF12 G2P01882 FGF12-related epileptic encephalopathy MONDO:0014949 definitive gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FGF13 G2P03095 FGF13-related neurodevelopmental disorder MONDO:0025353 strong gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FGF13 G2P03096 FGF13-related neurodevelopmental disorder MONDO:0025353 limited gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FGF14 G2P03026 FGF14-related episodic ataxia definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FGF3 G2P00715 FGF3-related deafness with labyrinthine aplasia, microtia and microdontia MONDO:0012541 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FGF9 G2P01214 FGF9-related multiple synostoses syndrome MONDO:0013064 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FGFR1 G2P01725 FGFR1-related encephalocraniocutaneous lipomatosis MONDO:0013074 definitive gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FGFR1 G2P02359 FGFR1-related Hartsfield syndrome definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FGFR1 G2P00875 FGFR1-related hypogonadotropic hypogonadism with or without anosmia MONDO:0007844 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FGFR1 G2P00414 FGFR1-related osteoglophonic dysplasia MONDO:0008150 definitive gain of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FGFR1 G2P00622 FGFR1-related Pfeiffer syndrome MONDO:0007043 definitive gain of function 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FH G2P00235 FH-related fumarase deficiency MONDO:0011730 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FH G2P01806 FH-related leiomyomatosis and renal cell cancer MONDO:0007888 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FHL1 G2P03293 FHL1-related Emery-Dreifuss muscular dystrophy MONDO:0010680 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FIBP G2P03508 FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome) moderate loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FICD G2P03557 FICD-related infancy-onset diabetes and neurodevelopmental disorder limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FIG4 G2P01470 FIG4-related cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia (Yunis-Varon syndrome) MONDO:0008995 strong loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FILIP1 G2P03503 FILIP1-related arthrogryposis multiplex congenita with microcephaly MONDO:0958332 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FKBP10 G2P03324 FKBP10-related Bruck syndrome MONDO:0009806 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FKBP14 G2P01253 FKBP14-related Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss MONDO:0013800 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FKBP15 G2P02523 FKBP15-related Wiskott-Aldrich syndrome definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FLAD1 G2P01740 FLAD1-related riboflavin-responsive and non-responsive multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FLCN G2P01807 FLCN-related Birt-Hogg-Dube syndrome MONDO:0800445 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FLG2 G2P03642 FLG2-related peeling skin syndrome MONDO:0054852 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FLNA G2P00323 FLNA-related congenital idiopathic intestinal pseudoobstruction MONDO:0010232 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FLNA G2P00057 FLNA-related epileptic encephalopathy MONDO:0100062 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FLNA G2P00775 FLNA-related frontometaphyseal dysplasia MONDO:0024550 definitive gain of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FLNA G2P00269 FLNA-related Melnick-Needles syndrome MONDO:0010650 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FLNA G2P00850 FLNA-related otopalatodigital syndrome MONDO:0019027 definitive undetermined 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FLNA G2P02315 FLNA-related periventricular nodular heterotopia MONDO:0010233 definitive loss of function 34 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FLNA G2P00187 FLNA-related terminal osseous dysplasia MONDO:0010279 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FLNC G2P03270 FLNC-related dilated cardiomyopathy MONDO:0005021 definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FLNC G2P03294 FLNC-related myofibrillar myopathy MONDO:0012289 definitive undetermined 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FLT4 G2P03441 FLT4-related congenital heart disease MONDO:0032913 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FLT4 G2P01266 FLT4-related Milroy disease MONDO:0007919 definitive undetermined 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FLVCR1 G2P00551 FLVCR1-related ataxia, posterior column, with retinitis pigmentosa MONDO:0012177 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FLVCR2 G2P00348 FLVCR2-related proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome MONDO:0009168 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FMN2 G2P00678 FMN2-related nonsyndromic intellectual disability MONDO:0014524 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FN1 G2P02384 FN1-related spondylometaphyseal dysplasia with corner fractures MONDO:0008479 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FNBP4 G2P02106 FNBP4-related MAC spectrum with limb anomalies limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FOLR1 G2P01093 FOLR1-related neurodegeneration due to cerebral folate transport deficiency MONDO:0013110 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FOSL2 G2P03482 FOSL2-related neurodevelopmental disorder with scalp and enamel defects MONDO:0968978 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FOXC2 G2P01254 FOXC2-related lymphedema-distichiasis syndrome MONDO:0007922 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FOXD3 G2P02107 FOXD3-related anterior segment dysgenesis MONDO:0019503 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FOXE1 G2P00542 FOXE1-related Bamforth-Lazarus syndrome MONDO:0009437 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FOXE3 G2P00846 FOXE3-related anterior segment mesenchymal dysgenesis definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FOXE3 G2P02395 FOXE3-related congenital cataract MONDO:0005129 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FOXE3 G2P03084 FOXE3-related congenital cataract MONDO:0005129 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FOXE3 G2P00050 FOXE3-related congenital primary aphakia MONDO:0012456 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FOXG1 G2P01018 FOXG1-related congenital variant of Rett syndrome MONDO:0100040 definitive loss of function 17 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FOXI3 G2P03399 FOXI3-related microtia and craniofacial microsomia MONDO:0958194 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FOXL2 G2P00393 FOXL2-related blepharophimosis, ptosis, and epicanthus inversus syndrome MONDO:0007201 definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FOXN1 G2P00099 FOXN1-related alopecia and T-cell immunodeficiency MONDO:0011132 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FOXP1 G2P01397 FOXP1-related intellectual developmental disorder with language impairment and autistic features MONDO:0013352 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FOXP2 G2P00045 FOXP2-related speech-language disorder strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FOXP4 G2P03059 FOXP4-related developmental disorder MONDO:0700092 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FOXRED1 G2P01612 FOXRED1-related mitochondrial complex I deficiency MONDO:0032624 definitive loss of function 19 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FRA10AC1 G2P03336 FRA10AC1-related neurodevelopmental disorder MONDO:0859312 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FRAS1 G2P01580 FRAS1-related Fraser syndrome MONDO:0054737 definitive loss of function 14 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FREM1 G2P01053 FREM1-related Manitoba oculotrichoanal syndrome MONDO:0009560 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FREM2 G2P00214 FREM2-related Fraser syndrome MONDO:0054738 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FRMD5 G2P03410 FRMD5-related developmental disorder MONDO:0859305 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FRMD7 G2P00559 FRMD7-related nystagmus, congenital MONDO:0010693 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FRMPD4 G2P02008 FRMPD4-related intellectual disability MONDO:0010509 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FRRS1L G2P01745 FRRS1L-related epileptic encephalopathy with continuous spike-and-wave during sleep MONDO:0014859 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FRY G2P00190 FRY-related intellectual developmental disorder MONDO:0700092 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FRYL G2P03728 FRYL-related neurodevelopmental disorder with dysmorphic facial features, with or without congenital abnormalities MONDO:0975953 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FSCN2 G2P02108 FSCN2-related retinitis pigmentosa MONDO:0011935 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FSD1L G2P03926 FSD1L-related neurodevelopmental disorder with hydrocephalus and corpus callosum anomalies MONDO:0100038 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FTCD G2P00788 FTCD-related glutamate formiminotransferase deficiency MONDO:0009240 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FTL G2P00035 FTL-related hereditary hyperferritinemia-cataract syndrome MONDO:0010952 definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FTSJ1 G2P01178 FTSJ1-related intellectual developmental disorder MONDO:0010660 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FUCA1 G2P00947 FUCA1-related fucosidosis MONDO:0009254 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FUT8 G2P02590 FUT8-related congenital disorder of glycosylation with defective fucosylation MONDO:0020775 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FXR1 G2P03435 FXR1-related congenital myopathy MONDO:0019952 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FYCO1 G2P01302 FYCO1-related congenital cataract MONDO:0005129 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FZD4 G2P01912 FZD4-related exudative vitreoretinopathy MONDO:0007589 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FZD5 G2P01749 FZD5-related coloboma MONDO:0958239 strong dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FZD6 G2P00713 FZD6-related nail disorder non-syndromic congenital MONDO:0008060 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. FZR1 G2P03223 FZR1-related intellectual disability and epilepsy MONDO:0859325 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GABBR1 G2P03347 GABBR1-related neurodevelopmental disorder MONDO:0957779 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GABBR2 G2P01145 GABBR2-related epileptic encephalopathy MONDO:0033368 strong undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GABRA2 G2P03475 GABRA2-related epileptic encephalopathy MONDO:0032812 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GABRA4 G2P03766 GABRA4-related neurodevelopmental disorder with seizures MONDO:0100038 moderate undetermined non-loss-of-function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GABRB2 G2P02377 GABRB2-related epilepsy and intellectual disability MONDO:0020631 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GABRB3 G2P00479 GABRB3-related childhood absence epilepsy MONDO:0012843 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GABRD G2P03574 GABRD-related neurodevelopmental disorder with epilepsy MONDO:0100038 moderate gain of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GABRG1 G2P03350 GABRG1-related epileptic encephalopathy MONDO:0100062 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GALE G2P01299 GALE-related epimerase-deficiency galactosemia MONDO:0009257 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GALK1 G2P00470 GALK1-related galactokinase deficiency with cataracts MONDO:0009255 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GALNS G2P01614 GALNS-related mucopolysaccharidosis MONDO:0009659 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GALNT3 G2P02460 GALNT3-related calcinosis, tumoral with hyperphosphataemia MONDO:0100252 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GALT G2P00341 GALT-related galactosemia MONDO:0009258 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GAN G2P02489 GAN-related giant axonal neuropathy MONDO:0009749 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GAS2L2 G2P02642 GAS2L2-related impaired cilia orientation and mucociliary clearance MONDO:0032757 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GATA2 G2P01011 GATA2-related Emberger syndrome definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GATA6 G2P01324 GATA6-related atrial septal defect MONDO:0013770 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GATA6 G2P00110 GATA6-related atrioventricular septal defect MONDO:0013769 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GATA6 G2P00702 GATA6-related pancreatic agenesis, diaphragmatic hernia, and congenital heart defects definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GATAD1 G2P03832 GATAD1-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GATAD2B G2P00882 GATAD2B-related nonspecific severe intellectual disability definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GATM G2P01587 GATM-related arginine:glycine amidinotransferase deficiency definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GBA2 G2P01179 GBA2-related cerebellar ataxia with spasticity MONDO:0013737 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GBE1 G2P03142 GBE1-related glycogen storage disease IV definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GCH1 G2P01085 GCH1-related dystonia MONDO:0007495 definitive undetermined 46 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GCH1 G2P01026 GCH1-related GTP cyclohydrolase 1 deficiency definitive undetermined 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GCNT2 G2P02109 GCNT2-related cataract with adult i phenotype MONDO:0007289 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GDF1 G2P01190 GDF1-related congenital heart defects, multiple types MONDO:0013463 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GDF11 G2P03217 GDF11-related vertebral hypersegmentation, orofacial anomalies and neurodevelopmental disorder MONDO:0030871 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GDF3 G2P02110 GDF3-related microphthalmia with coloboma MONDO:0013376 limited undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GDF3 G2P02111 GDF3-related microphthalmia, isolated MONDO:0013377 limited undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GDF3 G2P00932 GDF3-related multiple malformations MONDO:0013375 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GDF6 G2P02112 GDF6-related microphthalmia MONDO:0021129 definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GDF6 G2P00462 GDF6-related oculo-skeletal syndrome MONDO:0007306 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GDI1 G2P00161 GDI1-related intellectual developmental disorder MONDO:0010451 limited loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GEMIN4 G2P02994 GEMIN4-related neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities MONDO:0060664 strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GEMIN5 G2P03127 GEMIN5-related neurodevelopmental disorder with cerebellar atrophy and motor dysfunction MONDO:0859152 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GFER G2P00771 GFER-related mitochondrial progressive myopathy with congenital cataract, hearing loss and developmental delay MONDO:0013116 moderate loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GFM1 G2P00141 GFM1-related combined oxidative phosphorylation deficiency definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GGCX G2P02113 GGCX-related pseudoxanthoma elasticum-like skin manifestations with eye anomalies definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GHR G2P00276 GHR-related pituitary dwarfism II MONDO:0009877 definitive loss of function 14 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GIGYF1 G2P02879 GIGYF1-related developmental disorder MONDO:0700092 limited loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GJA1 G2P03687 GJA1-related erythrokeratodermia variabilis et progressiva MONDO:0033013 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GJA1 G2P01511 GJA1-related oculodentodigital dysplasia (biallelic) MONDO:0008111 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GJA1 G2P02114 GJA1-related oculodentodigital dysplasia (monoallelic) MONDO:0008111 definitive dominant negative 41 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GJA1 G2P03686 GJA1-related palmoplantar keratoderma with congenital alopecia MONDO:0007083 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GJA3 G2P01295 GJA3-related cataract MONDO:0011162 definitive undetermined 12 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GJA8 G2P01251 GJA8-related cataract MONDO:0007285 definitive undetermined 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GJB3 G2P01007 GJB3-related deafness (biallelic) MONDO:0009076 moderate loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GJB3 G2P00409 GJB3-related deafness (monoallelic) MONDO:0009076 moderate loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GJB3 G2P00260 GJB3-related erythrokeratodermia variabilis et progressiva MONDO:0033010 strong undetermined 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GJB6 G2P00073 GJB6-related deafness MONDO:0012977 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GJB6 G2P02115 GJB6-related ectodermal dysplasia, Clouston type MONDO:0007510 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GJC2 G2P00695 GJC2-related leukodystrophy, hypomyelinating MONDO:0012125 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GJC2 G2P00533 GJC2-related lymphatic malformation MONDO:0013278 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GK G2P01227 GK-related glycerol kinase deficiency MONDO:0010613 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GLB1 G2P01159 GLB1-related GM1-gangliosidosis, type 3 MONDO:0009262 definitive loss of function 12 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GLDN G2P01886 GLDN-related lethal arthroogryposis MONDO:0014965 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GLE1 G2P01494 GLE1-related arthrogryposis, lethal, with anterior horn cell disease MONDO:0012750 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GLI3 G2P00272 GLI3-related Greig cephalopolysyndactyly syndrome MONDO:0008287 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GLI3 G2P01300 GLI3-related Pallister-Hall syndrome MONDO:0007804 definitive dominant negative 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GLIS2 G2P01626 GLIS2-related nephronophthisis MONDO:0012680 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GLIS3 G2P01435 GLIS3-related diabetes mellitus neonatal with congenital hypothyroidism MONDO:0012436 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GLMN G2P01505 GLMN-related glomuvenous malformations MONDO:0007672 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GLRA1 G2P03168 GLRA1-related hyperexplexia MONDO:0007868 definitive undetermined 14 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GLRA1 G2P03169 GLRA1-related hyperexplexia MONDO:0007868 definitive loss of function 17 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GLRB G2P03170 GLRB-related hyperexplexia MONDO:0013828 limited undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GLRB G2P03171 GLRB-related hyperexplexia MONDO:0013828 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GLUD1 G2P00184 GLUD1-related hyperinsulinism-hyperammonemia syndrome MONDO:0011717 definitive gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GLUL G2P00560 GLUL-related congenital systemic glutamine deficiency MONDO:0012393 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GM2A G2P01527 GM2A-related GM2-gangliosidosis, type AB MONDO:0010099 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GMNN G2P01661 GMNN-related primordial dwarfism associated with Meier-Gorlin syndrome MONDO:0014794 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GMPPA G2P01599 GMPPA-related alacrima, achalasia and intellectual disability MONDO:0014219 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNA11 G2P01732 GNA11-related congenital hemangioma MONDO:0018715 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNA14 G2P01868 GNA14-related congenital vascular tumours MONDO:0024296 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNAI1 G2P01703 GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities MONDO:0859243 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNAI3 G2P01127 GNAI3-related auriculocondylar syndrome MONDO:0011234 definitive undetermined 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNAO1 G2P00548 GNAO1-related epileptic encephalopathy MONDO:0014199 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNAQ G2P01731 GNAQ-related congenital hemangioma MONDO:0018715 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNAQ G2P02193 GNAQ-related familial Sturge-Weber syndrome limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNAQ G2P02194 GNAQ-related Sturge-Weber syndrome MONDO:0008501 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNAT1 G2P02120 GNAT1-related Night blindness, congenital stationary, autosomal dominant 3 MONDO:0012497 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNAT1 G2P02121 GNAT1-related Night blindness, congenital stationary, type 1G MONDO:0014614 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNAT1 G2P02119 GNAT1-related rod-cone dystrophy MONDO:0004580 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNAT2 G2P02122 GNAT2-related Achromatopsia 4 MONDO:0013465 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNB1 G2P01737 GNB1-related severe neurodevelopmental disability, hypotonia, and seizures MONDO:0014855 definitive gain of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNB2 G2P02876 GNB2-related developmental disorder MONDO:0859185 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNB3 G2P01738 GNB3-related congenital stationary night blindness MONDO:0014872 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNB5 G2P01873 GNB5-related sinus bradycardia and cognitive disability strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNE G2P03240 GNE-related congenital myopathy MONDO:0019952 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNE G2P03241 GNE-related sialuria MONDO:0010028 limited undetermined 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNPAT G2P00370 GNPAT-related rhizomelic chondrodysplasia punctata MONDO:0009112 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNPTAB G2P01041 GNPTAB-related mucolipidosis type III complementation group A MONDO:0018931 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNPTG G2P00901 GNPTG-related mucolipidosis type III complementation group C MONDO:0009652 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GNS G2P00592 GNS-related mucopolysaccharidosis MONDO:0009658 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GOLGA2 G2P03228 GOLGA2-related myopathy, seizures and microcephaly MONDO:0859375 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GON4L G2P00580 GON4L-related intellectual developmental disorder MONDO:0700092 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GORAB G2P01761 GORAB-related geroderma osteodysplasticum MONDO:0009271 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GOT2 G2P02788 GOT2-related malate-aspartate shuttle-related encephalopathy MONDO:0032880 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GPAA1 G2P02385 GPAA1-related developmental delay, epilepsy, cerebellar atrophy, and osteopenia MONDO:0060627 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GPATCH3 G2P02356 GPATCH3-related congenital glaucoma MONDO:0020366 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GPC3 G2P01632 GPC3-related Simpson-Golabi-Behmel syndrome MONDO:0020602 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GPC4 G2P02774 GPC4-related Keipert syndrome MONDO:0009720 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GPC6 G2P01500 GPC6-related omodysplasia MONDO:0009779 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GPD1L G2P03807 GPD1L-related Brugada syndrome MONDO:0015263 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GPHN G2P03172 GPHN-related molybdenum cofactor deficiency MONDO:0014212 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GPNMB G2P03643 GPNMB-related amyloidosis, primary localised cutaneous MONDO:0054765 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GPR143 G2P01985 GPR143-related ocular albinism MONDO:0017304 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GPR179 G2P02124 GPR179-related night blindness, congenital stationary (complete) MONDO:0013807 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GPR45 G2P02394 GPR45-related cone-rod dystrophy MONDO:0015993 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GPSM2 G2P00125 GPSM2-related sensorineural hearing loss with corpus callosum hypoplasia, gray matter heterotopia and arachnoid cysts MONDO:0011411 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GPX4 G2P01700 GPX4-related spondylometaphyseal dysplasia, Sedaghatian type MONDO:0009593 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GREB1L G2P03035 GREB1L-related renal hypodysplasia/aplasia MONDO:0024520 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GREM1 G2P01839 GREM1-related hereditary mixed polyposis MONDO:0011023 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRHL2 G2P00084 GRHL2-related ectodermal dysplasia and short stature syndrome strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRHL2 G2P02433 GRHL2-related posterior polymorphous corneal dystrophy MONDO:0020364 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRHL3 G2P00501 GRHL3-related Van der Woude syndrome MONDO:0011712 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRIA1 G2P03135 GRIA1-related neurodevelopmental disorder MONDO:0030964 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRIA2 G2P02881 GRIA2-related developmental disorder MONDO:0030060 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRIA3 G2P01102 GRIA3-related intellectual developmental disorder MONDO:0010402 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRID2 G2P02915 GRID2-related cerebellar ataxia (biallelic) MONDO:0014530 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRID2 G2P02916 GRID2-related cerebellar ataxia (monoallelic) MONDO:0014530 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRIK2 G2P00418 GRIK2-related intellectual developmental disorder MONDO:0012614 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRIK2 G2P03193 GRIK2-related intellectual disability and hypomyelination MONDO:0859201 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRIN2B G2P00699 GRIN2B-related epileptic encelopathy MONDO:0014505 definitive undetermined 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRIN2B G2P00586 GRIN2B-related intellectual developmental disorder MONDO:0013509 definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRIN2D G2P01878 GRIN2D-related severe epileptic encephalopathy treatable with NMDA receptor channel blockers MONDO:0014947 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRIP1 G2P02125 GRIP1-related Fraser syndrome MONDO:0054739 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRK1 G2P02126 GRK1-related Oguchi disease MONDO:0013259 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRM1 G2P01412 GRM1-related congenital cerebellar ataxia MONDO:0013905 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRM6 G2P00961 GRM6-related congenital stationary night blindness MONDO:0009758 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRM7 G2P03374 GRM7-related neurodevelopmental disorder MONDO:0030063 strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GRXCR1 G2P00839 GRXCR1-related deafness MONDO:0013210 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GSC G2P03703 GSC-related short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) MONDO:0011227 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GSDME G2P00153 GSDME-related deafness MONDO:0010973 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GSN G2P02128 GSN-related amyloidosis, Finnish type MONDO:0007097 definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GSPT2 G2P01434 GSPT2-related intellectual disability MONDO:0001071 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GTF2E2 G2P01727 GTF2E2-related DNA repair-proficient trichothiodystrophy MONDO:0014841 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GTF2H5 G2P01355 GTF2H5-related trichothiodystrophy photosensitive MONDO:0014619 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GTF2IRD1 G2P03437 GTF2IRD1-related neurodevelopmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GTF3C3 G2P03915 GTF3C3-related neurodevelopmental disorder with hypoplasia of corpus callosum and/or cerebellar atrophy MONDO:0100038 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GTF3C5 G2P03729 GTF3C5-related neurodevelopmental disorder with growth restriction, skeletal anomalies, cerebellar hypoplasia and hearing loss MONDO:0100038 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GTPBP1 G2P03555 GTPBP1-related neurodevelopmental disorder with severe-profound intellectual disability, spasticity and ectodermal features MONDO:0975745 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GTPBP2 G2P02964 GTPBP2-related Jaberi-Elahi syndrome MONDO:0060711 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GTPBP3 G2P00911 GTPBP3-related mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy MONDO:0014525 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GUCA1A G2P02129 GUCA1A-related cone dystrophy MONDO:0011193 definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GUCA1A G2P02130 GUCA1A-related cone-rod dystrophy MONDO:0800326 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GUCA1A G2P02131 GUCA1A-related macular dystrophy MONDO:0020242 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GUCA1B G2P02132 GUCA1B-related retinal dystrophy MONDO:0013447 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GUCY2C G2P01572 GUCY2C-related familial diarrhea MONDO:0013825 definitive gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GUCY2C G2P00847 GUCY2C-related meconium ileus MONDO:0013843 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GUCY2D G2P02402 GUCY2D-related central areolar choroidal dystrophy MONDO:0008982 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GUCY2D G2P02401 GUCY2D-related cone-rod dystrophy MONDO:0015993 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GUCY2D G2P01924 GUCY2D-related Leber congenital amaurosis MONDO:0008764 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GUSB G2P00438 GUSB-related mucopolysaccharidosis MONDO:0009662 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. GZF1 G2P02133 GZF1-related joint laxity, short stature, and myopia MONDO:0060556 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. H1-4 G2P01971 H1-4-related Rahman syndrome MONDO:0044323 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. H2AC6 G2P02882 H2AC6-related developmental disorder MONDO:0700092 limited loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. H3-3A G2P02443 H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome MONDO:0030606 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. H3-3B G2P03308 H3-3B-related neurodevelopmental disorder MONDO:0030607 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. H3-4 G2P00751 H3-4-related intellectual developmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. H4C11 G2P02441 H4C11-related intellectual disability with facial dysmorphism MONDO:0030730 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. H4C2 G2P01538 H4C2-related intellectual developmental disorder MONDO:0700092 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. H4C3 G2P01969 H4C3-related Tessadori-Bicknell-van Haaften neurodevelopmental syndrome MONDO:0030729 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HAAO G2P03322 HAAO-related NAD deficiency disorder MONDO:0060554 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HACD1 G2P03114 HACD1-related congenital myopathy MONDO:0859264 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HACE1 G2P01648 HACE1-related disorder definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HADH G2P00085 HADH-related 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0017715 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HARS1 G2P00615 HARS1-related Usher syndrome MONDO:0013788 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HAVCR2 G2P03647 HAVCR2-related T-cell lymphoma, subcutaneous panniculitis-like MONDO:0019475 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HAX1 G2P01078 HAX1-related neutropenia, severe congenital MONDO:0012548 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HCCS G2P00295 HCCS-related linear skin defects with microphthalmia MONDO:0024552 moderate loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HCFC1 G2P01615 HCFC1-related cobalamin disorder MONDO:0010657 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HCFC1 G2P01358 HCFC1-related intellectual developmental disorder MONDO:0010657 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HCK G2P03667 HCK-related pulmonary and cutaneous vasculitis MONDO:0957204 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HCN4 G2P03808 HCN4-related Brugada syndrome MONDO:0015263 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HDAC3 G2P03596 HDAC3-related neurodevelopmental disorder MONDO:0700092 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HDAC4 G2P01338 HDAC4-related brachydactyly-intellectual developmental disorder syndrome MONDO:0859232 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HDAC4 G2P03202 HDAC4-related intellectual disability MONDO:0859232 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HDAC8 G2P00212 HDAC8-related Cornelia de Lange syndrome MONDO:0010471 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HDAC8 G2P02580 HDAC8-related Cornelia de Lange syndrome MONDO:0010471 definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HEATR5B G2P03785 HEATR5B-related pontocerebellar hypoplasia limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HECTD4 G2P03490 HECTD4-related neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum MONDO:0859516 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HECW2 G2P03392 HECW2-related neurodevelopmental disorder (biallelic) MONDO:0014995 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HECW2 G2P01893 HECW2-related neurodevelopmental disorder (monoallelic) MONDO:0014995 definitive undetermined 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HERC1 G2P02995 HERC1-related macrocephaly, dysmorphic facies, and psychomotor retardation MONDO:0014863 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HERC2 G2P03157 HERC2-related neurodevelopmental disorder strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HESX1 G2P00633 HESX1-related combined pituitary hormone deficiency MONDO:0013099 strong loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HESX1 G2P00231 HESX1-related septooptic dysplasia MONDO:0008428 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HEXB G2P00373 HEXB-related GM2-gangliosidosis MONDO:0010006 definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HGF G2P01496 HGF-related deafness MONDO:0012003 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HGSNAT G2P00450 HGSNAT-related mucopolysaccharidosis type IIIC MONDO:0009657 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HGSNAT G2P02134 HGSNAT-related retinitis pigmentosa MONDO:0014687 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HIBCH G2P01204 HIBCH-related 3-hydroxyisobutryl-CoA hydrolase deficiency MONDO:0009603 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HINT1 G2P00739 HINT1-related neuromyotonia and axonal neuropathy MONDO:0007646 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HIRA G2P03094 HIRA-related neurodevelopmental disorder MONDO:0700092 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HIVEP2 G2P01859 HIVEP2-related syndromic developmental delay with intellectual disability with or without microcephaly MONDO:0014858 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HJV G2P02526 HJV-related haemochromatosis, juvenile MONDO:0011216 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HK1 G2P02858 HK1-related neurodevelopmental disorder with visual defects and brain anomalies MONDO:0032807 strong undetermined non-loss-of-function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HK1 G2P01983 HK1-related retinitis pigmentosa MONDO:0044320 limited undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HKDC1 G2P02541 HKDC1-related retinitis pigmentosa MONDO:0019200 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HMGA2 G2P03917 HMGA2-related Silver-Russell-like syndrome MONDO:0020795 strong loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HMGB1 G2P03430 HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HMGB1 G2P03214 HMGB1-related intellectual disability MONDO:0001071 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HMGB3 G2P01861 HMGB3-related colobomatous microphthalmia, microcephaly, intellectual disability, and short stature limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HMGCR G2P03528 HMGCR-related limb-girdle muscular dystrophy MONDO:0957270 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HMGCS2 G2P01325 HMGCS2-related 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency MONDO:0011614 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HMX1 G2P00001 HMX1-related oculoauricular syndrome MONDO:0012802 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HNRNPA2B1 G2P03319 HNRNPA2B1-related early-onset oculopharyngeal muscular dystrophy MONDO:0958195 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HNRNPD G2P02883 HNRNPD-related developmental disorder MONDO:0700092 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HNRNPH1 G2P02970 HNRNPH1-related neurodevelopmental disorder MONDO:0700092 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HNRNPH2 G2P01875 HNRNPH2-related neurodevelopmental disorder strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HNRNPK G2P02651 HNRNPK-related Au-Kline syndrome MONDO:0014700 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HNRNPR G2P02768 HNRNPR-related intellectual disability MONDO:0859297 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HNRNPU G2P01366 HNRNPU-related epileptic encephalopathy MONDO:0033363 definitive loss of function 12 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HOXA1 G2P00123 HOXA1-related Bosley-Salih-Alorainy syndrome definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HOXA11 G2P01657 HOXA11-related radioulnar synostosis with amegakaryocytic thrombocytopenia MONDO:0024558 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HOXA13 G2P01221 HOXA13-related hand-foot-genital syndrome MONDO:0007698 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HOXB1 G2P00821 HOXB1-related facial paresis, congenital MONDO:0013880 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HOXC13 G2P00075 HOXC13-related pure hair and nail ectodermal dysplasia MONDO:0013976 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HOXD13 G2P00949 HOXD13-related brachydactyly-syndactyly syndrome MONDO:0012544 definitive undetermined 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HPD G2P00369 HPD-related hawkinsinuria MONDO:0007700 strong dominant negative 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HPD G2P00654 HPD-related tyrosinemia MONDO:0010162 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HPDL G2P03034 HPDL-related neurodegenerative disease MONDO:0033613 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HPGD G2P01463 HPGD-related cranioosteoarthropathy MONDO:0024546 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HPRT1 G2P01115 HPRT1-related Lesch-Nyhan syndrome MONDO:0010298 definitive loss of function 17 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HPS1 G2P01226 HPS1-related Hermansky-Pudlak syndrome MONDO:0008748 definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HPS3 G2P02135 HPS3-related Hermansky-Pudlak syndrome MONDO:0013555 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HPS4 G2P02136 HPS4-related Hermansky-Pudlak syndrome MONDO:0013556 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HPS5 G2P02137 HPS5-related Hermansky-Pudlak syndrome MONDO:0013557 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HPS6 G2P02138 HPS6-related Hermansky-Pudlak syndrome MONDO:0013558 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HPSE2 G2P00992 HPSE2-related urofacial syndrome MONDO:0009368 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HR G2P00780 HR-related alopecia universalis congenita MONDO:0008757 moderate undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HR G2P01231 HR-related atrichia with papular lesions MONDO:0008847 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HRURF G2P03673 HRURF-related Marie Unna hereditary hypotrichosis MONDO:0100522 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HS2ST1 G2P03072 HS2ST1-related developmental disorder MONDO:0030966 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HSD17B10 G2P00439 HSD17B10-related mitochondrial disease MONDO:0010327 definitive undetermined 19 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HSD17B4 G2P00921 HSD17B4-related D-bifunctional protein deficiency MONDO:0009855 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HSD3B7 G2P00983 HSD3B7-related bile acid synthesis defect, congenital MONDO:0011906 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HSF4 G2P03088 HSF4-related cataract (biallelic) MONDO:0007290 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HSF4 G2P00619 HSF4-related cataract (monoallelic) MONDO:0007290 definitive undetermined 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HSPD1 G2P00320 HSPD1-related leukodystrophy hypomyelinating MONDO:0012824 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HSPG2 G2P01209 HSPG2-related dyssegmental dysplasia, Silverman-Handmaker type MONDO:0009140 definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HSPG2 G2P02437 HSPG2-related Schwartz-Jampel syndrome MONDO:0100435 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HTRA2 G2P01785 HTRA2-related early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria MONDO:0044723 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HUWE1 G2P00191 HUWE1-related syndromic intellectual developmental disorder, Turner type MONDO:0010407 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HYAL1 G2P01357 HYAL1-related mucopolysaccharidosis MONDO:0011093 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HYAL2 G2P03231 HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies MONDO:0976127 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HYCC1 G2P00776 HYCC1-related leukodystrophy, hypomyelinating MONDO:0012514 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. HYDIN G2P01622 HYDIN-related primary ciliary dyskinesia MONDO:0012088 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IARS1 G2P01867 IARS1-related growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy MONDO:0014911 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IARS2 G2P00966 IARS2-related cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia MONDO:0014455 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ICOS G2P03666 ICOS-related combined immunodeficiency with recurrent sinopulmonary infections and recalcitrant warts MONDO:0011864 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IDH3A G2P02139 IDH3A-related retinitis pigmentosa MONDO:0019200 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IDH3B G2P02140 IDH3B-related retinitis pigmentosa MONDO:0012943 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IDS G2P00951 IDS-related mucopolysaccharidosis MONDO:0010674 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IDUA G2P00423 IDUA-related mucopolysaccharidosis MONDO:0011760 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IER3IP1 G2P03485 IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes MONDO:0031481 strong undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IFITM5 G2P01448 IFITM5-related osteogenesis imperfecta MONDO:0012591 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IFT122 G2P00514 IFT122-related cranioectodermal dysplasia MONDO:0021093 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IFT140 G2P00077 IFT140-related short-rib thoracic dysplasia with or without polydactyly MONDO:0009964 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IFT172 G2P00107 IFT172-related short-rib thoracic dysplasia with or without polydactyly MONDO:0014284 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IFT27 G2P02141 IFT27-related Bardet-Biedl syndrome MONDO:0014447 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IFT38 G2P02055 IFT38-related ciliopathy syndrome strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IFT38 G2P02056 IFT38-related Leber congenital amaurosis strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IFT43 G2P00347 IFT43-related cranioectodermal dysplasia MONDO:0013573 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IFT43 G2P02364 IFT43-related non-syndromic retinal degeneration MONDO:0036482 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IFT52 G2P02142 IFT52-related short-rib thoracic dysplasia with or without polydactyly MONDO:0014915 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IFT54 G2P02283 IFT54-related Senior-Loken syndrome MONDO:0014712 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IFT74 G2P03165 IFT74-related ciliopathy MONDO:0014926 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IFT80 G2P01252 IFT80-related asphyxiating thoracic dystrophy MONDO:0012644 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IFT88 G2P02540 IFT88-related non-syndromic retinal degeneration limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IGBP1 G2P01025 IGBP1-related agenesis of the corpus callosum with intellectual developmental disorder-ocular coloboma-micrognathia MONDO:0010333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IGF1 G2P01578 IGF1-related insulin-like growth factor I deficiency MONDO:0012110 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IGF1R G2P00965 IGF1R-related insulin-like growth factor I, resistance to MONDO:0010038 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IGF1R G2P02848 IGF1R-related insulin-like growth factor I, resistance to MONDO:0010038 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IGF2 G2P00448 IGF2-related Beckwith-Wiedemann syndrome MONDO:0016475 definitive gain of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IGF2 G2P00143 IGF2-related Silver-Russell syndrome MONDO:0014663 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IGFBP7 G2P01371 IGFBP7-related retinal arterial macroaneurysm with supravalvular pulmonic stenosis MONDO:0013640 strong loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IGHMBP2 G2P01191 IGHMBP2-related spinal muscular atrophy with respiratory distress definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IGSF1 G2P00989 IGSF1-related central hypothyroidism and testicular enlargement MONDO:0010475 definitive loss of function 25 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IHH G2P01359 IHH-related acrocapitofemoral dysplasia MONDO:0011907 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IHH G2P00942 IHH-related brachydactyly MONDO:0007215 definitive undetermined 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IKBKG G2P01422 IKBKG-related ectodermal dysplasia and immunodeficiency MONDO:0020740 definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IKBKG G2P00385 IKBKG-related incontinentia pigmenti MONDO:0010631 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IKZF2 G2P03521 IKZF2-related ICHAD syndrome limited dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IL11 G2P01476 IL11-related craniosynostosis limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IL11RA G2P01777 IL11RA-related craniosynostosis MONDO:0013615 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IL1RAPL1 G2P01180 IL1RAPL1-related intellectual developmental disorder MONDO:0010256 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IL36RN G2P03600 IL36RN-related psoriasis, pustular MONDO:0013626 limited undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IL7 G2P03622 IL7-related epidermodysplasia verruciformis, susceptibility to MONDO:0032667 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ILDR1 G2P01382 ILDR1-related deafness MONDO:0012326 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ILK G2P03833 ILK-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IMPDH1 G2P02144 IMPDH1-related Leber cogenital amaurosis MONDO:0013454 definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IMPDH1 G2P02143 IMPDH1-related retinitis pigmentosa MONDO:0008379 definitive dominant negative 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IMPG1 G2P02145 IMPG1-related macular dystrophy, vitelliform MONDO:0014508 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IMPG2 G2P02147 IMPG2-related macular dystrophy, vitelliform MONDO:0014509 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IMPG2 G2P02146 IMPG2-related retinitis pigmentosa MONDO:0013314 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. INPP4A G2P01556 INPP4A-related neurodevelopmental disorder with spasticity, epilepsy and cerebellar hypoplasia MONDO:0100038 moderate loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. INPP5E G2P00108 INPP5E-related intellectual development disorder, truncal obesity, retinal dystrophy, and micropenis definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. INPP5E G2P00306 INPP5E-related Joubert syndrome MONDO:0008944 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. INPP5K G2P01962 INPP5K-related muscular dystrophy, congenital, with cataracts, and intellectual disability MONDO:0024607 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. INPPL1 G2P01157 INPPL1-related opsismodysplasia MONDO:0009785 definitive undetermined 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. INSR G2P02448 INSR-related acanthosis nigricans and insulin resistance syndrome definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. INSR G2P02669 INSR-related leprechaunism MONDO:0009517 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. INTS1 G2P03525 INTS1-related neurodevelopmental disorder with cataracts, hypotonia and gait abnormality MONDO:0032817 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. INTS11 G2P03549 INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities MONDO:0957386 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IPO13 G2P02428 IPO13-related ocular coloboma, microphthalmia, and cataract strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IPO8 G2P03155 IPO8-related syndromic thoracic aortic aneurysm MONDO:0859177 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IQCB1 G2P02148 IQCB1-related Leber congenital amaurosis definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IQSEC1 G2P02832 IQSEC1-related intellectual disability, developmental delay, and short stature MONDO:0032870 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IQSEC2 G2P00063 IQSEC2-related intellectual developmental disorder MONDO:0010656 definitive loss of function 29 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IREB2 G2P03380 IREB2-related neurodevelopmental disorder MONDO:0032758 moderate undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IRF2BPL G2P02618 IRF2BPL-related neurodevelopmental disorder MONDO:0060759 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IRF6 G2P00783 IRF6-related popliteal pterygium syndrome MONDO:0007334 definitive gain of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IRF6 G2P00502 IRF6-related Van der Woude syndrome MONDO:0007333 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. IRX5 G2P00994 IRX5-related hypertelorism, severe, with midface prominence, myopia, intellectual developmental disorder, and bone fragility strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ITCH G2P00300 ITCH-related autoimmune disease, syndromic multisystem MONDO:0013245 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ITGA3 G2P00914 ITGA3-related interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital MONDO:0013881 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ITGA7 G2P01080 ITGA7-related congenital muscular dystrophy MONDO:0013177 moderate loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ITGA8 G2P01515 ITGA8-related renal hypodysplasia/aplasia MONDO:0024519 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ITK G2P03360 ITK-related lymphoproliferative syndrome MONDO:0016537 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ITM2B G2P02149 ITM2B-related retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MONDO:0014483 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ITPR1 G2P01735 ITPR1-related Gillespie Syndrome MONDO:0008795 definitive dominant negative 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ITPR1 G2P02849 ITPR1-related Gillespie Syndrome MONDO:0008795 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ITPR1 G2P01404 ITPR1-related spinocerebellar ataxia, congenital nonprogressive MONDO:0007298 strong undetermined 15 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. JAG1 G2P00637 JAG1-related Alagille syndrome MONDO:0016862 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. JAG2 G2P03146 JAG2-related muscular dystrophy MONDO:0030456 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. JAGN1 G2P00535 JAGN1-related severe congenital neutropenia MONDO:0014456 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. JAK3 G2P01066 JAK3-related severe combined immunodeficiency, T-cell negative, B-cell positive, NK-cell negative MONDO:0010938 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. JAM3 G2P00097 JAM3-related hemorrhagic destruction of the brain, subependymal calcification, and cataracts MONDO:0013394 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. JARID2 G2P03058 JARID2-related neurodevelopmental disorder MONDO:0859306 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. JKAMP G2P03927 JKAMP-related neurodevelopmental disorder with seizures, hypotonia, and microcephaly MONDO:0100038 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. JMJD1C G2P03427 JMJD1C-related neurodevelopmental disorder MONDO:0700092 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. JPH1 G2P03580 JPH1-related congenital myopathy with ptosis MONDO:0975808 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. JUP G2P03255 JUP-related Naxos disease MONDO:0011017 strong undetermined 15 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KANK1 G2P00380 KANK1-related cerebral palsy spastic quadriplegic MONDO:0013033 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KANK2 G2P03677 KANK2-related palmoplantar keratoderma and woolly hair MONDO:0014492 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KANSL1 G2P01073 KANSL1-related chromosome 17q21.31 microdeletion syndrome MONDO:0012496 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KARS1 G2P01375 KARS1-related deafness MONDO:0013489 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KARS1 G2P00220 KARS1-related leukoencephalopathy with or without deafness MONDO:0030893 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KAT5 G2P03041 KAT5-related neurodevelopmental syndrome MONDO:0030852 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KAT6A G2P00210 KAT6A-related intellectual developmental disorder definitive loss of function 26 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KAT6B G2P01611 KAT6B-related genitopatellar syndrome MONDO:0011640 definitive dominant negative 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KAT6B G2P00271 KAT6B-related Say-Barber-Biesecker-Young-Simpson syndrome definitive loss of function 26 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KATNB1 G2P02951 KATNB1-related complex cerebral malformations MONDO:0014534 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNA1 G2P03173 KCNA1-related epileptic encephalopathy MONDO:0100062 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNA1 G2P03174 KCNA1-related epileptic encephalopathy MONDO:0100062 limited undetermined 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNA2 G2P00366 KCNA2-related epileptic encephalopathy MONDO:0014607 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNA2 G2P02582 KCNA2-related epileptic encephalopathy MONDO:0014607 definitive gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNA4 G2P02801 KCNA4-related abnormal striatum, congenital cataract and intellectual disability MONDO:0032656 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNB2 G2P03788 KCNB2-related neurodevelopmental disorder moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNC1 G2P00467 KCNC1-related epilepsy, progressive myoclonic MONDO:0014521 definitive gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNC3 G2P00208 KCNC3-related spinocerebellar ataxia MONDO:0011529 strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCND2 G2P03544 KCND2-related neurodevelopmental disorder with or without seizures MONDO:1040003 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCND3 G2P03809 KCND3-related Brugada syndrome MONDO:0015263 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCND3 G2P02857 KCND3-related neurodevelopmental disorder with cerebellar ataxia and movement disorders MONDO:0700092 strong undetermined non-loss-of-function 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNE1 G2P00124 KCNE1-related Jervell and Lange-Nielsen syndrome MONDO:0012871 strong undetermined 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNE1 G2P00931 KCNE1-related long QT syndrome MONDO:0013372 limited undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNE3 G2P03810 KCNE3-related Brugada syndrome MONDO:0015263 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNH2 G2P03812 KCNH2-related Brugada syndrome MONDO:0015263 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNH2 G2P03284 KCNH2-related long QT syndrome MONDO:0013367 definitive loss of function 22 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNH2 G2P03264 KCNH2-related short QT syndrome MONDO:0012312 definitive gain of function 25 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNH5 G2P00923 KCNH5-related epilepsy and epileptic encephalopathy MONDO:0957812 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNJ10 G2P01184 KCNJ10-related seizures-sensorineural deafness-ataxia-intellectual developmental disorder-electrolyte imbalance MONDO:0013005 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNJ13 G2P01990 KCNJ13-related Leber congenital amaurosis MONDO:0013613 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNJ13 G2P01991 KCNJ13-related snowflake vitreoretinal degeneration MONDO:0008663 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNJ5 G2P03871 KCNJ5-related long QT syndrome MONDO:0002442 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNJ6 G2P00759 KCNJ6-related Keppen-Lubinsky syndrome MONDO:0013572 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNJ8 G2P03813 KCNJ8-related Brugada syndrome MONDO:0015263 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNJ8 G2P02588 KCNJ8-related Cantu syndrome MONDO:0009406 strong gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNK4 G2P02567 KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome MONDO:0032714 limited gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNK9 G2P00835 KCNK9-related Birk-Barel syndrome MONDO:0012856 limited dominant negative 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNMA1 G2P03175 KCNMA1-related developmental delay, seizures and cerebellar atrophy MONDO:0060551 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNMA1 G2P00511 KCNMA1-related generalized epilepsy and paroxysmal dyskinesia MONDO:0012276 definitive gain of function 20 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNN2 G2P03545 KCNN2-related neurodevelopmental disorder with or without movement disorder MONDO:0859225 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNN3 G2P02771 KCNN3-related Zimmermann-Laband syndrome MONDO:0032854 strong gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNQ3 G2P01704 KCNQ3-related syndrome MONDO:0700092 definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNQ5 G2P02226 KCNQ5-related intellectual disability with or without epileptic encephalopathy MONDO:0030911 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNQ5 G2P02914 KCNQ5-related intellectual disability with or without epileptic encephalopathy, activating MONDO:0030911 limited gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNT1 G2P00927 KCNT1-related epilepsy MONDO:0013989 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNT1 G2P00887 KCNT1-related malignant migrating partial seizures of infancy MONDO:0017385 definitive gain of function 35 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNT2 G2P02802 KCNT2-related developmental and infantile epileptic encephalopathy MONDO:0033366 limited gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCNV2 G2P02150 KCNV2-related retinal cone dystrophy definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KCTD7 G2P01396 KCTD7-related progressive myoclonic epilepsy MONDO:0016295 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KDELR2 G2P03065 KDELR2-related osteogenesis imperfecta MONDO:0030861 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KDM1A G2P02308 KDM1A-related developmental delay and distinctive facial features MONDO:0014751 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KDM1A G2P03406 KDM1A-related GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KDM2B G2P03439 KDM2B-related neurodevelopmental disorder MONDO:0700092 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KDM3B G2P02654 KDM3B-related Diets-Jongmans syndrome MONDO:0030012 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KDM4B G2P03078 KDM4B-related developmental disorder MONDO:0023657 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KDM5A G2P01352 KDM5A-related intellectual developmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KDM5B G2P01705 KDM5B-related neurodevelopmental disorder (biallelic) MONDO:0020850 strong loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KDM5B G2P02842 KDM5B-related neurodevelopmental disorder (monoallelic) MONDO:0700092 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KDM5C G2P01265 KDM5C-related syndromic intellectual developmental disorder MONDO:0010355 definitive loss of function 25 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KDM6B G2P02908 KDM6B-related developmental disorder MONDO:0032790 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KDM6B G2P01250 KDM6B-related intellectual developmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KDSR G2P03640 KDSR-related erythrokeratodermiavariabilis et progressiva MONDO:0033014 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KERA G2P01931 KERA-related cornea plana MONDO:0000733 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KIAA1549 G2P02539 KIAA1549-related retinitis pigmentosa MONDO:0019200 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KIDINS220 G2P03067 KIDINS220-related developmental disorder MONDO:0859184 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KIDINS220 G2P01884 KIDINS220-related spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KIF11 G2P00484 KIF11-related microcephaly with or without chorioretinopathy, lymphedema, and developmental delay MONDO:0007918 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KIF14 G2P02804 KIF14-related severe microcephaly and short stature MONDO:0054761 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KIF1A G2P00959 KIF1A-related NESCAV syndrome MONDO:0013656 definitive undetermined 26 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KIF1A G2P00963 KIF1A-related neuropathy, hereditary sensory MONDO:0013634 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KIF21A G2P01938 KIF21A-related fibrosis of extraocular muscles, congenital 1 MONDO:0021083 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KIF21A G2P01939 KIF21A-related fibrosis of extraocular muscles, congenital 3B MONDO:0800209 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KIF22 G2P01624 KIF22-related spondyloepimetaphyseal dysplasia with joint laxity MONDO:0011335 definitive gain of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KIF2A G2P01071 KIF2A-related malformations of cortical development and microcephaly MONDO:0014170 strong dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KIF3B G2P02969 KIF3B-related ciliopathy MONDO:0005308 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KIF4A G2P01439 KIF4A-related intellectual disability MONDO:0010488 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KIF5C G2P00729 KIF5C-related cortical dysplasia, complex, with other brain malformations MONDO:0014116 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KIFBP G2P00106 KIFBP-related Goldberg-Shprintzen megacolon syndrome MONDO:0012280 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KIRREL3 G2P00765 KIRREL3-related intellectual developmental disorder MONDO:0012947 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KITLG G2P01688 KITLG-related Waardenburg syndrome MONDO:0019517 limited dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KIZ G2P02151 KIZ-related retinitis pigmentosa MONDO:0014345 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KLF10 G2P03853 KLF10-related hypertrophic cardiomyopathy MONDO:0024573 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KLF7 G2P02987 KLF7-related developmental disorder MONDO:0700092 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KLF8 G2P00651 KLF8-related nonsyndromic intellectual developmental disorder limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KLHL15 G2P02009 KLHL15-related intellectual disability MONDO:0010508 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KLHL20 G2P03488 KLHL20-related developmental disorder with seizures MONDO:0100038 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KLHL7 G2P02566 KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures) MONDO:0014890 strong loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KLHL7 G2P02152 KLHL7-related retinitis pigmentosa MONDO:0013052 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KMT2A G2P01406 KMT2A-related Wiedemann-Steiner syndrome MONDO:0011518 definitive loss of function 18 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KMT2B G2P01862 KMT2B-related complex early-onset dystonia MONDO:0015004 strong loss of function 41 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KMT2E G2P02561 KMT2E-related neurodevelopmental disorder/O'Donnell-Luria-Rodan syndrome MONDO:0032793 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KMT5B G2P01712 KMT5B-related intellectual developmental disorder MONDO:0030917 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KNL1 G2P03784 KNL1-related primary microcephaly MONDO:0011437 strong loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KPNA7 G2P01769 KPNA7-related Gomez-Lopez-Fernandes syndrome limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KPTN G2P01155 KPTN-related macrocephaly, neurodevelopmental delay, and seizures MONDO:0014289 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRIT1 G2P00229 KRIT1-related cerebral cavernous malformation MONDO:0020724 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT1 G2P02718 KRT1-related ichthyosiform erythroderma, bullous definitive dominant negative 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT1 G2P02724 KRT1-related ichthyosis hystrix, Curth-Macklin type MONDO:0007808 definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT1 G2P02721 KRT1-related ichthyosis, cyclic with epidermolytic hyperkeratosis MONDO:0011870 definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT1 G2P02731 KRT1-related palmoplantar keratoderma Vorner-Unna-Thost (non-epidermolytic) definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT10 G2P02719 KRT10-related ichthyosiform erythroderma, bullous definitive dominant negative 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT10 G2P02722 KRT10-related ichthyosis, cyclic with epidermolytic hyperkeratosis MONDO:0011870 definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT12 G2P01936 KRT12-related Meesmann corneal dystrophy MONDO:0020791 definitive dominant negative 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT13 G2P02521 KRT13-related white sponge naevus definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT16 G2P02728 KRT16-related pachyonychia congenita Jadassohn-Lewandowsky definitive dominant negative 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT16 G2P02732 KRT16-related palmoplantar keratoderma Vorner-Unna-Thost (non-epidermolytic) definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT17 G2P02730 KRT17-related pachyonychia congenita, Jackson-Lawler type definitive dominant negative 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT17 G2P02510 KRT17-related steatocystoma multiplex definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT2 G2P02503 KRT2-related ichthyosis Bullosa of Siemens definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT25 G2P03627 KRT25-related woolly hair MONDO:0014765 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT3 G2P01935 KRT3-related Meesmann corneal dystrophy MONDO:0032904 strong dominant negative 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT4 G2P02520 KRT4-related white sponge naevus definitive dominant negative 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT6A G2P02727 KRT6A-related pachyonychia congenita Jadassohn-Lewandowsky definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT6B G2P02729 KRT6B-related pachyonychia congenita Jackson-Lawler definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT71 G2P03676 KRT71-related hypotrichosis MONDO:0014390 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT74 G2P00610 KRT74-related hypotrichosis and/or woolly hair MONDO:0013514 moderate undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT81 G2P02691 KRT81-related monilethrix MONDO:0008009 moderate dominant negative 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT83 G2P02692 KRT83-related monilethrix MONDO:0008009 moderate dominant negative 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT85 G2P02478 KRT85-related cctodermal dysplasia, pure hair/nail type MONDO:0011177 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT86 G2P02693 KRT86-related monilethrix MONDO:0008009 moderate dominant negative 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. KRT9 G2P02733 KRT9-related palmoplantar keratoderma Vorner-Unna-Thost (epidermolytic) definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. L1CAM G2P00197 L1CAM-related hydrocephalus due to stenosis of the aqueduct of sylvius definitive loss of function 15 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LAGE3 G2P02821 LAGE3-related Galloway-Mowat syndrome MONDO:0033006 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LAMA1 G2P00029 LAMA1-related cerebellar dysplasia with cysts with or without retinal dystrophy definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LAMA2 G2P00645 LAMA2-related congenital muscular dystrophy MONDO:0011925 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LAMA4 G2P03834 LAMA4-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LAMB1 G2P01170 LAMB1-related cobblestone brain malformation without muscular or ocular abnormalities MONDO:0014077 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LAMB2 G2P02350 LAMB2-related nephrotic syndrome with or without ocular abnormalities strong undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LAMB2 G2P02349 LAMB2-related Pierson syndrome MONDO:0012184 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LAMC3 G2P00134 LAMC3-related occipital cortical malformations MONDO:0013583 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LARP7 G2P01405 LARP7-related Alazami syndrome MONDO:0014031 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LARS2 G2P00856 LARS2-related Perrault syndrome MONDO:0014126 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LAS1L G2P02010 LAS1L-related intellectual disability limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LBR G2P01218 LBR-related hydrops-ectopic calcification-moth-eaten skeletal dysplasia MONDO:0008974 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LCA5 G2P02153 LCA5-related Leber congenital amaurosis MONDO:0011473 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LCAT G2P02154 LCAT-related fish-eye disease MONDO:0007620 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LDB3 G2P03793 LDB3-related arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LDB3 G2P03835 LDB3-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LDB3 G2P00544 LDB3-related myopathy myofibrillar MONDO:0012277 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LEF1 G2P03469 LEF1-related ectodermal dysplasia and limb malformation moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LEFTY2 G2P00907 LEFTY2-related heterotaxy syndrome MONDO:0018677 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LEMD2 G2P02155 LEMD2-related cataract, juvenile-onset MONDO:0008925 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LEMD2 G2P02782 LEMD2-related early progeroid syndrome MONDO:0859147 moderate undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LETM1 G2P03409 LETM1-related neurodevelopmental disorder MONDO:0859304 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LFNG G2P01136 LFNG-related spondylocostal dysostosis MONDO:0012349 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LGI4 G2P02237 LGI4-related arthrogryposis multiplex congenita MONDO:0060486 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LHFPL5 G2P00791 LHFPL5-related deafness MONDO:0012460 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LHX2 G2P03551 LHX2-related neurodevelopmental disorder with or without microcephaly MONDO:0100038 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LHX3 G2P01206 LHX3-related pituitary hormone deficiency combined MONDO:0009091 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LHX4 G2P00705 LHX4-related combined pituitary hormone deficiency MONDO:0009880 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LIFR G2P02511 LIFR-related Stuve-Wiedeman syndrome MONDO:0800043 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LIG4 G2P01028 LIG4-related syndrome definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LIM2 G2P02157 LIM2-related cataract, multiple types MONDO:0014111 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LINGO1 G2P02798 LINGO1 related intellectual disability with microcephaly, speech and motor delay MONDO:0020846 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LINS1 G2P01255 LINS1-related intellectual developmental disorder MONDO:0013702 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LIPH G2P03670 LIPH-related woolly hair with or without hypotrichosis/hypotrichosis MONDO:0011452 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LIPI G2P02711 LIPI-related hypertriglycidaemia, familial definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LIPN G2P01388 LIPN-related ichthyosis, lamellar MONDO:0013495 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LMBRD1 G2P00996 LMBRD1-related methylmalonic aciduria and homocystinuria MONDO:0010183 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LMBRD2 G2P03212 LMBRD2-related intellectual disability MONDO:0859218 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LMNB1 G2P03049 LMNB1-related developmental disorder MONDO:0030928 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LMNB2 G2P03056 LMNB2-related primary microcephaly MONDO:0030929 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LMOD2 G2P03476 LMOD2-related infantile dilated cardiomyopathy MONDO:0030887 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LMX1B G2P01347 LMX1B-related nail-patella syndrome MONDO:0008061 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LNPK G2P02614 LNPK-related neurodevelopmental disorder MONDO:0060761 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LONP1 G2P01139 LONP1-related CODAS syndrome MONDO:0010879 strong loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LONP1 G2P03209 LONP1-related congenital diaphragmatic hernia MONDO:0005711 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LORICRIN G2P02738 LORICRIN-related palmoplantar keratoderma Vohwinkel syndrome with ichthyosis definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LOX G2P03664 LOX-related congenital cutis laxawith pulmonary failure and arterial tortuosity limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LOXHD1 G2P01856 LOXHD1-related deafness MONDO:0013119 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LOXHD1 G2P01997 LOXHD1-related late-onset fuchs corneal dystrophy moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LPAR6 G2P03672 LPAR6-related hypotrichosis/woolly hair with or without hypotrichosis MONDO:0010206 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LRAT G2P00219 LRAT-related Leber congenital amaurosis MONDO:0013231 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LRBA G2P00728 LRBA-related childhood-onset hypogammaglobulinemia strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LRIG2 G2P01311 LRIG2-related urofacial syndrome MONDO:0014049 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LRIT3 G2P01373 LRIT3-related complete congenital stationary night blindness MONDO:0014026 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LRMDA G2P02039 LRMDA-related albinism, oculocutaneous MONDO:0014070 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LRP2 G2P00664 LRP2-related Donnai-Barrow syndrome MONDO:0009104 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LRP2 G2P00336 LRP2-related intellectual disability MONDO:0001071 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LRP4 G2P00814 LRP4-related Cenani-Lenz syndactyly syndrome MONDO:0008931 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LRP6 G2P01943 LRP6-related tooth agenesis MONDO:0014749 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LRPAP1 G2P00056 LRPAP1-related myopia, extreme MONDO:0014183 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LRPPRC G2P00242 LRPPRC-related Leigh syndrome, French-Canadian type definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LRRC45 G2P03923 LRRC45-related ciliopathy limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LRRC56 G2P02575 LRRC56-related mucociliary clearance and laterality defects MONDO:0032637 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LSM11 G2P03531 LSM11-related Aicardi-Goutieres syndrome limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LSS G2P02158 LSS-related cataract MONDO:0014673 strong undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LSS G2P03690 LSS-related hypotrichosis limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LSS G2P03691 LSS-related palmoplantar keratoderma-congenital alopecia syndrome MONDO:0008923 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LTBP1 G2P03154 LTBP1-related cutis laxa and craniosynostosis MONDO:0030337 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LTBP2 G2P01000 LTBP2-related microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma MONDO:0009633 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LTBP3 G2P01247 LTBP3-related platyspondyly with amelogenesis imperfecta definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LTV1 G2P03665 LTV1-related inflammatory poikiloderma with hair abnormalities and acral keratoses MONDO:0859355 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LYSET G2P03100 LYSET-related skeletal dysplasia MONDO:0018230 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LYST G2P00343 LYST-related Chediak-Higashi syndrome MONDO:0008963 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. LZTFL1 G2P02159 LZTFL1-related Bardet-Biedl syndrome MONDO:0014445 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAB21L1 G2P02576 MAB21L1-related cerebello-oculo-facio-genital syndrome MONDO:0032774 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAB21L2 G2P02160 MAB21L2-related syndromic microphthalmia MONDO:0014380 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAB21L2 G2P02850 MAB21L2-related syndromic microphthalmia MONDO:0014380 definitive gain of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MACF1 G2P02631 MACF1-related defects in neuronal migration and axon guidance MONDO:0032677 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MADD G2P03029 MADD-related developmental disorder MONDO:0033562 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAF G2P01427 MAF-related cataract MONDO:0012437 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAF G2P01853 MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation MONDO:0010992 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAFB G2P02161 MAFB-related Duane retraction syndrome MONDO:0014880 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAFB G2P03089 MAFB-related Duane retraction syndrome MONDO:0014880 limited dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAFB G2P00523 MAFB-related multicentric carpotarsal osteolysis syndrome MONDO:0008152 definitive gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAGEL2 G2P00080 MAGEL2-related Schaaf-Yang syndrome MONDO:0014243 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAGI2 G2P00822 MAGI2-related early onset epileptic encephalopathy MONDO:0100062 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAGT1 G2P01564 MAGT1-related intellectual developmental disorder MONDO:0010413 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAK G2P02162 MAK-related retinitis pigmentosa MONDO:0013611 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAMLD1 G2P01062 MAMLD1-related hypospadias MONDO:0010423 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAN1B1 G2P01138 MAN1B1-related intellectual developmental disorder MONDO:0013624 definitive undetermined 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAN2A2 G2P03421 MAN2A2-related disorder of glycosylation MONDO:0024322 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAN2B1 G2P01016 MAN2B1-related lysosomal alpha-mannosidosis MONDO:0009561 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAN2C1 G2P03242 MAN2C1-related neurodevelopmental disorder with cerebral malformations MONDO:0030770 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MANBA G2P00359 MANBA-related lysosomal beta-mannosidosis MONDO:0009562 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAOA G2P01440 MAOA-related Brunner syndrome MONDO:0010379 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAP2K1 G2P00634 MAP2K1-related cardiofaciocutaneous syndrome MONDO:0014113 definitive gain of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAP2K2 G2P01315 MAP2K2-related cardiofaciocutaneous syndrome MONDO:0014114 definitive gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAP3K1 G2P00719 MAP3K1-related 46XY sex reversal MONDO:0013410 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAP3K1 G2P03480 MAP3K1-related breast cancer, susceptibility to MONDO:0007254 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAP3K20 G2P03764 MAP3K20-related centronuclear myopathy MONDO:0054695 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAP3K20 G2P03762 MAP3K20-related ectodermal dysplasia with craniosynostosis, sensorineural hearing loss, and limb anomalies limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAP3K20 G2P03763 MAP3K20-related split-foot malformation with mesoaxial polydactyly MONDO:0014816 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAP3K7 G2P01776 MAP3K7-related frontometaphyseal dysplasia MONDO:0014935 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAP4K4 G2P03550 MAP4K4-related neurodevelopmental disorder with or without congenital anomalies MONDO:0100038 moderate loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAP4K4 G2P03716 MAP4K4-related neurodevelopmental disorder with or without congenital anomalies MONDO:0100038 moderate dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAPK1 G2P03039 MAPK1-related Noonan syndrome MONDO:0033669 moderate gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAPK10 G2P01001 MAPK10-related epileptic encephalopathy, Lennox-Gastaut type MONDO:0016532 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAPK8IP3 G2P02641 MAPK8IP3-related intellectual disability with variable brain anomalies MONDO:0032755 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAPKAPK3 G2P02163 MAPKAPK3-related macular dystrophy, patterned MONDO:0014920 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAPKAPK5 G2P03121 MAPKAPK5-related syndrome with synpolydactyly MONDO:0859247 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAPRE2 G2P01655 MAPRE2-related circumferential skin creases, Kunze type MONDO:0014755 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAPRE2 G2P03628 MAPRE2-related symmetric circumferential skin creases, congenital MONDO:0014755 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MARK3 G2P02425 MARK3-related visual impairment and progressive phthisis bulbi MONDO:0032655 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MARK4 G2P03713 MARK4-related neurodevelopmental disorder MONDO:0700092 limited gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MARVELD2 G2P00480 MARVELD2-related deafness MONDO:0012420 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MASP1 G2P00206 MASP1-related 3MC syndrome MONDO:0009770 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAST1 G2P02878 MAST1-related developmental disorder MONDO:0032648 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAST3 G2P03542 MAST3-related developmental and epileptic encephalopathy MONDO:0859314 moderate gain of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAT1A G2P00136 MAT1A-related methionine adenosyltransferase deficiency MONDO:0009607 strong loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MATN3 G2P00889 MATN3-related multiple epiphyseal dysplasia MONDO:0011765 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAU2 G2P02963 MAU2-related neurodevelopmental disorder MONDO:0700092 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MAX G2P01834 MAX-related pheochromocytoma, susceptibility to MONDO:0008233 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MBD4 G2P03405 MBD4-related multi-tumour predisposition syndrome moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MBD5 G2P01084 MBD5-related intellectual developmental disorder MONDO:0007974 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MBOAT7 G2P01885 MBOAT7-related intellectual disability accompanied by epilepsy and autistic features MONDO:0014962 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MBTPS2 G2P02667 MBTPS2-related keratosis follicularis spinulosa decalvans MONDO:0000136 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MBTPS2 G2P03607 MBTPS2-related Olmsted syndrome MONDO:0010486 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MC2R G2P01158 MC2R-related glucocorticoid deficiency MONDO:0024536 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MCCC1 G2P01242 MCCC1-related 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0008861 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MCCC2 G2P00530 MCCC2-related 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0008862 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MCEE G2P01147 MCEE-related methylmalonyl-CoA epimerase deficiency MONDO:0009615 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MCOLN1 G2P01528 MCOLN1-related mucolipidosis IV MONDO:0009653 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MCPH1 G2P01491 MCPH1-related microcephaly primary MONDO:0009617 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MDGA2 G2P03922 MDGA2-related developmental and epileptic encephalopathy with abnormal cranial MRI MONDO:0100620 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MDH2 G2P01905 MDH2-related early-onset severe encephalopathy MONDO:0015025 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MECOM G2P01656 MECOM-related radioulnar synostosis with amegakaryocytic thrombocytopenia MONDO:0014758 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MECR G2P01899 MECR-related childhood-onset dystonia and optic atrophy MONDO:0015003 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MED11 G2P03343 MED11-related neurodevelopmental disorder MONDO:0957225 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MED13 G2P02649 MED13-related neurodevelopmental disorder MONDO:0032485 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MED13L G2P00374 MED13L-related intellectual disability strong loss of function 15 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MED17 G2P00395 MED17-related microcephaly, postnatal progressive, with seizures and brain atrophy MONDO:0013351 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MED23 G2P00707 MED23-related intellectual developmental disorder MONDO:0013651 limited undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MED25 G2P02957 MED25-related Basel-Vanagaite-Smirin-Yosef syndrome MONDO:0014643 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MED27 G2P03097 MED27-related neurodevelopmental disorder MONDO:0859137 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MEF2C G2P00974 MEF2C-related intellectual developmental disorder, stereotypic movements, epilepsy and/or cerebral malformations MONDO:0013266 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MEGF10 G2P00193 MEGF10-related myopathy, early-onset, areflexia, respiratory distress, and dysphagia definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MEGF8 G2P01441 MEGF8-related Carpenter syndrome MONDO:0013998 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MEIS2 G2P02860 MEIS2-related disorder with cleft palate, cardiac defects, and developmental delay MONDO:0010970 strong loss of function 13 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MEOX1 G2P01474 MEOX1-related Klippel-Feil anomaly MONDO:0008958 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MERTK G2P02164 MERTK-related retinitis pigmentosa MONDO:0013469 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MESD G2P02810 MESD-related osteogenesis imperfecta MONDO:0032846 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MESP2 G2P00375 MESP2-related spondylocostal dysostosis MONDO:0012097 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. METTL23 G2P02938 METTL23-related intellectual disability MONDO:0014409 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. METTL5 G2P02809 METTL5-related intellectual disability and microcephaly MONDO:0032860 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MFF G2P02996 MFF-related encephalopathy due to defective mitochondrial and peroxisomal fission MONDO:0014905 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MFN2 G2P02166 MFN2-related Charcot-Marie-Tooth disease, axonal MONDO:0014906 definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MFN2 G2P03015 MFN2-related developmental disorder moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MFN2 G2P02165 MFN2-related hereditary motor and sensory neuropathy MONDO:0011002 definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MFRP G2P01594 MFRP-related microphthalmia isolated MONDO:0012605 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MFRP G2P02167 MFRP-related nanophthalmos MONDO:0012299 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MFRP G2P02823 MFRP-related non-syndromic retinitis pigmenta definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MFSD2A G2P01689 MFSD2A-related primary microcephaly definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MFSD6L G2P02168 MFSD6L-related congenital cataract MONDO:0005129 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MFSD8 G2P00435 MFSD8-related neuronal ceroid-lipofuscinosis MONDO:0012588 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MGAT2 G2P00337 MGAT2-related congenital disorder of glycosylation MONDO:0008908 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MGP G2P01331 MGP-related Keutel syndrome MONDO:0009495 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MIB1 G2P02886 MIB1-related developmental disorder MONDO:0700092 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MICU1 G2P00809 MICU1-related myopathy with extrapyramidal signs MONDO:0014300 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MID1 G2P00969 MID1-related Opitz GBBB syndrome MONDO:0010222 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MIP G2P01976 MIP-related cataract, multiple types MONDO:0014110 definitive dominant negative 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MIR140 G2P03725 MIR140-related spondyloepiphyseal dysplasia, Nishimura type MONDO:0032835 moderate gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MIR17HG G2P00628 MIR17HG-related Feingold syndrome MONDO:0013691 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MIR184 G2P01111 MIR184-related keratoconus with cataract (EDICT syndrome) MONDO:0013678 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MIR204 G2P02169 MIR204-related retinal dystrophy and iris coloboma with or without cataract MONDO:0014747 limited undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MIR96 G2P00286 MIR96-related deafness MONDO:0013114 moderate undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MITF G2P01904 MITF-related coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD syndrome) MONDO:0015014 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MITF G2P03351 MITF-related melanoma, cutaneous malignant MONDO:0013759 limited gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MITF G2P00723 MITF-related Tietz syndrome MONDO:0007077 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MITF G2P01057 MITF-related Waardenburg syndrome MONDO:0008671 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MKKS G2P00053 MKKS-related McKusick-Kaufman syndrome MONDO:0009367 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MLC1 G2P01194 MLC1-related leukoencephalopathy megalencephalic with subcortical cysts MONDO:0024555 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MLPH G2P02495 MLPH-related Griscelli syndrome definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MLYCD G2P00446 MLYCD-related malonyl-CoA decarboxylase deficiency MONDO:0009556 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MMACHC G2P01301 MMACHC-related methylmalonic aciduria and homocystinuria, cblC type MONDO:0010184 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MMADHC G2P00469 MMADHC-related methylmalonic aciduria and homocystinuria, cblD type MONDO:0010185 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MMGT1 G2P03016 MMGT1-related developmental disorder moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MMP13 G2P01239 MMP13-related metaphyseal anadysplasia MONDO:0009597 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MMP13 G2P00762 MMP13-related spondyloepimetaphyseal dysplasia, Missouri type MONDO:0011198 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MMP14 G2P01317 MMP14-related Winchester syndrome MONDO:0010201 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MMP15 G2P03317 MMP15-related developmental disorder limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MMP2 G2P02522 MMP2-related Winchester syndrome definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MMP21 G2P01650 MMP21-related heterotaxy MONDO:0014762 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MMS19 G2P03767 MMS19-related dihydropyrimidine dehydrogenase deficiency limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MN1 G2P02659 MN1-related C-terminal truncation syndrome MONDO:0032908 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MNX1 G2P00697 MNX1-related Currarino syndrome MONDO:0008305 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MOCS1 G2P00266 MOCS1-related molybdenum cofactor deficiency MONDO:0009643 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MOCS2 G2P00779 MOCS2-related molybdenum cofactor deficiency MONDO:0009644 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MOGS G2P00017 MOGS-related congenital disorder of glycosylation MONDO:0011629 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MORC2 G2P01894 MORC2-related axonal neuropathy and neurodevelopmental disorder MONDO:0030835 strong undetermined 19 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MPC2 G2P03458 MPC2-related metabolic disorder MONDO:0005066 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MPDU1 G2P00166 MPDU1-related congenital disorder of glycosylation MONDO:0012211 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MPDZ G2P00316 MPDZ-related nonsyndromic hydrocephalus MONDO:0014085 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MPI G2P00528 MPI-related congenital disorder of glycosylation MONDO:0011257 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MPLKIP G2P00196 MPLKIP-related trichothiodystrophy non-photosensitive MONDO:0021013 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MPV17 G2P01269 MPV17-related mitochondrial DNA depletion syndrome MONDO:0009747 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MPZ G2P02972 MPZ-related neuropathy, congenital hypomyelinating MONDO:0020765 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MRAP G2P02490 MRAP-related glucocorticoid deficiency MONDO:0011826 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MRE11 G2P00175 MRE11-related ataxia telangiectasia-like disorder MONDO:0024557 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MRPS2 G2P02599 MRPS2-related sensorineural hearing loss, hypoglycemia and multiple oxphos complex deficiencies MONDO:0054781 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MRPS22 G2P00122 MRPS22-related combined oxidative phosphorylation deficiency strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MRPS34 G2P02215 MRPS34-related Leigh syndrome with instability of the small mitoribosomal subunit MONDO:0054654 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MRTFB G2P03492 MRTFB-related neurodevelopmental disorder MONDO:0700092 limited gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MSI1 G2P02422 MSI1-related microcephaly MONDO:0001149 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MSL2 G2P02887 MSL2-related developmental disorder MONDO:0975836 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MSL3 G2P01706 MSL3-related intellectual developmental disorder MONDO:0026730 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MSRB3 G2P00666 MSRB3-related deafness MONDO:0013386 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MSX1 G2P00079 MSX1-related cleft lip with or without cleft palate MONDO:0012142 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MSX2 G2P01038 MSX2-related craniosynostosis MONDO:0011481 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MSX2 G2P00976 MSX2-related enlarged parietal foramina/cranium bifidum MONDO:0008198 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MT-ATP6 G2P02404 MT-ATP6-related neuropathy, ataxia, retinitis pigmentosa syndrome definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MT-ND1 G2P02015 MT-ND1-related Leber hereditary optic neuropathy MONDO:0010788 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MT-ND4 G2P02016 MT-ND4-related Leber hereditary optic neuropathy MONDO:0010788 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MT-ND5 G2P02405 MT-ND5-related Leber hereditary optic neuropathy MONDO:0010788 strong undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MT-ND6 G2P02406 MT-ND6-related Leber hereditary optic neuropathy MONDO:0010788 strong undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MT-TL1 G2P03132 MT-TL1-related mitochondrial disorder MONDO:0044970 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MT-TP G2P00432 MT-TP-related MERRF syndrome MONDO:0010790 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MTAP G2P03364 MTAP-related diaphyseal medullary stenosis with malignant fibrous histiocytoma MONDO:0007205 strong loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MTF1 G2P00598 MTF1-related intellectual disability MONDO:0001071 limited loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MTFMT G2P03507 MTFMT-related mitochondrial disease with regression and lactic acidosis MONDO:0013987 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MTHFR G2P00855 MTHFR-related methylenetetrahydrofolate deductase deficiency definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MTM1 G2P01133 MTM1-related myotubular myopathy MONDO:0010683 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MTO1 G2P00101 MTO1-related infantile hypertrophic cardiomyopathy and lactic acidosis definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MTOR G2P01220 MTOR-related Smith-Kingsmore syndrome MONDO:0014716 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MTR G2P01175 MTR-related methylcobalamin deficiency definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MTRFR G2P00524 MTRFR-related combined oxidative phosphorylation deficiency MONDO:0013306 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MTRR G2P00642 MTRR-related homocystinuria-megaloblastic anemia, cblE type definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MTSS2 G2P03349 MTSS2-related syndromic intellectual disability MONDO:0859303 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MTTP G2P02170 MTTP-related abetalipoproteinemia MONDO:0008692 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MUTYH G2P01812 MUTYH-related adenomas, multiple colorectal MONDO:0012041 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MVD G2P03624 MVD-related porokeratosis, multiple types MONDO:0013868 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MVK G2P02171 MVK-related hyper-IgD syndrome MONDO:0009849 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MVK G2P02172 MVK-related mevalonic aciduria MONDO:0012481 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MVK G2P03604 MVK-related porokeratosis, multiple types MONDO:0008293 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYBPC1 G2P02978 MYBPC1-related arthrogryposis and myopathy definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYBPC1 G2P02998 MYBPC1-related lethal congenital contracture syndrome MONDO:0013965 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYCBP2 G2P03396 MYCBP2-related developmental delay with corpus callosum defects limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYF5 G2P02542 MYF5-related external ophthalmoplegia, rib, and vertebral anomalies MONDO:0032565 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYH10 G2P01930 MYH10-related multiple congenital anomalies MONDO:0700281 moderate dominant negative 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYH11 G2P02559 MYH11-related megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0025708 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYH6 G2P00379 MYH6-related atrial septal defect MONDO:0013567 limited loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYH6 G2P03837 MYH6-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYH6 G2P03854 MYH6-related hypertrophic cardiomyopathy MONDO:0024573 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYH8 G2P00801 MYH8-related Carney complex variant refuted undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYH8 G2P03499 MYH8-related Trismus-pseudocamptodactyly syndrome MONDO:0008016 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYH9 G2P01850 MYH9-related deafness MONDO:0011350 definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYH9 G2P03652 MYH9-related elastin aggregation syndrome moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYH9 G2P01498 MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MONDO:0015912 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYL1 G2P02971 MYL1-related myopathy, congenital, with fast-twitch (type II) fiber atrophy limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYL11 G2P03032 MYL11-related arthrogryposis, distal MONDO:0030847 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYL11 G2P03033 MYL11-related arthrogryposis, distal MONDO:0030847 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYL2 G2P03838 MYL2-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYL2 G2P03280 MYL2-related hypertrophic cardiomyopathy MONDO:0012112 definitive undetermined 14 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYL3 G2P03797 MYL3-related arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYL3 G2P03886 MYL3-related dilated cardiomyopathy MONDO:0016333 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYL3 G2P03281 MYL3-related hypertrophic cardiomyopathy MONDO:0012111 definitive undetermined 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYLK G2P02227 MYLK-related megacystis microcolon intestinal hypoperistalsis syndrome MONDO:0100354 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYLK2 G2P03855 MYLK2-related hypertrophic cardiomyopathy MONDO:0024573 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYO15A G2P00565 MYO15A-related deafness MONDO:0010860 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYO18B G2P02979 MYO18B-related Klippel-Feil syndrome with nemaline myopathy and facial dysmorphism MONDO:0014689 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYO5A G2P01502 MYO5A-related Griscelli syndrome MONDO:0008962 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYO5B G2P00917 MYO5B-related microvillus inclusion disease MONDO:0009635 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYO6 G2P03582 MYO6-related nonsyndromic genetic hearing loss definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYO6 G2P03583 MYO6-related nonsyndromic genetic hearing loss definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYO6 G2P03446 MYO6-related nonsyndromic genetic hearing loss with left ventricular hypertrophy MONDO:0019497 moderate undetermined 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYO6 G2P03449 MYO6-related nonsyndromic genetic hearing loss with left ventricular hypertrophy MONDO:0019497 moderate undetermined 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYO7A G2P00237 MYO7A-related deafness MONDO:0010807 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYO7A G2P02173 MYO7A-related Usher syndrome definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYOCD G2P02753 MYOCD-related congenital megabladder strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYOM1 G2P03856 MYOM1-related hypertrophic cardiomyopathy MONDO:0024573 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYOZ2 G2P03857 MYOZ2-related hypertrophic cardiomyopathy MONDO:0024573 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYPN G2P01907 MYPN-related childhood-onset, slowly progressive nemaline myopathy MONDO:0015023 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYPN G2P03839 MYPN-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYPN G2P03858 MYPN-related hypertrophic cardiomyopathy MONDO:0024573 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYRF G2P02657 MYRF-related high hyperopia MONDO:0004891 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYRF G2P02797 MYRF-related pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart, and scimitar syndrome MONDO:0032653 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYSM1 G2P03111 MYSM1-related congenital bone marrow failure MONDO:0020856 limited loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYT1 G2P01774 MYT1-related oculo-auriculo-vertebral spectrum (OAVS) (Goldenhar syndrome) MONDO:0015397 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. MYT1L G2P01707 MYT1L-related intellectual developmental syndrome MONDO:0014678 definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NAA15 G2P01381 NAA15-related congenital heart disease and neurodevelopmental disorder MONDO:0030916 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NAA20 G2P03179 NAA20-related developmental delay and microcephaly MONDO:0030533 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NACC1 G2P02250 NACC1-related infantile epilepsy, cataracts, and profound developmental delay MONDO:0044306 definitive gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NADK2 G2P02387 NADK2-related dienoyl-CoA reductase deficiency with hyperlysinemia limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NADSYN1 G2P02920 NADSYN1-related congenital NAD deficiency disorder MONDO:0030077 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NAE1 G2P03425 NAE1-related neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia, and neurodegeneration MONDO:0859361 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NAGA G2P00058 NAGA-related Kanzaki disease definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NAGLU G2P00860 NAGLU-related mucopolysaccharidosis MONDO:0009656 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NALCN G2P00098 NALCN-related congenital contractures of the limbs and face, hypotonia, and developmental delay MONDO:0014556 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NALCN G2P00132 NALCN-related hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0024567 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NALCN G2P03553 NALCN-related temporal lobe epilepsy MONDO:0005115 limited undetermined non-loss-of-function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NANS G2P01791 NANS-related infantile-onset severe developmental delay and skeletal dysplasia MONDO:0012495 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NAPB G2P03061 NAPB-related neurodevelopmental disorder MONDO:0031055 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NARS1 G2P03030 NARS1-related neurodevelopmental disorder MONDO:0100038 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NARS1 G2P03031 NARS1-related neurodevelopmental disorder MONDO:0100038 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NARS2 G2P03183 NARS2-related oxidative phosphorylation deficiency MONDO:0014547 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NAXD G2P02579 NAXD-related neurodegenerative disorder exacerbated by febrile illnesses MONDO:0034121 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NAXE G2P01881 NAXE-related lethal neurometabolic disorder of early childhood MONDO:0020781 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NBAS G2P02793 NBAS-related short stature, optic nerve atrophy, Pelger-Huet anomaly and/or infantile liver failure MONDO:0013889 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NBEA G2P02650 NBEA-related neurodevelopment disorder with seizures MONDO:0030930 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NBN G2P01346 NBN-related Nijmegen breakage syndrome MONDO:0009623 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NCAPD2 G2P01780 NCAPD2-related microcephaly with short stature limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NCAPD3 G2P01781 NCAPD3-related microcephaly with short stature limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NCAPG2 G2P02637 NCAPG2-related severe neurodevelopmental syndrome MONDO:0032764 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NCAPH G2P01782 NCAPH-related microcephaly MONDO:0054806 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NCDN G2P03115 NCDN-related neurodevelopmental disorder with seizures (biallelic) MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NCDN G2P03116 NCDN-related neurodevelopmental disorder with seizures (monoallelic) MONDO:0859162 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NCF1 G2P02466 NCF1-related chronic granulomatous disease cytochrome b positive definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NCF2 G2P02467 NCF2-related chronic granulomatous disease cytochrome b positive type II definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NCKAP1 G2P03062 NCKAP1-related neurodevelopmental disorder MONDO:0700092 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NCOR1 G2P02829 NCOR1-related developmental disorder MONDO:0700092 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDE1 G2P01072 NDE1-related lissencephaly MONDO:0013527 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDNF G2P02917 NDNF-related congenital hypogonadotrophic hypogonadism MONDO:0030010 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDP G2P01914 NDP-related exudative vitreoretinopathy MONDO:0010588 definitive undetermined 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDP G2P00209 NDP-related Norrie disease MONDO:0010691 definitive loss of function 15 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDRG4 G2P02393 NDRG4-related achromatopsia MONDO:0018852 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDST1 G2P00677 NDST1-related intellectual disability with or without seizures moderate undetermined 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFA1 G2P01625 NDUFA1-related mitochondrial respiratory chain complex I deficiency MONDO:0026720 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFA10 G2P01697 NDUFA10-related Leigh syndrome MONDO:0032626 strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFA12 G2P03160 NDUFA12-related mitochondrial complex I deficiency MONDO:0032627 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFA6 G2P02620 NDUFA6-related early onset isolated mitochondrial complex I deficiency MONDO:0032636 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFA8 G2P03036 NDUFA8-related developmental disorder MONDO:0030997 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFA9 G2P01698 NDUFA9-related Leigh syndrome MONDO:0009723 limited undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFAF2 G2P01022 NDUFAF2-related Leigh syndrome MONDO:0009723 strong loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFAF8 G2P02918 NDUFAF8-related Leigh syndrome MONDO:0032910 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFB11 G2P03900 NDUFB11-related mitochondrial complex I deficiency MONDO:1040023 strong loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFB3 G2P03140 NDUFB3-related mitochondrial complex I deficiency MONDO:0032629 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFB7 G2P03119 NDUFB7-related lactic acidosis and hypertrophic cardiomyopathy MONDO:0859320 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFB8 G2P02596 NDUFB8-related mitochondrial complex I deficiency MONDO:0032635 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFS1 G2P01451 NDUFS1-related mitochondrial complex I deficiency MONDO:0032610 definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFS2 G2P02000 NDUFS2-related mitochondrial complex I deficiency MONDO:0032611 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFS2 G2P01999 NDUFS2-related non-syndromic hereditary optic neuropathy strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFS4 G2P01153 NDUFS4-related Leigh syndrome MONDO:0009723 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFS7 G2P00892 NDUFS7-related mitochondrial respiratory chain complex I deficiency MONDO:0032608 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFS8 G2P00224 NDUFS8-related mitochondrial respiratory chain complex I deficiency MONDO:0032606 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFV1 G2P00512 NDUFV1-related mitochondrial complex I deficiency MONDO:0032609 definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NDUFV2 G2P03314 NDUFV2-related mitochondrial complex I deficiency, nuclear MONDO:0032612 moderate undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NEBL G2P03841 NEBL-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NECTIN1 G2P00826 NECTIN1-related cleft lip/palate-ectodermal dysplasia syndrome MONDO:0009151 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NECTIN4 G2P00558 NECTIN4-related ectodermal dysplasia-syndactyly syndrome MONDO:0024565 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NEDD4L G2P00563 NEDD4L-related periventricular nodular heterotopia with intellectual disability, cleft palate, and 2-3 toe syndactyly MONDO:0014966 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NEK1 G2P01395 NEK1-related short rib-polydactyly syndrome MONDO:0009894 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NEK2 G2P02175 NEK2-related retinitis pigmentosa MONDO:0014256 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NEU1 G2P00573 NEU1-related sialidosis definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NEXN G2P03859 NEXN-related hypertrophic cardiomyopathy MONDO:0024573 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NFIA G2P00569 NFIA-related macrocephaly with intellectual disability MONDO:0100478 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NFIB G2P02628 NFIB-related macrocephaly, acquired, with impaired intellectual development MONDO:0032658 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NFIX G2P01486 NFIX-related Marshall-Smith syndrome MONDO:0011244 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NFU1 G2P00303 NFU1-related multiple mitochondrial dysfunctions syndrome MONDO:0011582 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NGLY1 G2P00877 NGLY1-related congenital disorder of deglycosylation MONDO:0800044 definitive loss of function 18 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NHLRC2 G2P03215 NHLRC2-related fibrosis, neurodegeneration, and cerebral angiomatosis MONDO:0032651 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NHP2 G2P01207 NHP2-related dyskeratosis congenita MONDO:0009136 moderate loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NHS G2P00873 NHS-related Nance-Horan syndrome MONDO:0010545 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NIPAL4 G2P02720 NIPAL4-related ichthyosis, congenital MONDO:0012847 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NIPBL G2P00832 NIPBL-related Cornelia de Lange syndrome MONDO:0007387 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NKAP G2P02830 NKAP-related marfanoid habitus and cognitive impairment MONDO:0026733 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NKX2-1 G2P01475 NKX2-1-related choreoathetosis, hypothyroidism, and neonatal respiratory distress definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NKX3-2 G2P00297 NKX3-2-related spondylo-megaepiphyseal-metaphyseal dysplasia MONDO:0013228 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NKX6-2 G2P02228 NKX6-2-related progressive spastic ataxia and hypomyelination MONDO:0033043 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NLGN3 G2P00993 NLGN3-related autism spectrum disorders MONDO:0010321 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NLGN4X G2P00978 NLGN4X-related autism and intellectual disability MONDO:0010341 strong loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NLRP2 G2P02698 NLRP2-related Nijmegan breakage syndrome definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NMNAT1 G2P00980 NMNAT1-related Leber congenital amaurosis MONDO:0012056 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NODAL G2P01469 NODAL-related heterotaxy syndrome MONDO:0700112 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NOG G2P01091 NOG-related-symphalangism spectrum disorder MONDO:0008519 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NONO G2P01759 NONO-related syndromic intellectual disability MONDO:0010501 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NOP10 G2P00165 NOP10-related dyskeratosis congenita MONDO:0009136 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NOTCH2 G2P02177 NOTCH2-related Alagille syndrome strong undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NOTCH2 G2P00865 NOTCH2-related Hajdu-Cheney syndrome MONDO:0007057 definitive gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NOVA2 G2P02446 NOVA2-related neurodevelopmental disorder MONDO:0030024 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NPAT G2P03538 NPAT-related cancer moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NPHS1 G2P00054 NPHS1-related nephrotic syndrome definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NPHS2 G2P00352 NPHS2-related nephrotic syndrome MONDO:0010974 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NPR2 G2P00244 NPR2-related acromesomelic dysplasia Maroteaux type MONDO:0011275 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NPR3 G2P02613 NPR3-related enhanced growth and connective tissue abnormalities MONDO:0859194 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NPRL2 G2P03577 NPRL2-related familial focal epilepsy with or without focal cortical dysplasia MONDO:0014924 strong loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NPRL3 G2P03578 NPRL3-related familial focal epilepsy with or without focal cortical dysplasia MONDO:0014925 strong loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NR0B1 G2P02452 NR0B1-related adrenal hypoplasia, congenital definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NR1I3 G2P00508 NR1I3-related intellectual disability MONDO:0001071 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NR2E3 G2P01993 NR2E3-related enhanced S-cone syndrome MONDO:0100288 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NR2E3 G2P01994 NR2E3-related retinitis pigmentosa MONDO:0012625 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NR2F1 G2P00270 NR2F1-related Bosch-Boonstra-Schaaf optic atrophy syndrome MONDO:0014320 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NR2F2 G2P00262 NR2F2-related congenital heart defects and 46XX sex reversal MONDO:0030049 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NR4A2 G2P02861 NR4A2-related developmental disorder MONDO:0700092 strong loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NRCAM G2P03246 NRCAM-related neurodevelopmental disorder with dysmorphic features, hypotonia, and spasticity MONDO:0859236 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NRDC G2P03925 NRDC-related neurodevelopmental disorder with microcephaly and brain abnormalities MONDO:0100038 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NRL G2P01996 NRL-related retinal degeneration clumped pigment type MONDO:0013402 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NRL G2P01995 NRL-related retinitis pigmentosa MONDO:0013402 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NRROS G2P02946 NRROS-related infantile-onset neurodegeneration with intracranial calcification MONDO:0030033 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NRXN1 G2P00636 NRXN1-related autism MONDO:0005260 moderate loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NRXN1 G2P00971 NRXN1-related Pitt Hopkins-like syndrome MONDO:0013690 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NRXN2 G2P00534 NRXN2-related autism MONDO:0005260 limited loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NRXN3 G2P00603 NRXN3-related autism MONDO:0005260 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NSD1 G2P02321 NSD1-related Beckwith-Wiedemann syndrome MONDO:0016547 definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NSD1 G2P01583 NSD1-related Sotos syndrome MONDO:0019349 definitive loss of function 25 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NSD2 G2P02862 NSD2-related developmental disorder MONDO:0859219 strong loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NSDHL G2P00065 NSDHL-related CK syndrome MONDO:0010441 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NSDHL G2P01006 NSDHL-related congenital hemidysplasia with ichthyosiform erythroderma and limb defects MONDO:0010621 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NSMCE3 G2P01140 NSMCE3-related distinct DNA breakage syndrome limited undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NSRP1 G2P03181 NSRP1-related developmental delay, epilepsy, and microcephaly MONDO:0859275 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NSUN2 G2P00298 NSUN2-related intellectual disability MONDO:0012613 strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NSUN6 G2P03765 NSUN6-related neurodevelopmental disorder limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NT5C3A G2P00060 NT5C3A-related hemolytic anemia definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NTHL1 G2P01844 NTHL1-related adenomatous polyposis, colorectal cancer, breast cancer and other tumours definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NTNG2 G2P02837 NTNG2-related developmental delay, hypotonia, and autistic features MONDO:0032878 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NUBPL G2P01497 NUBPL-related mitochondrial complex I deficiency MONDO:0032625 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NUDCD2 G2P03740 NUDCD2-related brain and cardiac malformations with cholestasis and renal failure limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NUDT2 G2P03057 NUDT2-related developmental disorder MONDO:0859240 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NUP107 G2P02817 NUP107-related steroid resistant nephrotic syndrome with microcephaly, developmental delay and simplified gyration (Galloway-Mowat syndrome) MONDO:0032692 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NUP133 G2P02816 NUP133-related Galloway-Mowat syndrome MONDO:0032693 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NUP188 G2P02569 NUP188-related neurodegeneration, cataracts and facial dysmorphisms MONDO:0032926 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NUP214 G2P02764 NUP214-related acute febrile encephalopathy MONDO:0032742 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NUP54 G2P03415 NUP54-related early-onset dystonia with striatal lesions moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NUP62 G2P00243 NUP62-related infantile striatonigral degeneration strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NUS1 G2P02375 NUS1-related epilepsy and intellectual disability MONDO:0030921 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. NYX G2P00471 NYX-related congenital stationary night blindness MONDO:0010690 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OAT G2P02181 OAT-related gyrate atrophy of choroid and retina with or without ornithinemia definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OBSCN G2P03843 OBSCN-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OBSCN G2P03879 OBSCN-related hypertrophic cardiomyopathy MONDO:0024573 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OBSL1 G2P00848 OBSL1-related 3-M syndrome MONDO:0013039 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OCA2 G2P02182 OCA2-related oculocutaneous albinism MONDO:0018910 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OCLN G2P02950 OCLN-related band-like calcification with simplified gyration and polymicrogyria MONDO:0020789 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OCRL G2P00351 OCRL-related Dent Disease MONDO:0010359 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OCRL G2P00240 OCRL-related Lowe oculocerebrorenal syndrome MONDO:0010645 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ODAD2 G2P00883 ODAD2-related primary ciliary dyskinesia MONDO:0014193 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ODAD3 G2P00758 ODAD3-related primary cillary dyskineasia MONDO:0014465 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ODAD4 G2P01869 ODAD4-related primary ciliary dyskinesia with left-right body asymmetry randomization MONDO:0014910 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ODAPH G2P01445 ODAPH-related amyelogenesis imperfecta MONDO:0013906 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ODC1 G2P02888 ODC1-related neurodevelopmental disorder MONDO:0033642 strong gain of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OGDH G2P03200 OGDH-related neurodevelopmental disorder MONDO:0008759 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OGDHL G2P03233 OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OGT G2P02863 OGT-related developmental disorder (hemizygous) MONDO:0030907 strong loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OGT G2P02864 OGT-related developmental disorder (heterozygous) MONDO:0030907 strong loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ONECUT1 G2P03207 ONECUT1-related neonatal diabetes MONDO:0016391 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OPA1 G2P02408 OPA1-related Behr syndrome MONDO:0008858 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OPA1 G2P01937 OPA1-related optic atrophy MONDO:0003608 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OPA1 G2P02407 OPA1-related optic atrophy plus syndrome MONDO:0007429 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OPA3 G2P02019 OPA3-related 3-methylglutaconic aciduria, type III MONDO:0009787 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OPA3 G2P02018 OPA3-related optic atrophy with cataract MONDO:0008133 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OPHN1 G2P00489 OPHN1-related intellectual developmental disorder MONDO:0010337 definitive loss of function 13 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OPN1LW G2P02184 OPN1LW-related blue cone monochromacy MONDO:0010563 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OPN1MW G2P02185 OPN1MW-related blue cone monochromacy MONDO:0010563 definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ORC1 G2P00419 ORC1-related Meier-Gorlin syndrome MONDO:0009143 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ORC4 G2P00561 ORC4-related Meier-Gorlin syndrome MONDO:0013428 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ORC6 G2P01516 ORC6-related Meier-Gorlin syndrome MONDO:0013430 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OSGEP G2P02386 OSGEP-related nephrotic syndrome with primary microcephaly MONDO:0033007 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OTOA G2P00226 OTOA-related deafness MONDO:0011762 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OTOF G2P00090 OTOF-related deafness MONDO:0010986 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OTOGL G2P00521 OTOGL-related moderate sensorineural hearing loss MONDO:0013984 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OTUD5 G2P03438 OTUD5-related neurodevelopmental disorder MONDO:0025351 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OTUD6B G2P02239 OTUD6B-related intellectual disability syndrome associated with seizures and dysmorphic features MONDO:0044319 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OTUD7A G2P02447 OTUD7A-related 15q13.3 deletions phenocopy limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OTULIN G2P01788 OTULIN-related autoinflammatory syndrome MONDO:0014912 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OTX2 G2P01003 OTX2-related syndromic microphthalmia MONDO:0012413 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OVOL2 G2P02186 OVOL2-related corneal dystrophy, posterior polymorphous MONDO:0007378 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OXCT1 G2P00434 OXCT1-related succinyl CoA:3-oxoacid CoA transferase deficiency MONDO:0009492 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. OXR1 G2P02911 OXR1-related neurological disease with cerebellar atrophy and lysosomal dysfunction MONDO:0008939 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. P3H1 G2P01125 P3H1-related osteogenesis imperfecta MONDO:0012581 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. P3H2 G2P02156 P3H2-related myopia, high, with cataract and vitreoretinal degeneration MONDO:0013670 strong loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. P4HA2 G2P02584 P4HA2-related myopia MONDO:0001384 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. P4HB G2P00895 P4HB-related Cole-Carpenter syndrome MONDO:0007204 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PABPC1 G2P03484 PABPC1-related developmental delay limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PACS1 G2P01432 PACS1-related intellectual disability MONDO:0014006 definitive gain of function 17 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PACS2 G2P02368 PACS2-related neurodevelopmental disorder MONDO:0054845 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PACSIN3 G2P03786 PACSIN3-related childhood-onset myopathy with hyperCKaemia moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PADI3 G2P03678 PADI3-related uncombable hair syndrome MONDO:0020736 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PAFAH1B1 G2P00020 PAFAH1B1-related lissencephaly definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PAK1 G2P02624 PAK1-related neurodevelopmental disorder MONDO:0032568 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PAK3 G2P01117 PAK3-related agenesis of the corpus callosum MONDO:0009022 definitive gain of function 16 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PAK3 G2P01557 PAK3-related intellectual developmental disorder MONDO:0010361 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PAN2 G2P03326 PAN2-related neurodevelopmental disorder with multiple congenital anomalies moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PANK2 G2P02187 PANK2-related HARP syndrome MONDO:0009319 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PANK4 G2P02655 PANK4-related congenital cataract MONDO:0005129 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PAPSS2 G2P01094 PAPSS2-related spondyloepimetaphyseal dysplasia, Pakistani type definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PARN G2P03387 PARN-related dyskeratosis congenita MONDO:0014600 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PARP1 G2P00254 PARP1-related intellectual developmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PARS2 G2P03749 PARS2-related developmental and epileptic encephalopathy with or without cardiomyopathy MONDO:0032752 definitive undetermined 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PAX1 G2P03541 PAX1-related oculo-auriculo-vertebral syndrome limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PAX1 G2P03178 PAX1-related otofaciocervical syndrome MONDO:0014254 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PAX2 G2P00011 PAX2-related papillorenal syndrome MONDO:0007352 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PAX3 G2P01854 PAX3-related craniofacial-deafness-hand syndrome MONDO:0007395 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PAX3 G2P03379 PAX3-related Waardenburg syndrome (biallelic) MONDO:0008670 moderate undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PAX3 G2P00577 PAX3-related Waardenburg syndrome (monoallelic) MONDO:0008670 definitive loss of function 23 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PAX6 G2P01555 PAX6-related aniridia MONDO:0024507 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PAX6 G2P00867 PAX6-related Peters anomaly MONDO:0011414 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PAX8 G2P01258 PAX8-related congenital hypothyroidism non-goitrous MONDO:0024264 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PAX9 G2P00278 PAX9-related tooth agenesis, selective MONDO:0011477 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PBX1 G2P02865 PBX1-related developmental disorder MONDO:0060549 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PC G2P00473 PC-related pyruvate carboxylase deficiency MONDO:0009949 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PCARE G2P00834 PCARE-related retinitis pigmentosa MONDO:0013263 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PCBD1 G2P00377 PCBD1-related hyperphenylalaninemia, BH4-deficient, D MONDO:0009908 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PCBP2 G2P02889 PCBP2-related developmental disorder limited loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PCDH12 G2P02999 PCDH12-related diencephalic-mesencephalic junction dysplasia syndrome MONDO:0009625 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PCDH15 G2P02188 PCDH15-related Usher syndrome MONDO:0011186 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PCDH19 G2P01036 PCDH19-related epileptic encephalopathy early infantile MONDO:0010246 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PCDHGC4 G2P03229 PCDHGC4-related neurodevelopmental disorder with microcephaly and seizures MONDO:0859252 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PCGF2 G2P00869 PCGF2-related craniofacial neurological cardiovascular and skeletal features (Turnpenny-Fry syndrome) MONDO:0032707 strong gain of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PCNT G2P00147 PCNT-related microcephalic osteodysplastic primordial dwarfism MONDO:0008872 definitive loss of function 18 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PCYT1A G2P01313 PCYT1A-related spondylometaphyseal dysplasia with cone-rod dystrophy MONDO:0012160 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PCYT2 G2P02550 PCYT2-related complex hereditary spastic paraplegia MONDO:0032906 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDCD10 G2P00406 PDCD10-related cerebral cavernous malformations MONDO:0011305 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDE10A G2P01729 PDE10A-related childhood-onset chorea with bilateral striatal lesions MONDO:0014835 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDE4D G2P01260 PDE4D-related acrodysostosis MONDO:0013822 definitive gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDE6A G2P02189 PDE6A-related retinitis pigmentosa MONDO:0013437 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDE6B G2P02190 PDE6B-related night blindness, congenital stationary MONDO:0008099 strong gain of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDE6B G2P02191 PDE6B-related retinitis pigmentosa MONDO:0013429 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDE6C G2P02192 PDE6C-related cone dystrophy MONDO:0013129 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDE6D G2P02354 PDE6D-related Joubert syndrome MONDO:0014297 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDE6G G2P00095 PDE6G-related retinitis pigmentosa MONDO:0013315 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDE6H G2P01353 PDE6H-related achromatopsia MONDO:0018852 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDE6H G2P01429 PDE6H-related retinal cone dystrophy MONDO:0012398 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDGFRB G2P01582 PDGFRB-related familial infantile myofibromatosis MONDO:0009227 definitive gain of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDGFRB G2P03692 PDGFRB-related hereditary progressive mucinous histiocytosis MONDO:0007725 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDGFRB G2P03011 PDGFRB-related Kosaki overgrowth syndrome MONDO:0014704 definitive gain of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDGFRB G2P01679 PDGFRB-related premature aging syndrome, Penttinen type MONDO:0011150 definitive gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDHA1 G2P01518 PDHA1-related intellectual disability MONDO:0010717 definitive loss of function 14 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDHA1 G2P00684 PDHA1-related pyruvate dehydrogenase E1-alpha deficiency MONDO:0010717 definitive loss of function 41 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDHX G2P00862 PDHX-related lacticacidemia due to PDX1 deficiency MONDO:0009503 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDIA6 G2P03163 PDIA6-related syndromic neonatal diabetes and asphyxiating thoracic dystrophy limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDLIM3 G2P03888 PDLIM3-related dilated cardiomyopathy MONDO:0016333 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDLIM3 G2P03860 PDLIM3-related hypertrophic cardiomyopathy MONDO:0024573 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDSS1 G2P00213 PDSS1-related coenzyme Q10 deficiency, primary strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDSS2 G2P00437 PDSS2-related coenzyme Q10 deficiency, primary MONDO:0013838 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PDZD7 G2P01951 PDZD7-related Usher syndrome, GPR98/PDZD7 digenic strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PECR G2P00315 PECR-related intellectual developmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PEPD G2P00876 PEPD-related prolidase deficiency MONDO:0008221 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PERP G2P03650 PERP-related erythrokeratodermia variabilis et progressiva MONDO:0030941 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PERP G2P03649 PERP-related Olmsted syndrome MONDO:0030961 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PET100 G2P00245 PET100-related mitochondrial complex IV deficiency MONDO:0033646 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PEX11B G2P02201 PEX11B-related peroxisome biogenesis disorder 14B MONDO:0013967 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PEX14 G2P02204 PEX14-related peroxisome biogenesis disorder 13A (Zellweger) (biallelic) definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PEX14 G2P03530 PEX14-related peroxisome biogenesis disorder 13A (Zellweger) (monoallelic) limited dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PEX14 G2P01056 PEX14-related peroxisome biogenesis disorder complementation group K MONDO:0013952 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PEX16 G2P00299 PEX16-related peroxisome biogenesis disorder 8A (Zellweger) MONDO:0013942 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PEX16 G2P02205 PEX16-related peroxisome biogenesis disorder 8B MONDO:0013943 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PEX19 G2P00540 PEX19-related peroxisome biogenesis disorder MONDO:0100270 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PEX3 G2P00726 PEX3-related peroxisome biogenesis disorder MONDO:0013948 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PEX3 G2P02208 PEX3-related peroxisome biogenesis disorder 10B MONDO:0054549 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PGAP1 G2P02438 PGAP1-related intellectual disability, encephalopathy, impaired GPI-anchor maturation MONDO:0014348 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PGAP2 G2P00290 PGAP2-related intellectual disability MONDO:0013628 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PGAP3 G2P01536 PGAP3-related hyperphosphatasia with intellectual developmental disorder syndrome MONDO:0014318 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PGK1 G2P00904 PGK1-related phosphoglycerate kinase 1 deficiency MONDO:0010392 definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PGM1 G2P01394 PGM1-related congenital disorder of glycosylation MONDO:0013968 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PGM2L1 G2P03156 PGM2L1-related neurodevelopmental disorder MONDO:0859347 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PGM3 G2P01552 PGM3-related immunodeficiency MONDO:0014353 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PHACTR1 G2P02585 PHACTR1-related neurodevelopment disorder MONDO:0032663 strong dominant negative 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PHC1 G2P00227 PHC1-related primary microcephaly MONDO:0014173 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PHEX G2P03769 PHEX-related hypophosphatemic rickets MONDO:0010619 definitive loss of function 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PHF12 G2P02890 PHF12-related developmental disorder MONDO:0700092 strong loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PHF21A G2P00382 PHF21A-related Potocki-Shaffer syndrome MONDO:0011022 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PHF5A G2P03487 PHF5A-related neurodevelopmental disorder with congenital malformations MONDO:0100038 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PHF6 G2P00957 PHF6-related Boerjeson-Forssman-Lehmann syndrome MONDO:0010537 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PHF8 G2P01410 PHF8-related syndromic intellectual developmental disorder, Siderius type MONDO:0010286 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PHGDH G2P03619 PHGDH-related Neu-Laxova syndrome MONDO:0009736 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PHGDH G2P01248 PHGDH-related phosphoglycerate dehydrogenase deficiency MONDO:0011152 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PHIP G2P01103 PHIP-related developmental delay, intellectual disability, obesity, and dysmorphic features MONDO:0035133 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PHOX2A G2P01940 PHOX2A-related fibrosis of extraocular muscles, congenital MONDO:0011181 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PHYH G2P02212 PHYH-related Refsum disease definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PI4K2A G2P03661 PI4K2A-related metabolic cutis laxa limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PI4KA G2P03134 PI4KA-related polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIBF1 G2P03000 PIBF1-related Joubert syndrome MONDO:0033311 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIDD1 G2P03093 PIDD1-related neurodevelopmental disorder MONDO:0030785 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIEZO1 G2P01786 PIEZO1-related congenital lymphatic dysplasia with hydrops and/or lymphoedema MONDO:0014797 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIEZO2 G2P01602 PIEZO2-related arthrogryposis, distal definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIEZO2 G2P01849 PIEZO2-related ataxia, dysmetria, contractures and scoliosis with normal cognition but loss of discriminative touch perception MONDO:0014941 definitive loss of function 12 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIGA G2P00831 PIGA-related multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0010466 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIGB G2P02754 PIGB-related inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality MONDO:0032822 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIGG G2P01726 PIGG-related intellectual disability with seizures and hypotonia MONDO:0014832 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIGH G2P02952 PIGH-related glycosylphosphatidylinositol biosynthesis defect MONDO:0060724 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIGK G2P02944 PIGK-related neurodevelopmental syndrome MONDO:0030037 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIGM G2P02424 PIGM-related glycosylphosphatidylinositol deficiency MONDO:0012465 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIGN G2P01414 PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0013563 definitive loss of function 18 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIGO G2P00039 PIGO-related hyperphosphatasia with intellectual developmental disorder syndrome definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIGP G2P03464 PIGP-related multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0100247 moderate undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIGQ G2P00389 PIGQ-related severe early-onset epilepsy MONDO:0032808 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIGS G2P02621 PIGS-related neurological syndrome fetal akinesia/epileptic encephalopathy MONDO:0029140 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIGT G2P01110 PIGT-related multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0014165 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIGU G2P02761 PIGU-related intellectual disability, central nervous system anomalies and scoliosis MONDO:0032824 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIGV G2P00078 PIGV-related hyperphosphatasia with intellectual developmental disorder MONDO:0009398 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIGW G2P01699 PIGW-related hyperphosphatasia with intellectual developmental disorder limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIGY G2P01784 PIGY-related glycosylphosphatidylinositol deficiency MONDO:0014780 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIK3R1 G2P00858 PIK3R1-related agammaglobulinemia MONDO:0014083 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIK3R1 G2P00179 PIK3R1-related SHORT syndrome MONDO:0010026 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIK3R2 G2P00768 PIK3R2-related megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome MONDO:0011313 definitive gain of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIKFYVE G2P01932 PIKFYVE-related fleck corneal dystrophy MONDO:0007376 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIP5K1C G2P00274 PIP5K1C-related lethal congenital contracture syndrome MONDO:0012656 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PIP5K1C G2P03467 PIP5K1C-related neurodevelopmental disorder MONDO:0700092 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PISD G2P02565 PISD-related spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function MONDO:0030045 limited loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PITPNM3 G2P02213 PITPNM3-related cone-rod dystrophy MONDO:0010969 limited undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PITX1 G2P01332 PITX1-related congenital clubfoot MONDO:0007342 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PITX1 G2P01169 PITX1-related homeotic arm-to-leg transformation associated with genomic rearrangements at the locus strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PITX3 G2P00863 PITX3-related cataract with or without ocular developmental defects MONDO:0007138 definitive loss of function 15 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PJVK G2P00417 PJVK-related deafness MONDO:0012445 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PKD1L1 G2P01775 PKD1L1-related laterality defects MONDO:0014967 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PKDCC G2P03757 PKDCC-related rhizomelic limb shortening with dysmorphic features and short stature MONDO:0032935 moderate loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PKHD1 G2P00525 PKHD1-related polycystic kidney disease MONDO:0033004 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PKP1 G2P02477 PKP1-related ectodermal dysplasia and skin fragility (McGrath syndrome) definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PKP2 G2P03253 PKP2-related arrhythmogenic right ventricular cardiomyopathy MONDO:0012180 definitive loss of function 14 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PKP2 G2P03814 PKP2-related Brugada syndrome MONDO:0015263 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PKP2 G2P03824 PKP2-related catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PKP2 G2P03887 PKP2-related dilated cardiomyopathy MONDO:0016333 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLA2G5 G2P02217 PLA2G5-related fleck retina, familial benign MONDO:0009235 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLA2G6 G2P01333 PLA2G6-related infantile neuroaxonal dystrophy MONDO:0024457 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLAA G2P02231 PLAA-related lethal infantile epileptic encephalopathy MONDO:0060502 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLAAT3 G2P03591 PLAAT3-related lipodystrophy syndrome with neurological features MONDO:0958034 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLAG1 G2P03468 PLAG1-related Silver Russell syndrome MONDO:0030118 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLCB1 G2P00059 PLCB1-related epileptic encephalopathy, early infantile MONDO:0013389 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLCB3 G2P02361 PLCB3-related spondylometaphyseal dysplasia associated with corneal dystrophy and developmental delay (SMDCD) limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLCB4 G2P00070 PLCB4-related auriculocondylar syndrome MONDO:0013845 strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLCD1 G2P03663 PLCD1-related familial multiple pilomatricomas limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLCD1 G2P03655 PLCD1-related nail disorder, nonsyndromic congenital (leukonychia) MONDO:0007900 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLCE1 G2P00972 PLCE1-related nephrotic syndrome MONDO:0012546 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLCG2 G2P00328 PLCG2-related autoinflammation, antibody deficiency, and immune dysregulation syndrome MONDO:0013944 limited undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLCG2 G2P01282 PLCG2-related familial cold autoinflammatory syndrome MONDO:0013766 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLCH1 G2P03315 PLCH1-related holoprosencephaly MONDO:0030886 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLD1 G2P03704 PLD1-related cardiac valvular dysplasia MONDO:0008913 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLEKHM2 G2P03844 PLEKHM2-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLK4 G2P00041 PLK4-related microcephaly, growth failure and retinopathy MONDO:0014516 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLN G2P03273 PLN-related intrinsic cardiomyopathy MONDO:0012362 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLOD2 G2P01186 PLOD2-related Bruck syndrome MONDO:0012217 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLOD3 G2P00325 PLOD3-related lysyl hydroxylase 3 deficiency limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLPBP G2P01900 PLPBP-related vitamin-B6-dependent epilepsy MONDO:0015005 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLS3 G2P03561 PLS3-related diaphragmatic hernia and body-wall defects moderate gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLS3 G2P03560 PLS3-related osteoporosis with fractures definitive loss of function 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLXNA1 G2P03130 PLXNA1-related neurodevelopmental disorder MONDO:0859260 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLXNA1 G2P03131 PLXNA1-related neurodevelopmental disorder with seizures MONDO:0100038 limited undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLXNB2 G2P03727 PLXNB2-related hearing loss, amelogenesis imperfecta and intellectual disability moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLXND1 G2P01509 PLXND1-related cardiac malformation syndrome MONDO:0859532 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PLXND1 G2P00327 PLXND1-related Moebius syndrome MONDO:0008006 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PMM2 G2P00536 PMM2-related congenital disorder of glycosylation MONDO:0008907 definitive loss of function 12 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PMPCB G2P02600 PMPCB-related neurodegeneration in early childhood MONDO:0054785 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PMVK G2P03623 PMVK-related porokeratosis, multiple types MONDO:0006602 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PNKP G2P01402 PNKP-related ataxia-oculomotor apraxia MONDO:0014557 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PNPLA1 G2P00829 PNPLA1-related congenital ichthyosis MONDO:0014011 strong undetermined 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PNPLA2 G2P00818 PNPLA2-related neutral lipid storage disease with myopathy MONDO:0012545 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PNPLA6 G2P02980 PNPLA6-related retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PNPLA8 G2P03575 PNPLA8-related progressive microcephaly with seizures and neurodegeneration MONDO:0016825 strong loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PNPO G2P03176 PNPO-related neonatal encephalopathy responsive to pyridoxal-5'-phosphate definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PNPT1 G2P01142 PNPT1-related hearing loss MONDO:0005365 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PNPT1 G2P00970 PNPT1-related respiratory chain disorder MONDO:0013977 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POC1A G2P01618 POC1A-related short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT syndrome) MONDO:0013894 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POC1B G2P00529 POC1B-related cone-rod dystrophy MONDO:0014427 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POFUT1 G2P03609 POFUT1-related Dowling-Degos disease MONDO:0014130 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POGLUT1 G2P03616 POGLUT1-related Dowling-Degos disease MONDO:0014307 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POGZ G2P00670 POGZ-related intellectual disability (White-Sutton syndrome) MONDO:0014606 definitive loss of function 21 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLA1 G2P02454 POLA1-related pigmentary disorder, reticulate, with systemic manifestations MONDO:0010523 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLA1 G2P02777 POLA1-related Van Esch-O'Driscoll syndrome MONDO:0015601 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLD1 G2P01843 POLD1-related polymerase proofreading-associated polyposis strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLD1 G2P00218 POLD1-related subcutaneous lipodystrophy, deafness, mandibular hypoplasia and male hypogonadism MONDO:0014157 definitive undetermined 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLE G2P02573 POLE-related IMAGE syndrome with variable immunodeficiency MONDO:0032684 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLE G2P01842 POLE-related polymerase proofreading-associated polyposis strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLG G2P02229 POLG-related mitochondrial ataxia syndrome MONDO:0011835 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLG G2P01327 POLG-related mitochondrial DNA depletion syndrome, Alpers type MONDO:0008758 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLG G2P02230 POLG-related progressive external ophthalmoplegia MONDO:0024528 definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLH G2P03376 POLH-related xeroderma pigmentosum, variant type MONDO:0010214 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLR1A G2P01613 POLR1A-related acrofacial dysostosis, Cincinnati type MONDO:0014651 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLR1C G2P02941 POLR1C-related leukodystrophy MONDO:0014666 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLR1D G2P01281 POLR1D-related Treacher Collins syndrome MONDO:0013385 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLR2A G2P03407 POLR2A-related predisposition to ependymoma limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLR2A G2P02762 POLR2A-related syndromic intellectual disability MONDO:0032829 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLR3A G2P02629 POLR3A-related Wiedemann Rautenstrauch syndrome MONDO:0009910 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLR3B G2P01059 POLR3B-related leukodystrophy, hypomyelinating with or without oligodontia and/or hypogonadotropic hypogonadism MONDO:0013722 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLR3B G2P03092 POLR3B-related neurodevelopmental disorder with or without seizures, ataxia, spasticity, and demyelinating neuropathy MONDO:0700092 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POLR3GL G2P02925 POLR3GL-related endosteal hyperostosis and oligodontia limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POMP G2P01501 POMP-related keratosis linearis with ichthyosis congenita and sclerosing keratoderma MONDO:0011169 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POP1 G2P03497 POP1-related anauxetic dysplasia MONDO:0054561 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PORCN G2P01378 PORCN-related focal dermal hypoplasia MONDO:0010592 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POT1 G2P01756 POT1-related Coats plus MONDO:0957264 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POU1F1 G2P01517 POU1F1-related combined pituitary hormone deficiency MONDO:0024464 definitive loss of function 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POU3F3 G2P02759 POU3F3-related intellectual disability MONDO:0032830 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. POU4F1 G2P03159 POU4F1-related ataxia, intention tremor, and hypotonia syndrome MONDO:0859158 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PPA2 G2P01771 PPA2-related sudden arrhythmic cardiac death after infectious or alcohol trigger MONDO:0014973 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PPFIA3 G2P03539 PPFIA3-related neurodevelopmental disorder MONDO:1040014 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PPFIBP1 G2P03329 PPFIBP1-related neurodevelopmental disorder MONDO:0700092 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PPIL1 G2P03069 PPIL1-related neurodegenerative pontocerebellar hypoplasia with microcephaly MONDO:0030258 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PPP1CB G2P01758 PPP1CB-related rasopathy with developmental delay, short stature, and sparse slow-growing hair MONDO:0054588 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PPP1R12A G2P02919 PPP1R12A-related holoprosencephaly spectrum and urogenital malformations MONDO:0032934 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PPP1R13L G2P03052 PPP1R13L-related dilated cardiomyopathy MONDO:0005021 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PPP1R15B G2P01779 PPP1R15B-related severe microcephaly, short stature, and intellectual disability MONDO:0014785 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PPP1R21 G2P03046 PPP1R21-related neurodevelopmental disorder MONDO:0859165 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PPP1R3F G2P03919 PPP1R3F-related neurodevelopmental disorder limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PPP2R2B G2P03733 PPP2R2B-related neurodevelopmental disorder limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PPT1 G2P02233 PPT1-related neuronal ceroid lipofuscinosis MONDO:0009744 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PQBP1 G2P01490 PQBP1-related Renpenning syndrome MONDO:0010653 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRCD G2P02235 PRCD-related retinitis pigmentosa MONDO:0012523 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRDM12 G2P01690 PRDM12-related hereditary sensory and autonomic neuropathy MONDO:0014662 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRDM13 G2P02403 PRDM13-related North Carolina macular dystrophy MONDO:0007630 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRDM13 G2P03320 PRDM13-related olivopentocerebellar hypoplasia syndrome moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRDM15 G2P03106 PRDM15-related renal and neurodevelopmental disorder limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRDM16 G2P03845 PRDM16-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRDM5 G2P02199 PRDM5-related Axenfeld-Rieger syndrome MONDO:0019187 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRDM5 G2P02198 PRDM5-related Brittle cornea syndrome MONDO:0013605 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRDM6 G2P01739 PRDM6-related isolated nonsyndromic patent ductus arteriosus MONDO:0024266 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRDX3 G2P03341 PRDX3-related cerebellar ataxia MONDO:0859245 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PREPL G2P01162 PREPL-related hypotonia-cystinuria syndrome MONDO:0011669 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRIM1 G2P03055 PRIM1-related primordial dwarfism MONDO:0859276 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRKACA G2P03063 PRKACA-related multiple congenital malformation syndrome MONDO:0030876 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRKACB G2P03064 PRKACB-related multiple congenital malformation syndrome MONDO:0030877 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRKAG2 G2P03297 PRKAG2-related cardiomyopathy MONDO:0010946 definitive undetermined 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRKAR1A G2P00346 PRKAR1A-related acrodysostosis MONDO:0007044 definitive gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRKAR1A G2P01816 PRKAR1A-related Carney complex MONDO:0008057 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRKAR1B G2P03017 PRKAR1B-related developmental disorder moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRKD1 G2P01768 PRKD1-related syndromic congenital heart defects MONDO:0044303 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRKG2 G2P03237 PRKG2-related acromesomelic dysplasia and spondylometaphyseal dysplasia MONDO:0030553 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRMT7 G2P01651 PRMT7-related pseudohypoparathyroidism-like disorder MONDO:0014944 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRMT9 G2P01462 PRMT9-related syndromic neurodevelopmental disorder with or without seizures and digital anomalies MONDO:0100038 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PROP1 G2P00910 PROP1-related combined pituitary hormone deficiency MONDO:0009878 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRORP G2P03227 PRORP-related mitochondrial disorder limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PROSER1 G2P03377 PROSER1-related developmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRPF19 G2P03536 PRPF19-related neurodevelopmental disorder MONDO:1040005 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRPF3 G2P02242 PRPF3-related retinitis pigmentosa MONDO:0011075 definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRPF31 G2P02243 PRPF31-related retinitis pigmentosa MONDO:0010828 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRPF4 G2P02244 PRPF4-related retinitis pigmentosa MONDO:0014400 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRPF6 G2P02245 PRPF6-related retinitis pigmentosa MONDO:0013516 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRPF8 G2P02866 PRPF8-related developmental disorder MONDO:0700092 moderate loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRPF8 G2P02248 PRPF8-related glaucoma MONDO:0005041 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRPF8 G2P02246 PRPF8-related retinitis pigmentosa MONDO:0010806 definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRPS1 G2P02258 PRPS1-related Arts syndrome MONDO:0010533 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRPS1 G2P00308 PRPS1-related Charcot-Marie-Tooth disease MONDO:0010699 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRPS1 G2P00938 PRPS1-related deafness MONDO:0010577 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRPS1 G2P01318 PRPS1-related phosphoribosylpyrophosphate synthetase superactivity MONDO:0010395 definitive gain of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRPS1 G2P02362 PRPS1-related retinal dystrophy definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRR12 G2P02431 PRR12-related intellectual disability and iris abnormalities MONDO:0971007 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRRT2 G2P00086 PRRT2-related neurodevelopmental and movement disorder with or without seizures MONDO:0700092 moderate loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRRT2 G2P00461 PRRT2-related paroxysmal kinesigenic dyskinesia with or without benign infantile seizures definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRRX1 G2P00249 PRRX1-related agnathia-otocephaly complex MONDO:0008740 limited dominant negative 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRRX1 G2P02581 PRRX1-related agnathia-otocephaly complex MONDO:0008740 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRRX1 G2P02554 PRRX1-related craniosynostosis MONDO:0015469 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRSS12 G2P00293 PRSS12-related intellectual developmental disorder MONDO:0009580 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRSS56 G2P01107 PRSS56-related microphthalmia MONDO:0013293 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PRUNE1 G2P01968 PRUNE1-related PEHO like condition MONDO:0060490 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PSAP G2P01598 PSAP-related atypical Krabbe disease MONDO:0012720 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PSAT1 G2P01642 PSAT1-related Neu-Laxova syndrome MONDO:0014466 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PSMB8 G2P00131 PSMB8-related Nakajo syndrome MONDO:0054698 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PSMC1 G2P03337 PSMC1-related neurodevelopmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PSMC3 G2P03496 PSMC3-related neurodevelopmental disorder MONDO:0700092 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PSMC5 G2P02898 PSMC5-related developmental disorder MONDO:0700092 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PSMD11 G2P03898 PSMD11-related neurodevelopmental disorder with or without obesity limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PSMD12 G2P01973 PSMD12-related global developmental delay, multiple malformations limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PSPH G2P01259 PSPH-related Neu-Laxova syndrome MONDO:0009736 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PSPH G2P00711 PSPH-related phosphoserine phosphatase deficiency MONDO:0013531 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PSTPIP1 G2P02746 PSTPIP1-related pyogenic sterile arthritis, pyoderma gangrenosum, and acne MONDO:0011462 definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTCH2 G2P02493 PTCH2-related Gorlin syndrome limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTCHD1 G2P00912 PTCHD1-related autism and intellectual disability MONDO:0010440 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTDSS1 G2P03416 PTDSS1-related developmental delay limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTDSS1 G2P00360 PTDSS1-related Lenz-Majewski hyperostotic dwarfism MONDO:0007892 definitive gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTF1A G2P00386 PTF1A-related diabetes mellitus, permanent neonatal, with cerebellar agenesis MONDO:0012192 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTF1A G2P01171 PTF1A-related pancreatic agenesis MONDO:0014406 definitive undetermined 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTH G2P01384 PTH-related familial isolated hypoparathyroidism MONDO:0007796 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTH1R G2P01504 PTH1R-related chondrodysplasia, Blomstrand type MONDO:0008970 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTH1R G2P00929 PTH1R-related Jansen metaphyseal chondrodysplasia MONDO:0007982 definitive gain of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTH1R G2P00767 PTH1R-related primary failure of tooth eruption MONDO:0007434 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTHLH G2P00604 PTHLH-related brachydactyly MONDO:0013244 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTHLH G2P00522 PTHLH-related clubbing with skeletal dysplasia with acroosteolysis definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTPN13 G2P03404 PTPN13 related predisposition to bone marrow failure moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTPN14 G2P00426 PTPN14-related choanal atresia and lymphedema MONDO:0013324 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTPRF G2P00357 PTPRF-related athelia MONDO:0014450 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTPRQ G2P00945 PTPRQ-related deafness MONDO:0013249 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTRH2 G2P03001 PTRH2-related neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset MONDO:8000012 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PTS G2P00647 PTS-related 6-pyruvoyltetrahydropterin synthase deficiency MONDO:0009863 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PUF60 G2P01709 PUF60-related Verheij syndrome MONDO:0014263 definitive loss of function 13 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PURA G2P00694 PURA-related intellectual disability definitive loss of function 23 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PUS1 G2P02953 PUS1-related myopathy, lactic acidosis, and sideroblastic anemia MONDO:0024553 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PUS3 G2P03184 PUS3-related neurodevelopmental disorder with microcephaly and gray sclerae MONDO:0014886 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PUS7 G2P02633 PUS7-related intellectual disability with speech delay, microcephaly, short stature, and aggressive behavior MONDO:0032687 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PXDN G2P00127 PXDN-related anterior segment dysgenesis with sclerocornea MONDO:0010015 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PYCR1 G2P00160 PYCR1-related cutis laxa MONDO:0013051 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PYCR1 G2P03597 PYCR1-related cutis laxa (de Barsy syndrome) MONDO:0013755 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PYCR2 G2P01573 PYCR2-related postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume MONDO:0014632 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PYGL G2P00155 PYGL-related glycogen storage disease MONDO:0009294 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. PYROXD1 G2P01896 PYROXD1-related early-onset myopathy with internalised nuclei and myofibrillar disorganization MONDO:0014993 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. QARS1 G2P00574 QARS1-related microcephaly, progressive, seizures, and cerebral and cerebellar atrophy MONDO:0014335 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. QDPR G2P00737 QDPR-related hyperphenylalaninemia, BH4-deficient, C MONDO:0009862 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. QKI G2P00422 QKI-related intellectual disability MONDO:0001071 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. QRICH1 G2P01710 QRICH1-related syndrome MONDO:0060707 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAB11A G2P02376 RAB11A-related epilepsy and intellectual disability MONDO:0700092 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAB11B G2P01972 RAB11B-related intellectual disability MONDO:0060624 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAB14 G2P02880 RAB14-related developmental disorder MONDO:0700092 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAB18 G2P01591 RAB18-related Warburg micro syndrome MONDO:0013638 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAB1A G2P03592 RAB1A-related neurodevelopmental disorder with speech and motor delay and spasticity MONDO:0100038 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAB23 G2P01322 RAB23-related acrocephalopolysyndactyly MONDO:0008710 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAB27A G2P02494 RAB27A-related Griscelli syndrome definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAB28 G2P02259 RAB28-related cone-rod dystrophy MONDO:0014153 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAB34 G2P03529 RAB34-related orofaciodigital syndrome MONDO:0958230 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAB39B G2P00853 RAB39B-related intellectual developmental disorder with or without Parkinsons MONDO:0010289 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAB3GAP1 G2P01481 RAB3GAP1-related Warburg micro syndrome MONDO:0010822 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAB3GAP2 G2P01216 RAB3GAP2-related Martsolf syndrome MONDO:8000008 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAB5C G2P03780 RAB5C-related neurodevelopmental disorder MONDO:0700092 moderate dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RABGAP1 G2P03481 RABGAP1-related neurodevelopmental disorder with microcephaly and sensorineural hearing loss MONDO:0100038 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RABL6 G2P00176 RABL6-related intellectual developmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAC1 G2P02367 RAC1-related neurodevelopmental disorder MONDO:0030913 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAC3 G2P02570 RAC3-related neurodevelopment disorder MONDO:0032820 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAD21 G2P00367 RAD21-related cohesinopathy MONDO:0013864 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAD50 G2P01568 RAD50-related Nijmegen breakage syndrome-like disorder MONDO:0013118 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAD51D G2P03390 RAD51D related cancer definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAG1 G2P02699 RAG1-related Omenn syndrome MONDO:0011338 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAG2 G2P02700 RAG2-related Omenn syndrome MONDO:0011338 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAI1 G2P00752 RAI1-related Smith-Magenis syndrome MONDO:0008434 definitive loss of function 15 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RALA G2P02934 RALA-related neurodevelopmental syndrome MONDO:0859142 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RALGAPA1 G2P02930 RALGAPA1-related neurodevelopmental disorder MONDO:0032921 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RALGDS G2P00643 RALGDS-related intellectual developmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RANBP2 G2P01534 RANBP2-related acute necrotizing encephalopathy, susceptibility to MONDO:0011953 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RANGRF G2P03815 RANGRF-related Brugada syndrome MONDO:0015263 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAP1B G2P03053 RAP1B-related developmental disorder MONDO:0958000 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAPSN G2P01050 RAPSN-related fetal akinesia deformation sequence MONDO:0100102 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RARB G2P00851 RARB-related microphthalmia syndromic MONDO:0014229 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RARB G2P02843 RARB-related microphthalmia syndromic MONDO:0014229 definitive gain of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RARS1 G2P02939 RARS1 related hypomyelinating leukodystrophy MONDO:0014506 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RARS2 G2P00217 RARS2-related pontocerebellar hypoplasia MONDO:0012683 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RASA1 G2P01088 RASA1-related capillary malformation-arteriovenous malformation MONDO:0020783 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAX G2P00310 RAX-related microphthalmia isolated definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAX G2P02339 RAX-related ocular coloboma MONDO:0001476 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAX2 G2P02260 RAX2-related cone-rod dystrophy MONDO:0012483 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RAX2 G2P02825 RAX2-related retinitis pigmentosa MONDO:0019200 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RBBP5 G2P03595 RBBP5-related neurodevelopmental disorder MONDO:0700092 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RBBP8 G2P03216 RBBP8-related microcephaly and intellectual disability MONDO:0009622 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RBCK1 G2P03754 RBCK1-related polyglucosan body cardiac and skeletal myopathy with or without immunodeficiency MONDO:0014389 strong loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RBFOX1 G2P03022 RBFOX1-related neurodevelopmental disorder MONDO:0700092 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RBM28 G2P00449 RBM28-related alopecia, neurologic defects, and endocrinopathy syndrome MONDO:0012794 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RBM8A G2P01182 RBM8A-related thrombocytopenia-absent radius syndrome MONDO:0010121 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RBP3 G2P02261 RBP3-related retinitis pigmentosa MONDO:0014093 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RBP4 G2P01919 RBP4-related microphthalmia, isolated, with coloboma MONDO:0000170 strong dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RBP4 G2P02262 RBP4-related retinal dystrophy, iris coloboma, and comedogenic acne syndrome definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RBPJ G2P01131 RBPJ-related Adams-Oliver syndrome MONDO:0013895 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RCBTB1 G2P02001 RCBTB1-related familial exudative vitreoretinopathy MONDO:0019516 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RCBTB1 G2P02002 RCBTB1-related retinal dystrophy with or without extraocular anomalies strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RCC1 G2P03893 RCC1-related infection-induced acute-onset axonal neuropathy with cerebral and cerebellar atrophy moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RD3 G2P02263 RD3-related Leber congenital amaurosis MONDO:0012525 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RDH11 G2P02264 RDH11-related retinal dystrophy, juvenile cataracts, and short stature syndrome limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RDH12 G2P01986 RDH12-related Leber congenital amaurosis MONDO:0012990 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RDH5 G2P02265 RDH5-related fundus albipunctatus MONDO:0007639 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RECQL4 G2P01640 RECQL4-related Baller-Gerold syndrome MONDO:0009039 definitive loss of function 24 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RECQL4 G2P01818 RECQL4-related Rothmund-Thomson syndrome MONDO:0016369 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. REEP6 G2P01910 REEP6-related retinitis pigmentosa MONDO:0019200 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. REST G2P03456 REST-related gingival fibromatosis and sensorineural hearing loss moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. REST G2P03355 REST-related Wilms tumour MONDO:0014779 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RETREG1 G2P00273 RETREG1-related neuropathy, hereditary sensory, and autonomic MONDO:0013142 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. REV3L G2P02222 REV3L-related Moebius syndrome MONDO:0008006 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RFT1 G2P00158 RFT1-related congenital disorder of glycosylation MONDO:0012783 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RFX3 G2P03741 RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities MONDO:0100038 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RFX4 G2P03744 RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities MONDO:0100038 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RFX6 G2P00241 RFX6-related Martinez-Frias syndrome MONDO:0011042 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RFX7 G2P03746 RFX7-related neurodevelopmental disorder with autism and other behavioural abnormalities MONDO:0957228 moderate loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RGR G2P02266 RGR-related retinitis pigmentosa MONDO:0013414 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RGS7 G2P00903 RGS7-related intellectual developmental disorder MONDO:0700092 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RGS9 G2P02267 RGS9-related bradyopsia MONDO:0958180 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RGS9BP G2P02268 RGS9BP-related bradyopsia MONDO:0958190 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RHBDF2 G2P01821 RHBDF2-related tylosis with esophageal cancer definitive gain of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RHO G2P01955 RHO-related night blindness, congenital stationary MONDO:0012498 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RHO G2P01956 RHO-related retinitis pigmentosa MONDO:0013395 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RHO G2P03566 RHO-related retinitis pigmentosa MONDO:0013395 definitive dominant negative 14 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RHOBTB2 G2P02589 RHOBTB2-related developmental and epileptic encephalopathy MONDO:0033373 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RHOH G2P03605 RHOH-related epidermodysplasia verruciformis, susceptibility to MONDO:0032666 limited undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RIC1 G2P01960 RIC1-related syndromic congenital cataract limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RICTOR G2P03914 RICTOR-related neurodevelopmental disorder limited gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RIGI G2P01163 RIGI-related Singleton-Merten syndrome MONDO:0014575 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RIMS1 G2P02325 RIMS1-related cone-rod dystrophy MONDO:0011355 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RIMS2 G2P02968 RIMS2-related syndromic congenital cone-rod synaptic disease MONDO:0033543 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RIN2 G2P01647 RIN2-related macrocephaly, alopecia, cutis laxa, and scoliosis tall forehead, sparse hair, skin hyperextensibility, and scoliosis strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RINT1 G2P02765 RINT1-related infantile-onset recurrent acute liver failure and skeletal abnormalities MONDO:0032844 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RIPK4 G2P00026 RIPK4-related popliteal pterygium syndrome, lethal type MONDO:0009901 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RLBP1 G2P02326 RLBP1-related Bothnia retinal dystrophy MONDO:0011838 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RLBP1 G2P02327 RLBP1-related Newfoundland rod-cone dystrophy MONDO:0011839 strong loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RLIM G2P02011 RLIM-related intellectual disability MONDO:0010506 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RMI1 G2P02615 RMI1-related Bloom syndrome like disorder limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RMND1 G2P00870 RMND1-related encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect MONDO:0013969 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RMRP G2P00997 RMRP-related cartilage-hair hypoplasia MONDO:0009595 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RNASEH2A G2P00259 RNASEH2A-related Aicardi-Goutieres syndrome MONDO:0012472 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RNASEH2B G2P00624 RNASEH2B-related Aicardi-Goutieres syndrome MONDO:0012429 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RNASEH2C G2P01569 RNASEH2C-related Aicardi-Goutieres syndrome MONDO:0012471 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RNASET2 G2P01330 RNASET2-related leukoencephalopathy, cystic, without megalencephaly MONDO:0013058 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RNF113A G2P01436 RNF113A-related trichothiodystrophy MONDO:0010495 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RNF125 G2P03221 RNF125-related intellectual disability and macrocephaly MONDO:0014553 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RNF13 G2P02638 RNF13-related congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive MONDO:0034106 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RNF135 G2P00405 RNF135-related macrocephaly, macrosomia, facial dysmorphism syndrome limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RNF168 G2P01361 RNF168-related RIDDLE syndrome MONDO:0012764 limited loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RNF213 G2P03928 RNF213-related moyamoya disease MONDO:0011784 moderate undetermined non-loss-of-function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RNH1 G2P03552 RNH1-related susceptibility to infection-related encephalopathy MONDO:0957561 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RNLS G2P02328 RNLS-related congenital cataract MONDO:0005129 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RNPC3 G2P03162 RNPC3-related growth hormone deficiency and short stature MONDO:0032569 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RNU12 G2P03197 RNU12-related CDAGS syndrome MONDO:0011287 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RNU2-2 G2P03745 RNU2-2-related neurodevelopmental disorder with seizures and hyperventilation MONDO:0100038 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RNU4-2 G2P03537 RNU4-2-related neurodevelopmental disorder with microcephaly and seizures (ReNU syndrome) MONDO:0971172 strong loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RNU5B-1 G2P03743 RNU5B-1-related neurodevelopmental disorder with abnormal brain imaging and congenital anomalies moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ROBO1 G2P03771 ROBO1-related neurooculorenal syndrome MONDO:0957210 moderate loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ROBO3 G2P00427 ROBO3-related familial horizontal gaze palsy with progressive scoliosis MONDO:0020790 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ROBO4 G2P02787 ROBO4-related bicuspid aortic valve and aortic aneurysm MONDO:0032783 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ROGDI G2P01344 ROGDI-related Kohlschutter-Tonz syndrome MONDO:0009185 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ROR2 G2P00572 ROR2-related brachydactyly MONDO:0007220 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ROR2 G2P00207 ROR2-related Robinow syndrome MONDO:0009999 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RORA G2P02444 RORA-related intellectual disability MONDO:0060745 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RP1 G2P02329 RP1-related retinitis pigmentosa MONDO:0008377 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RP1 G2P03907 RP1-related retinitis pigmentosa MONDO:0008377 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RP1L1 G2P02331 RP1L1-related cone dystrophy MONDO:0000455 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RP1L1 G2P02330 RP1L1-related occult macular dystrophy MONDO:0013316 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RP1L1 G2P02332 RP1L1-related retinitis pigmentosa MONDO:0019200 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RP2 G2P02333 RP2-related retinitis pigmentosa MONDO:0010723 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RP9 G2P02334 RP9-related retinitis pigmentosa MONDO:0008378 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RPE65 G2P01086 RPE65-related Leber congenital amaurosis MONDO:0008765 definitive loss of function 14 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RPE65 G2P02826 RPE65-related retinal dystrophy definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RPE65 G2P01925 RPE65-related retinitis pigmentosa MONDO:0019200 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RPGRIP1 G2P00025 RPGRIP1-related Leber congenital amaurosis MONDO:0013446 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RPGRIP1 G2P01024 RPGRIP1-related retinal dystrophy MONDO:0011987 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RPH3A G2P03519 RPH3A-related neurodevelopmental disorder MONDO:0700092 limited gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RPIA G2P02337 RPIA-related ribose 5-phosphate isomerase deficiency strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RPL10 G2P03002 RPL10-related syndromic intellectual developmental disorder MONDO:0030908 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RPL13 G2P02835 RPL13-related spondyloepimetaphyseal dysplasia with severe short stature MONDO:0032885 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RPL21 G2P03598 RPL21-related hypotrichosis MONDO:0014384 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RPL26 G2P03003 RPL26-related Diamond-Blackfan anemia MONDO:0013964 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RPS23 G2P02247 RPS23-related microcephaly, hearing loss, and dysmorphic features MONDO:0044311 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RPS6KA3 G2P02469 RPS6KA3-related Coffin-Lowry syndrome MONDO:0010561 definitive loss of function 27 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RPS6KB1 G2P03877 RPS6KB1-related hypertrophic cardiomyopathy MONDO:0024573 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RPS6KC1 G2P03904 RPS6KC1-related complex neurodevelopmental disorder with spasticity and hypoplasia of corpus callosum MONDO:0100038 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RRAGA G2P02338 RRAGA-related cataract MONDO:0005129 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RRAGC G2P03554 RRAGC-related congenital dilated cardiomyopathy with hyperlactatemia, deranged liver function and cataracts MONDO:0957960 moderate gain of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RRAS G2P00557 RRAS-related atypical Noonan syndrome MONDO:0020297 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RRAS2 G2P02770 RRAS2-related Noonan syndrome MONDO:0032839 definitive gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RREB1 G2P03775 RREB1-related RASopathy syndrome with congenital heart disease, genitourinary malformations, and developmental delay limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RRM1 G2P03370 RRM1-related mitochondrial DNA depletion/deletions syndrome MONDO:0957993 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RRM1 G2P03371 RRM1-related mitochondrial DNA depletion/deletions syndrome MONDO:0957993 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RRM2B G2P02021 RRM2B-related mitochondrial depletion syndrome MONDO:0012792 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RS1 G2P01909 RS1-related retinoschisis MONDO:0004579 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RSPH3 G2P01403 RSPH3-related primary ciliary dyskinesia with central-complex defects MONDO:0014657 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RSPO2 G2P02552 RSPO2-related tetraamelia with lung agenesis MONDO:0060732 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RSPO4 G2P00361 RSPO4-related anonychia congenita MONDO:0008798 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RSPRY1 G2P01684 RSPRY1-related progressive spondyloepimetaphyseal dysplasia MONDO:0014748 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RSRC1 G2P02949 RSRC1-related intellectual developmental disorder MONDO:0032729 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RTEL1 G2P03361 RTEL1-related dyskeratosis congenita MONDO:0014076 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RTEL1 G2P03386 RTEL1-related dyskeratosis congenita MONDO:0014076 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RTN4IP1 G2P01686 RTN4IP1-related optic atrophy with or without ataxia, intellectual developmental disorder, and seizures MONDO:0020737 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RTTN G2P01577 RTTN-related bilateral diffuse polymicrogyria MONDO:0018764 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RUBCN G2P00613 RUBCN-related syndromic intellectual disability with ataxia, dysarthria and epilepsy MONDO:0014311 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RUNX1 G2P01822 RUNX1-related platelet disorder, familial, with associated myeloid malignancy definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RYBP G2P03700 RYBP-related neurodevelopmental disorder with congenital anomalies MONDO:0100038 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RYR2 G2P03798 RYR2-related arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 refuted undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RYR2 G2P03313 RYR2-related catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 definitive gain of function 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RYR2 G2P03201 RYR2-related catecholaminergic polymorphic ventricular tachycardia and intellectual disability limited undetermined 16 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RYR2 G2P03861 RYR2-related hypertrophic cardiomyopathy MONDO:0024573 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. RYR3 G2P01198 RYR3-related epileptic encephalopathy MONDO:0100062 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SACK1G G2P03645 SACK1G-related palmoplantar keratoderma with exuberant scalp hair limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SACS G2P00505 SACS-related spastic ataxia, Charlevoix-Saguenay type MONDO:0010041 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SAG G2P02341 SAG-related Oguchi disease MONDO:0009775 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SAG G2P02342 SAG-related retinitis pigmentosa MONDO:0013407 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SALL1 G2P00094 SALL1-related Townes-Brocks syndrome MONDO:0054581 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SALL4 G2P01585 SALL4-related Duane-Radial ray syndrome MONDO:0011812 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SAMD11 G2P02343 SAMD11-related retinitis pigmentosa MONDO:0019200 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SAMD9 G2P02577 SAMD9-related myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy (MIRAGE) MONDO:0014888 definitive gain of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SAMD9L G2P01741 SAMD9L-related ataxia-pancytopenia syndrome MONDO:0008038 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SARS1 G2P03434 SARS1-related neurodevelopmental disorder MONDO:0700092 limited dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SARS1 G2P03234 SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures MONDO:0060577 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SARS2 G2P03113 SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis MONDO:0013458 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SART3 G2P03514 SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON) MONDO:0100038 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SASS6 G2P03564 SASS6-related severe microcephaly with brain abnormalities MONDO:0014623 moderate undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SATB2 G2P00222 SATB2-related Glass syndrome MONDO:0012864 definitive loss of function 24 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SBDS G2P01576 SBDS-related Shwachman-Diamond syndrome MONDO:0044204 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SBF2 G2P02344 SBF2-related Charcot-Marie-Tooth disease MONDO:0011475 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SC5D G2P00878 SC5D-related lathosterolosis MONDO:0011816 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCAF4 G2P03040 SCAF4-related neurodevelopmental disorder MONDO:0957787 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCAPER G2P00257 SCAPER-related neurodevelopmental disorder and retinitis pigmentosa MONDO:0032594 strong loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCARF2 G2P00640 SCARF2-related Van den Ende-Gupta syndrome MONDO:0010959 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCLT1 G2P02345 SCLT1-related retinitis pigmentosa MONDO:0019200 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCN10A G2P03816 SCN10A-related Brugada syndrome MONDO:0015263 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCN11A G2P00137 SCN11A-related congenital inability to experience pain MONDO:0014244 definitive gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCN11A G2P02791 SCN11A-related episodic pain syndrome, familial MONDO:0014247 definitive gain of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCN2B G2P03818 SCN2B-related Brugada syndrome MONDO:0015263 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCN3A G2P01652 SCN3A-related focal epilepsy MONDO:0054776 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCN3B G2P03819 SCN3B-related Brugada syndrome MONDO:0015263 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCN4A G2P00392 SCN4A-related hyperkalemic periodic paralysis MONDO:0008224 definitive gain of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCN4A G2P00228 SCN4A-related hypokalemic periodic paralysis MONDO:0013234 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCN4A G2P00709 SCN4A-related paramyotonia congenita of von Eulenburg MONDO:0008195 definitive undetermined 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCN4B G2P03872 SCN4B-related long QT syndrome MONDO:0002442 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCN8A G2P01608 SCN8A-related epileptic encephalopathy, early infantile MONDO:0013801 definitive dominant negative 28 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCNM1 G2P03401 SCNM1-related orofaciodigital syndrome MONDO:0859310 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCO1 G2P01205 SCO1-related mitochondrial complex IV deficiency MONDO:0033636 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCO2 G2P01048 SCO2-related fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCO2 G2P02346 SCO2-related myopia MONDO:0012154 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCRIB G2P01535 SCRIB-related 8q24.3 deletion-like syndrome limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCUBE3 G2P03098 SCUBE3-related developmental disorder MONDO:0030953 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SCYL1 G2P01658 SCYL1-related episodes of liver failure, peripheral neuropathy, cerebellar atrophy, and ataxia MONDO:0014744 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SDCCAG8 G2P01484 SDCCAG8-related Senior-Loken syndrome MONDO:0013326 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SDHA G2P01098 SDHA-related Leigh syndrome MONDO:0100294 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SDHA G2P01847 SDHA-related paragangliomas MONDO:0013602 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SDHAF1 G2P01012 SDHAF1-related mitochondrial complex II deficiency MONDO:0030935 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SDHAF2 G2P01823 SDHAF2-related paragangliomas MONDO:0011121 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SDHC G2P01826 SDHC-related paragangliomas MONDO:0011544 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SDR9C7 G2P03633 SDR9C7-related ichthyosis, congenital MONDO:0033092 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SEC23A G2P01060 SEC23A-related craniolenticulosutural dysplasia MONDO:0011911 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SEC23B G2P01219 SEC23B-related anemia, dyserythropoietic congenital MONDO:0009134 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SEC23B G2P03354 SEC23B-related Cowden syndrome MONDO:0014802 limited gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SEC24D G2P01272 SEC24D-related syndromic osteogenesis imperfecta MONDO:0014573 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SEC61A1 G2P01752 SEC61A1-related tubulo-interstitial and glomerulocystic kidney disease with anemia MONDO:0100337 limited undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SECISBP2 G2P01015 SECISBP2-related thyroid hormone metabolism, abnormal MONDO:0800046 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SELENOI G2P02551 SELENOI-related complex progressive hereditary spastic paraplegia MONDO:0032905 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SELENON G2P02981 SELENON-related myopathy MONDO:0011271 definitive loss of function 21 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SEMA3A G2P03109 SEMA3A-related skeletal dysplasia MONDO:0018230 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SEMA4A G2P02409 SEMA4A-related retinitis pigmentosa MONDO:0012463 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SEMA6B G2P02945 SEMA6B-related neurodevelopmental disorder MONDO:0030034 moderate undetermined 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SEPHS1 G2P03730 SEPHS1-related neurodevelopmental disorder MONDO:0700092 moderate undetermined non-loss-of-function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SEPSECS G2P02604 SEPSECS-related pontocerebellar hypoplasia MONDO:0013438 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SERAC1 G2P03203 SERAC1-related 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0013875 definitive loss of function 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SERPINA12 G2P03660 SERPINA12-related non-mutilating, diffuse palmoplantar keratoderma limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SERPINB6 G2P01113 SERPINB6-related deafness MONDO:0013269 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SERPINB7 G2P03614 SERPINB7-related palmoplantar keratoderma, Nagashima type MONDO:0014272 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SERPINB8 G2P03631 SERPINB8-related peeling skin syndrome MONDO:0014923 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SET G2P01711 SET-related intellectual developmental disorder MONDO:0020847 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SETBP1 G2P01213 SETBP1-related developmental and expressive language delay MONDO:0014482 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SETBP1 G2P00816 SETBP1-related Schinzel-Giedion midface retraction syndrome MONDO:0010010 definitive gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SETD1A G2P01863 SETD1A-related intellectual disability MONDO:0033630 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SETD1B G2P02660 SETD1B-related intellectual disability, epilepsy and autism MONDO:0033559 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SETD5 G2P00756 SETD5-related intellectual developmental disorder definitive loss of function 12 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SF1 G2P03901 SF1-related neurodevelopmental disorder MONDO:0700092 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SF3B4 G2P01365 SF3B4-related acrofacial dysostosis, Nager type MONDO:0007943 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SGCD G2P03847 SGCD-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SGSH G2P00415 SGSH-related mucopolysaccharidosis MONDO:0009655 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SGSM3 G2P03572 SGSM3-related intellectual disability MONDO:0001071 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SH2D1A G2P03348 SH2D1A-related lymphoproliferative syndrome MONDO:0024551 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SH3BP2 G2P01766 SH3BP2-related cherubism MONDO:0007315 limited gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SH3PXD2B G2P00268 SH3PXD2B-related Frank-ter Haar syndrome MONDO:0009579 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SHANK1 G2P01620 SHANK1-related autism MONDO:0005260 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SHANK2 G2P01210 SHANK2-related susceptibility to autism MONDO:0013265 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SHANK3 G2P00683 SHANK3-related Phelan-Mcdermid syndrome MONDO:0011652 strong loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SHH G2P01433 SHH-related holoprosencephaly MONDO:0007733 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SHH G2P01185 SHH-related microphthalmia isolated with coloboma MONDO:0012709 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SHH G2P02410 SHH-related solitary median maxillary central incisor MONDO:0007819 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SHH G2P00687 SHH-related triphalangeal thumb-polysyndactyly syndrome MONDO:0008270 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SHMT2 G2P03048 SHMT2-related neurodevelopmental syndrome MONDO:0030866 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SHOC2 G2P01633 SHOC2-related Noonan-like syndrome with loose anagen hair MONDO:0054637 definitive gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SIAH1 G2P02959 SIAH1-related neurodevelopmental disorder MONDO:0859144 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SIK1 G2P00837 SIK1-related neonatal epilepsy spectrum MONDO:0014595 definitive gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SIL1 G2P01374 SIL1-related Marinesco-Sjoegren syndrome MONDO:0009567 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SIM1 G2P02603 SIM1-related severe obesity with neurobehavioural features MONDO:0018244 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SIN3A G2P01872 SIN3A-related syndromic intellectual disability MONDO:0044699 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SIN3B G2P03147 SIN3B-related syndromic intellectual disability and autism spectrum disorder MONDO:0000508 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SIPA1L3 G2P02307 SIPA1L3-related cataract MONDO:0014799 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SIX1 G2P00815 SIX1-related branchiootic syndrome MONDO:0012025 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SIX1 G2P01857 SIX1-related deafness MONDO:0011519 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SIX1 G2P02553 SIX1-related non-syndromic craniosynostosis MONDO:0015469 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SIX3 G2P01034 SIX3-related holoprosencephaly MONDO:0007999 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SIX5 G2P00803 SIX5-related branchiootorenal syndrome MONDO:0012575 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SIX6 G2P02306 SIX6-related MAC spectrum MONDO:0008927 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SIX6 G2P00986 SIX6-related microphthalmia, isolated, with cataract limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SKI G2P01276 SKI-related Shprintzen-Goldberg craniosynostosis syndrome MONDO:0008426 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SKIC2 G2P01442 SKIC2-related trichohepatoenteric syndrome MONDO:0013818 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SKIC3 G2P01124 SKIC3-related trichohepatoenteric syndrome MONDO:0024541 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC10A7 G2P02563 SLC10A7-related chondrodysplasia with multiple dislocations and amelogenesis imperfecta MONDO:0032703 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC12A5 G2P00696 SLC12A5-related epilepsy of infancy with migrating focal seizures MONDO:0100025 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC12A6 G2P00784 SLC12A6-related agenesis of the corpus callosum with peripheral neuropathy MONDO:0000902 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC12A9 G2P03558 SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects MONDO:0100038 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC13A1 G2P03395 SLC13A1-related hypersulfaturia and hyposulfatemia moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC13A5 G2P00358 SLC13A5-related epileptic encephalopathy with seizure onset in the first days of life MONDO:0014392 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC16A12 G2P02305 SLC16A12-related cataract, juvenile, with microcornea MONDO:0012786 limited dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC16A2 G2P00919 SLC16A2-related thyroid hormone cell transporter deficiency MONDO:0010354 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC18A2 G2P03489 SLC18A2-related neurotransmitter disorder with dystonia and oculogyric crisis MONDO:0018130 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC19A3 G2P00583 SLC19A3-related thiamine metabolism dysfunction syndrome definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC1A4 G2P03440 SLC1A4-related spastic tetraplegia, thin corpus callosum, and progressive microcephaly MONDO:0014725 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC24A4 G2P00146 SLC24A4-related amelogenesis imperfecta MONDO:0014385 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC24A5 G2P02303 SLC24A5-related albinism, oculocutaneous MONDO:0018264 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC25A1 G2P02942 SLC25A1-related neurometabolic disorder MONDO:0014072 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC25A15 G2P00154 SLC25A15-related hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MONDO:0009393 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC25A19 G2P00311 SLC25A19-related Amish lethal microcephaly MONDO:0011790 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC25A22 G2P00635 SLC25A22-related epileptic encephalopathy, early infantile MONDO:0012245 strong undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC25A24 G2P02383 SLC25A24-related hypertrichosis, progeroid appearance, and mitochondrial dysfunction (Gorlin-Chaudhry-Moss syndrome ) MONDO:0012853 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC25A26 G2P01685 SLC25A26-related intra-mitochondrial methylation deficiency MONDO:0014775 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC25A38 G2P00116 SLC25A38-related anemia, sideroblastic, pyridoxine-refractory MONDO:0008785 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC25A4 G2P02572 SLC25A4-related Fontaine progeroid syndrome MONDO:0012853 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC25A4 G2P03447 SLC25A4-related mitochondrial disease MONDO:0044970 definitive undetermined 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC25A4 G2P01880 SLC25A4-related severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number MONDO:0014959 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC25A42 G2P03128 SLC25A42-related metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression MONDO:0032736 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC25A46 G2P02302 SLC25A46-related neuropathy, hereditary motor and sensory MONDO:0014671 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC27A4 G2P01223 SLC27A4-related ichthyosis prematurity syndrome MONDO:0012089 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC2A10 G2P00322 SLC2A10-related arterial tortuosity syndrome MONDO:0008818 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC2A2 G2P00661 SLC2A2-related Fanconi-Bickel syndrome definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC30A7 G2P03423 SLC30A7-related Joubert syndrome MONDO:0018772 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC31A1 G2P01558 SLC31A1-related congenital copper transport disorder MONDO:0957211 moderate undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC32A1 G2P03331 SLC32A1-related developmental and epileptic encephalopathy MONDO:0958331 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC33A1 G2P01460 SLC33A1-related congenital cataracts and hearing loss with low serum copper and ceruloplasmin MONDO:0013772 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC35A1 G2P00736 SLC35A1-related congenital disorder of glycosylation MONDO:0011342 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC35A2 G2P00785 SLC35A2-related epileptic encephalopathy due to congenital disorder of glycosylation MONDO:0010478 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC35B2 G2P03411 SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy MONDO:0859518 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC35C1 G2P00221 SLC35C1-related congenital disorder of glycosylation definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC35D1 G2P01243 SLC35D1-related Schneckenbecken dysplasia MONDO:0010013 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC38A3 G2P03205 SLC38A3-related epileptic encephalopathy MONDO:0030881 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC38A8 G2P02014 SLC38A8-related foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC39A13 G2P01634 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome MONDO:0012873 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC39A14 G2P03750 SLC39A14-related early onset dystonia parkinsonism MONDO:0014864 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC39A4 G2P02450 SLC39A4-related acrodermatitis enteropathica, zinc deficiency type definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC39A5 G2P02301 SLC39A5-related myopia MONDO:0014411 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC39A8 G2P01660 SLC39A8-related intellectual disability with cerebellar atrophy MONDO:0014746 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC40A1 G2P02499 SLC40A1-related haemochromatosis MONDO:0011631 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC45A1 G2P02234 SLC45A1-related intellectual disability and epilepsy MONDO:0044322 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC45A2 G2P02453 SLC45A2-related albinism, oculocutaneous MONDO:0011683 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC46A1 G2P00112 SLC46A1-related hereditary folate malabsorption MONDO:0009238 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC4A10 G2P03571 SLC4A10-related neurodevelopmental disorder with hypotonia and characteristic brain abnormalities MONDO:0958278 moderate loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC4A11 G2P02299 SLC4A11-related corneal dystrophy, Fuchs endothelial MONDO:0013204 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC4A11 G2P00061 SLC4A11-related corneal endothelial dystrophy with or without deafness MONDO:0009019 strong loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC4A3 G2P03267 SLC4A3-related short QT syndrome MONDO:0000453 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC4A4 G2P00541 SLC4A4-related proximal renal tubular acidosis with ocular abnormalities MONDO:0011422 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC52A2 G2P02298 SLC52A2-related Brown-Vialetto-Van Laere syndrome MONDO:0013867 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC52A3 G2P00189 SLC52A3-related Brown-Vialetto-Van Laere syndrome MONDO:0024537 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC5A5 G2P00397 SLC5A5-related thyroid hormonogenesis defect MONDO:0020716 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC5A6 G2P02935 SLC5A6-related neurodevelopmental disorder moderate loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC5A7 G2P01876 SLC5A7-related congenital myasthenic syndrome with episodic apnea MONDO:0014939 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC6A1 G2P00319 SLC6A1-related epilepsy with myoclonic-atonic seizures MONDO:0014633 definitive loss of function 23 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC6A17 G2P00656 SLC6A17-related intellectual developmental disorder MONDO:0014559 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC6A19 G2P02689 SLC6A19-related Hartnup disease MONDO:0009324 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC6A3 G2P00047 SLC6A3-related parkinsonism-dystonia, infantile definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC6A5 G2P00516 SLC6A5-related hyperekplexia MONDO:0013827 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC6A8 G2P00597 SLC6A8-related creatine deficiency syndrome MONDO:0010305 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC6A9 G2P01897 SLC6A9-related glycine encephalopathy with arthrogryposis MONDO:0015010 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC7A14 G2P02297 SLC7A14-related retinitis pigmentosa MONDO:0014323 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC9A6 G2P00806 SLC9A6-related syndromic intellectual developmental disorder, Christianson type MONDO:0010278 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC9A7 G2P03038 SLC9A7-related intellectual developmental disorder MONDO:0026723 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLC9A9 G2P01450 SLC9A9-related susceptibility to autism MONDO:0013258 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLCO2A1 G2P03602 SLCO2A1-related hypertrophic osteoarthropathy, primary MONDO:0013756 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLF2 G2P03451 SLF2-related developmental disorder MONDO:0859575 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLIRP G2P03236 SLIRP-related mitochondrial encephalomyopathy MONDO:0004675 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLIT3 G2P03748 SLIT3-related congenital anomalies limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLITRK6 G2P02355 SLITRK6-related deafness and myopia definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLMAP G2P03820 SLMAP-related Brugada syndrome MONDO:0015263 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SLURP1 G2P02737 SLURP1-related palmoplantar keratoderma transgrediens (Mal de Meleda) definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SMAD6 G2P02555 SMAD6-related non-syndromic craniosynostosis MONDO:0044315 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SMARCAD1 G2P03646 SMARCAD1-related Huriez syndrome MONDO:0008416 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SMARCAL1 G2P01398 SMARCAL1-related Schimke immunoosseous dysplasia MONDO:0009458 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SMARCD1 G2P02772 SMARCD1-related syndromic intellectual disability MONDO:0032912 moderate undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SMC1A G2P00936 SMC1A-related Cornelia de Lange syndrome MONDO:0010370 definitive undetermined 16 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SMC1A G2P02415 SMC1A-related epileptic encephalopathy MONDO:0026771 definitive loss of function 16 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SMC3 G2P00659 SMC3-related Cornelia de Lange syndrome MONDO:0012555 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SMC5 G2P03452 SMC5-related developmental disorder MONDO:0859576 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SMCHD1 G2P01773 SMCHD1-related isolated arhinia/Bosma arhinia syndrome MONDO:0011323 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SMG8 G2P03079 SMG8-related developmental disorder MONDO:0859136 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SMG9 G2P01728 SMG9-related multiple congenital anomaly syndrome moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SMOC1 G2P00660 SMOC1-related ophthalmoacromelic syndrome MONDO:0008800 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SMOC2 G2P01146 SMOC2-related dentin dysplasia with microdontia and misshapen teeth MONDO:0007436 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SMPD1 G2P00182 SMPD1-related Niemann-Pick disease MONDO:0009756 definitive loss of function 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SMPD4 G2P02808 SMPD4-related developmental disorder with microcephaly and arthrogryposis MONDO:0032838 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SMS G2P00787 SMS-related Snyder-Robinson syndrome strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SNAI2 G2P02745 SNAI2-related piebaldism MONDO:0008244 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SNAI2 G2P02516 SNAI2-related Waardenburg syndrome MONDO:0018094 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SNAP25 G2P02378 SNAP25-related epilepsy and intellectual disability MONDO:0014590 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SNAP29 G2P00151 SNAP29-related cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome) MONDO:0012290 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SNAPC4 G2P03483 SNAPC4-related neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction MONDO:0957791 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SNF8 G2P03569 SNF8-related disease spectrum (severe developmental and epileptic encephalopathy to syndromic optic atrophy) MONDO:0968947 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SNIP1 G2P01312 SNIP1-related symptomatic epilepsy and skull dysplasia limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SNORD118 G2P01787 SNORD118-related leukoencephalopathy with cerebral calcification and cysts MONDO:0013803 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SNRNP200 G2P02388 SNRNP200-related retinal dystrophy strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SNRNP200 G2P02296 SNRNP200-related retinitis pigmentosa MONDO:0012477 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SNRPB G2P00578 SNRPB-related cerebro-costo-mandibular syndrome MONDO:0007301 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SNRPE G2P00962 SNRPE-related hypotrichosis simplex MONDO:0014027 strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SNRPN G2P02673 SNRPN-related Prader-Willi syndrome MONDO:0008300 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SNTA1 G2P03873 SNTA1-related long QT syndrome MONDO:0002442 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SNUPN G2P03776 SNUPN-related muscular dystrophy with or without multi-system involvement MONDO:0971171 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SNX14 G2P01581 SNX14-related intellectual disability, macrocephaly and cerebellar hypoplasia MONDO:0014601 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SNX3 G2P00223 SNX3-related microphthalmia syndromic limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SOBP G2P00975 SOBP-related intellectual developmental disorder-anterior maxillary protrusion-strabismus MONDO:0013353 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SON G2P01874 SON-related intellectual disability, congenital malformations, and failure to thrive MONDO:0014936 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SOS2 G2P03139 SOS2-related Noonan syndrome MONDO:0014691 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SOX18 G2P02713 SOX18-related hypotrichosis-lymphoedema-telangiectasia syndrome definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SOX3 G2P01222 SOX3-related intellectual developmental disorder with isolated growth hormone deficiency MONDO:0010252 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SOX3 G2P00638 SOX3-related sex reversal MONDO:0010442 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SOX4 G2P02643 SOX4-related neurodevelopmental disease associated with mild dysmorphism MONDO:0032791 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SOX5 G2P01376 SOX5-related 12p12.5 intragenic deletions associated with intellectual disability MONDO:0014778 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SOX6 G2P02967 SOX6-related neurodevelopmental syndrome MONDO:0033544 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SP9 G2P03714 SP9-related neurodevelopmental disorder with or without epileptic encephalopathy MONDO:0100038 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPAG1 G2P01493 SPAG1-related primary ciliary dyskinesia associated with defective outer and inner dynein arms MONDO:0014216 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPARC G2P01673 SPARC-related osteogenesis imperfecta MONDO:0014672 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPAST G2P02859 SPAST-related developmental disorder MONDO:0700092 strong undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPAST G2P03840 SPAST-related spastic paraplegia MONDO:0008438 definitive loss of function 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPATA7 G2P01988 SPATA7-related Leber congenital amaurosis MONDO:0011415 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPECC1L G2P01400 SPECC1L-related facial clefting, oblique strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPEG G2P01203 SPEG-related centronuclear myopathy with dilated cardiomyopathy MONDO:0014418 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPEN G2P02894 SPEN-related developmental disorder MONDO:0859143 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPG11 G2P01112 SPG11-related spastic paraplegia MONDO:0011445 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPG7 G2P02348 SPG7-related spastic paraplegia MONDO:0011803 definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPINT2 G2P02429 SPINT2-related syndromic congenital sodium diarrhea MONDO:0034204 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPOP G2P02937 SPOP-related neurodevelopmental disorder, dominant negative MONDO:0032943 strong dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPOP G2P02936 SPOP-related neurodevelopmental disorder, gain of function MONDO:0032942 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPP2 G2P02295 SPP2-related retinitis pigmentosa MONDO:0019200 limited dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPR G2P01144 SPR-related DOPA-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPRED1 G2P00953 SPRED1-related Legius syndrome MONDO:0012669 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPRED2 G2P03225 SPRED2-related Noonan syndrome MONDO:0030679 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPRTN G2P01584 SPRTN-related progeria and hepatocellular carcinoma MONDO:0014527 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPRY1 G2P03436 SPRY1-related craniosynostosis with inner ear and renal anomalies limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPTAN1 G2P00546 SPTAN1-related neurodevelopmental disorder with epilepsy and spastic paraplegia MONDO:0013277 definitive dominant negative 18 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPTBN1 G2P02895 SPTBN1-related developmental disorder MONDO:0859178 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPTBN2 G2P02606 SPTBN2-related infantile ataxia with oculomotor and pyramidal signs MONDO:0010848 strong dominant negative 12 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPTBN2 G2P02607 SPTBN2-related spinocerebellar ataxia MONDO:0014159 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPTBN4 G2P02982 SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness MONDO:0060496 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPTLC2 G2P01537 SPTLC2-related neuropathy, hereditary sensory and autonomic MONDO:0013337 strong undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPTSSA G2P03752 SPTSSA-related complex hereditary spastic paraplegia MONDO:0957308 moderate gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SPTSSA G2P03759 SPTSSA-related complex hereditary spastic paraplegia MONDO:0957308 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SRCAP G2P00246 SRCAP-related Floating-Harbor syndrome MONDO:0007621 definitive dominant negative 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SRCAP G2P03152 SRCAP-related neurodevelopmental disorder MONDO:0859202 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SRD5A3 G2P00964 SRD5A3-related congenital disorder of glycosylation MONDO:0012885 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SREBF1 G2P03693 SREBF1-related ichthyosis, follicular, with atrichia and photophobia syndrome MONDO:0100221 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SREBF1 G2P03656 SREBF1-related mucoepithelial dysplasia, hereditary MONDO:0008017 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SREBF2 G2P03705 SREBF2-related complex dermatological, neurological, and skeletal abnormalities moderate dominant negative 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SRGAP3 G2P01183 SRGAP3-related intellectual disability limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SRP54 G2P02416 SRP54-related syndromic neutropenia with Shwachman-Diamond-like features MONDO:0032899 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SRPX2 G2P01418 SRPX2-related bilateral perisylvian polymicrogyria MONDO:0010314 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SRRM2 G2P02896 SRRM2-related developmental disorder MONDO:0957397 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SRSF1 G2P02897 SRSF1-related developmental disorder MONDO:0957583 limited loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SRY G2P00749 SRY-related 46XY sex reversal MONDO:0020712 definitive loss of function 16 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ST14 G2P01285 ST14-related ichthyosis with hypotrichosis MONDO:0011218 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ST3GAL3 G2P01455 ST3GAL3-related intellectual developmental disorder MONDO:0012612 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ST3GAL5 G2P01181 ST3GAL5-related Amish infantile epilepsy syndrome definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STAC3 G2P03138 STAC3-related congenital myopathy and malignant hyperthermia MONDO:0009722 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STAG1 G2P01864 STAG1-related syndromic intellectual disability MONDO:0030912 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STAG2 G2P02545 STAG2-related developmental delay with microcephaly and congenital anomalies MONDO:0026722 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STAMBP G2P00296 STAMBP-related microcephaly-capillary malformation syndrome MONDO:0013659 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STAR G2P01298 STAR-related cholesterol desmolase-deficient congenital adrenal hyperplasia MONDO:0008725 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STAT2 G2P02548 STAT2-related gain of function causing increased interferon signalling MONDO:0030044 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STAT2 G2P01646 STAT2-related viral induced severe multiorgan dysfunction related with impaired mitochondrial fission MONDO:0014715 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STIL G2P01413 STIL-related primary microcephaly MONDO:0012989 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STN1 G2P02547 STN1-related cerebroretinal microangiopathy with calcifications and cysts MONDO:0015026 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STRA6 G2P00291 STRA6-related syndromic microphthalmia MONDO:0011010 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STRADA G2P03101 STRADA-related polyhydramnios, megalencephaly, and symptomatic epilepsy MONDO:0012611 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STS G2P00283 STS-related ichthyosis MONDO:0010622 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STT3A G2P01064 STT3A-related congenital disorder of glycosylation MONDO:0859223 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STT3A G2P03226 STT3A-related type I congenital disorder of glycosylation with neuromusculoskeletal disease MONDO:0859223 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STT3B G2P01232 STT3B-related congenital disorder of glycosylation MONDO:0014271 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STX1A G2P03465 STX1A-related neurodevelopmental disorder with epilepsy MONDO:0100038 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STX1A G2P03466 STX1A-related neurodevelopmental disorder without epilepsy MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. STX1B G2P00797 STX1B-related generalized epilepsy with febrile seizures plus MONDO:0014517 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SUCLG1 G2P01553 SUCLG1-related fatal infantile lactic acidosis MONDO:0009504 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SULT2B1 G2P03641 SULT2B1-related ichthyosis, congenital MONDO:0033091 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SUMF1 G2P00403 SUMF1-related multiple sulfatase deficiency MONDO:0010088 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SUMO1 G2P00051 SUMO1-related cleft lip with or without cleft palate MONDO:0013378 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SUOX G2P02294 SUOX-related sulfite oxidase deficiency MONDO:0010089 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SUPT16H G2P03010 SUPT16H-related neurodevelopmental disorder MONDO:0859179 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SURF1 G2P00483 SURF1-related Leigh syndrome MONDO:0700250 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SUZ12 G2P02648 SUZ12-related Weaver-like overgrowth syndrome MONDO:0032916 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SYN1 G2P01274 SYN1-related epilepsy with variable learning disabilities and behaviour disorders MONDO:0010339 strong loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SYNCRIP G2P02868 SYNCRIP-related developmental disorder MONDO:0800456 limited loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SYNE1 G2P00845 SYNE1-related spinocerebellar ataxia MONDO:0012549 strong loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SYP G2P01369 SYP-related intellectual developmental disorder, X-linked MONDO:0010429 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SYT1 G2P00305 SYT1-related intellectual disability strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SYT2 G2P03051 SYT2-related congenital onset presynaptic myasthenic syndrome MONDO:0030341 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. SZT2 G2P00368 SZT2-related infantile encephalopathy with epilepsy and dysmorphic corpus callosum MONDO:0014201 strong loss of function 21 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TAB2 G2P01246 TAB2-related nonsyndromic congenital heart disease MONDO:0013025 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TAC3 G2P00444 TAC3-related hypogonadotropic hypogonadism MONDO:0013912 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TACO1 G2P01121 TACO1-related Leigh syndrome due to mitochondrial complex IV deficiency MONDO:0033638 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TACR3 G2P00493 TACR3-related hypogonadotropic hypogonadism MONDO:0013913 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TACSTD2 G2P02293 TACSTD2-related corneal dystrophy, gelatinous drop-like MONDO:0008777 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TAF1 G2P01662 TAF1-related dysmorphic features, intellectual disability, and neurological manifestations MONDO:0010500 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TAF13 G2P02249 TAF13-related intellectual disability and microcephaly MONDO:0044313 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TAF1A G2P02292 TAF1A-related syndromic congenital cataract limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TAF1C G2P03747 TAF1C-related neurodevelopmental disorder limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TAF2 G2P01319 TAF2-related intellectual developmental disorder limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TAF4 G2P03344 TAF4-related neurodevelopmental disorder MONDO:0957536 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TAF8 G2P03342 TAF8-related neurodevelopmental disorder MONDO:0859266 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TAFAZZIN G2P01173 TAFAZZIN-related Barth syndrome MONDO:0010543 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TALDO1 G2P02512 TALDO1-related transaldolase deficiency MONDO:0011624 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TANC2 G2P03020 TANC2-related neurodevelopmental and psychiatric disorders MONDO:0030051 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TANGO2 G2P01720 TANGO2-related infancy-onset recurrent metabolic crises with encephalocardiomyopathy MONDO:0018820 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TAOK1 G2P02766 TAOK1-related intellectual disability MONDO:0859199 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TAP1 G2P02459 TAP1-related bare lymphocyte syndrome MONDO:0971006 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TAPT1 G2P02291 TAPT1-related cataract MONDO:0005129 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TAPT1 G2P01682 TAPT1-related complex lethal osteochondrodysplasia MONDO:0014821 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TARS1 G2P02763 TARS1-related non-photosensitive trichothiodystrophy MONDO:0032806 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TASP1 G2P02838 TASP1-related neurodevelopmental disorder MONDO:0033532 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TAT G2P00691 TAT-related tyrosinemia MONDO:0010160 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBC1D20 G2P02411 TBC1D20-related Warburg micro syndrome MONDO:0014296 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBC1D23 G2P02366 TBC1D23-related non-degenerative pontocerebellar hypoplasia MONDO:0054669 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBC1D24 G2P01549 TBC1D24-related DOORS syndrome MONDO:0009079 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBC1D24 G2P00568 TBC1D24-related myoclonic epilepsy, infantile, familial MONDO:0011506 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBC1D2B G2P03012 TBC1D2B-related neurodevelopmental disorder MONDO:0859148 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBC1D32 G2P03506 TBC1D32-related ciliopathy MONDO:0005308 moderate loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBCD G2P01887 TBCD-related early-onset neurodegenerative encephalopathy MONDO:0044646 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBCE G2P01888 TBCE-related early-onset progressive encephalopathy with distal spinal muscular atrophy MONDO:0014968 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBCE G2P01132 TBCE-related hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0009426 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBCK G2P01730 TBCK-related severe infantile syndromic encephalopathy MONDO:0014823 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBL1XR1 G2P00164 TBL1XR1-related intellectual disability with autism spectrum disorder MONDO:0014842 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBL1XR1 G2P02549 TBL1XR1-related Pierpont syndrome MONDO:0011213 definitive gain of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBR1 G2P01628 TBR1-related autism MONDO:0005260 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBX1 G2P00152 TBX1-related 22q11.2 deletion syndrome MONDO:0008564 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBX15 G2P01764 TBX15-related craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature (Cousin syndrome) definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBX18 G2P01675 TBX18-related congenital anomalies of kidney and urinary tract MONDO:0027676 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBX20 G2P00772 TBX20-related atrial septal defect MONDO:0012654 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBX20 G2P03848 TBX20-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBX22 G2P02353 TBX22-related Abruzzo-Erickson syndrome MONDO:0010554 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBX22 G2P01225 TBX22-related cleft palate MONDO:0010560 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBX3 G2P00028 TBX3-related Ulnar-mammary syndrome MONDO:0008411 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TBXAS1 G2P00704 TBXAS1-related ghosal hematodiaphyseal syndrome MONDO:0009274 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TCAP G2P03849 TCAP-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TCAP G2P03884 TCAP-related hypertrophic cardiomyopathy MONDO:0024573 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TCEAL1 G2P03454 TCEAL1-related neurodevelopmental disorder MONDO:0859085 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TCF12 G2P00690 TCF12-related neurodevelopmental disorder with coronal craniosynostosis MONDO:0014128 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TCF20 G2P01713 TCF20-related developmental delay with variable intellectual impairment and behavioural abnormalities MONDO:0032745 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TCF4 G2P02290 TCF4-related corneal dystrophy, fuchs endothelial MONDO:0013203 strong undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TCF4 G2P00140 TCF4-related Pitt-Hopkins syndrome MONDO:0012589 definitive loss of function 14 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TCHH G2P03638 TCHH-related uncombable hair syndrome MONDO:0014990 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TCN2 G2P01666 TCN2-related transcobalamin II deficiency MONDO:0010149 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TCOF1 G2P01334 TCOF1-related Treacher Collins syndrome MONDO:0007944 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TCP1 G2P03584 TCP1-related neurodevelopmental disorder with polymicrogyria MONDO:0976124 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TCTN3 G2P01623 TCTN3-related Mohr-Majewski syndrome MONDO:0009794 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TDP2 G2P03522 TDP2-related spinocerebellar ataxia with seizures and developmental delay MONDO:0014846 moderate loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TDRD7 G2P01467 TDRD7-related cataract with or without azoospermia MONDO:0013484 moderate loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TEAD1 G2P02289 TEAD1-related Sveinsson chorioretinal atrophy limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TECPR2 G2P00571 TECPR2-related hereditary spastic paraparesis strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TECRL G2P03259 TECRL-related catecholaminergic polymorphic ventricular tachycardia MONDO:0013529 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TECTA G2P00457 TECTA-related deafness MONDO:0019497 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TECTA G2P00632 TECTA-related deafness MONDO:0019497 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TEDC1 G2P03790 TEDC1-related neurodevelopmental disorder with growth impairment, microcephaly, and endocrine abnormalities. moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TEK G2P02003 TEK-related primary congenital glaucoma MONDO:0000365 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TEK G2P02514 TEK-related venous malformations, multiple cutaneous and mucosal MONDO:0010842 definitive gain of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TELO2 G2P01733 TELO2-related syndromic intellectual disability disorder MONDO:0014848 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TENM3 G2P02426 TENM3-related colobomatous microphthalmia MONDO:0014059 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TERC G2P01668 TERC-related dyskeratosis congenita MONDO:0007485 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TET3 G2P02928 TET3-related DNA demethylation disorder MONDO:0032922 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TET3 G2P02929 TET3-related DNA demethylation disorder MONDO:0032922 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TFAP2A G2P00703 TFAP2A-related branchiooculofacial syndrome MONDO:0007235 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TFAP2B G2P00497 TFAP2B-related Char syndrome MONDO:0008209 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TFE3 G2P03013 TFE3-related intellectual disability with pigmentary mosaicism and coarse features MONDO:0859080 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TFR2 G2P02498 TFR2-related haemochromatosis MONDO:0011417 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TFRC G2P01748 TFRC-related combined immunodeficiency MONDO:0014760 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TGDS G2P01217 TGDS-related Catel-Manzke syndrome MONDO:0014507 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TGFB3 G2P03800 TGFB3-related arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TGFB3 G2P00038 TGFB3-related Loeys-Dietz syndrome definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TGFBI G2P01926 TGFBI-related granular corneal dystrophy, type I MONDO:0007377 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TGFBI G2P01929 TGFBI-related granular corneal dystrophy, type II MONDO:0011855 definitive undetermined 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TGFBI G2P02413 TGFBI-related lattice corneal dystrophy, type I MONDO:0007380 definitive undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TGFBI G2P01927 TGFBI-related Reis-Bucklers corneal dystrophy MONDO:0012043 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TGFBI G2P01928 TGFBI-related Thiel-Behnke corneal dystrophy MONDO:0011185 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TGIF1 G2P00954 TGIF1-related holoprosencephaly MONDO:0007734 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TGM1 G2P02715 TGM1-related congenital ichthyosis MONDO:0009441 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TGM3 G2P03637 TGM3-related uncombable hair syndrome MONDO:0014989 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TGM5 G2P02739 TGM5-related peeling skin syndrome, acral type MONDO:0012345 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TH G2P01562 TH-related DOPA-responsive dystonia definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. THAP1 G2P01076 THAP1-related dystonia, torsion MONDO:0011264 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. THG1L G2P03161 THG1L-related cerebellar ataxia MONDO:0032923 limited undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. THOC2 G2P01676 THOC2-related intellectual developmental disorder MONDO:0010496 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. THOC6 G2P01987 THOC6-related Beaulieu-Boycott-Innes syndrome MONDO:0013362 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. THRA G2P00553 THRA-related hypothyroidism, congenital, nongoitrous MONDO:0013757 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. THUMPD1 G2P03245 THUMPD1-related neurodevelopment disorder MONDO:0859272 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TIMM22 G2P03918 TIMM22-related combined oxidative phosphorylation deficiency limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TIMM8A G2P00639 TIMM8A-related Mohr-Tranebjaerg syndrome strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TIMP3 G2P01918 TIMP3-related Sorsby fundus dystrophy MONDO:0007640 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TINF2 G2P03359 TINF2-related dyskeratosis congenita MONDO:0013522 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TINF2 G2P01664 TINF2-related exudative retinopathy with bone marrow failure MONDO:0009990 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TK2 G2P01507 TK2-related mitochondrial DNA depletion syndrome, myopathic form MONDO:0012301 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TKFC G2P02931 TKFC-related cataracts and multisystem disease MONDO:0032927 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TKFC G2P03679 TKFC-related hypotrichosis with loose anagen syndrome limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TKT G2P01743 TKT-related short stature, developmental delay, and congenital heart defects MONDO:0014881 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TLK2 G2P01770 TLK2-related intellectual developmental disorder MONDO:0054837 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TLL1 G2P00416 TLL1-related atrial septal defect MONDO:0013123 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TM2D3 G2P03783 TM2D3-related neurodevelopmental disorder with microcephaly and congenital malformations MONDO:0700092 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TM4SF20 G2P01165 TM4SF20-related specific language impairment MONDO:0014184 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMC6 G2P02484 TMC6-related epidermodysplasia verruciformis MONDO:0100045 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMC8 G2P02485 TMC8-related epidermodysplasia verruciformis MONDO:0032614 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMCO1 G2P01089 TMCO1-related craniofacial dysmorphism, skeletal anomalies, and intellectual developmental disorder syndrome MONDO:0800436 definitive loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM106B G2P02940 TMEM106B related hypomyelinating leukodystrophy MONDO:0054791 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM114 G2P00204 TMEM114-related congenital and juvenile cataract limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM126A G2P02017 TMEM126A-related optic atrophy MONDO:0003608 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM126B G2P01754 TMEM126B-related muscle weakness and isolated complex I deficiency MONDO:0032633 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM127 G2P01835 TMEM127-related pheochromocytoma, susceptibility to MONDO:0008233 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM135 G2P01472 TMEM135-related intellectual developmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM138 G2P02288 TMEM138-related Joubert syndrome MONDO:0013764 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM147 G2P03375 TMEM147-related developmental disorder MONDO:0859298 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM163 G2P03373 TMEM163-related hypomyelinating leukodystrophy MONDO:0859378 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM165 G2P00773 TMEM165-related congenital disorder of glycosylation MONDO:0013870 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM184B G2P03910 TMEM184B-related neurodevelopmental disorder limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM218 G2P03338 TMEM218-related ciliopathy MONDO:0005308 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM222 G2P03198 TMEM222-related neurodevelopmental disorder with motor and speech delay and behavioural abnormalities MONDO:0859176 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM240 G2P03137 TMEM240-related spinocerebellar ataxia and intellectual disability MONDO:0011833 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM260 G2P02238 TMEM260-related neurodevelopmental, cardiac, and renal syndrome MONDO:0044321 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM43 G2P03254 TMEM43-related arrhythmogenic right ventricular cardiomyopathy MONDO:0011459 definitive undetermined 11 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM63A G2P02831 TMEM63A-related transient hypomyelination during infancy MONDO:0032871 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM63B G2P03520 TMEM63B-related developmental and epileptic encephalopathy with anemia MONDO:0800503 moderate gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM63C G2P03332 TMEM63C-related hereditary spastic paraplegia MONDO:0031019 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM70 G2P01391 TMEM70-related mitochondrial complex V (ATP synthase) deficiency, nuclear MONDO:0013546 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM94 G2P02634 TMEM94-related neurodevelopmental delay, congenital heart defects, and distinct facial dysmorphism MONDO:0032672 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMEM98 G2P02286 TMEM98-related nanophthalmos MONDO:0014426 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMPO G2P03862 TMPO-related hypertrophic cardiomyopathy MONDO:0024573 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMPRSS6 G2P01323 TMPRSS6-related iron-refractory iron deficiency anemia MONDO:0008788 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMTC3 G2P01898 TMTC3-related cobblestone lissencephaly MONDO:0014992 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TMX2 G2P02568 TMX2-related primary microcephaly, cortical malformation, and epileptic encephalopathy MONDO:0032887 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TNFRSF13B G2P00866 TNFRSF13B-related immunodeficiency, common variable MONDO:0009413 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TNNC1 G2P03275 TNNC1-related dilated cardiomyopathy MONDO:0012745 definitive undetermined 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TNNC1 G2P03719 TNNC1-related hypertrophic cardiomyopathy MONDO:0013195 definitive undetermined 13 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TNNI3 G2P03282 TNNI3-related hypertrophic cardiomyopathy MONDO:0013369 definitive undetermined 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TNNI3K G2P03850 TNNI3K-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TNPO2 G2P03192 TNPO2-related intellectual disability MONDO:0859197 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TNRC6B G2P03050 TNRC6B-related neurodevelopmental disorder MONDO:0030995 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TOE1 G2P02257 TOE1-related pontocerebellar hypoplasia MONDO:0013993 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TOGARAM1 G2P03028 TOGARAM1-related ciliopathy MONDO:0005308 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TONSL G2P02564 TONSL-related sponastrime dysplasia MONDO:0010068 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TOP3A G2P02616 TOP3A-related Bloom syndrome like disorder MONDO:0020628 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TOR1A G2P03526 TOR1A-related arthrogryposis multiplex congenita MONDO:0100218 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TP53RK G2P02818 TP53RK-related Galloway-Mowat syndrome MONDO:0033008 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TP63 G2P02284 TP63-related ADULT syndrome MONDO:0007072 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TP63 G2P02323 TP63-related ectodermal dysplasia Rapp-Hodgkin type MONDO:0007508 definitive undetermined 17 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TP63 G2P00761 TP63-related ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome MONDO:0007124 definitive loss of function 20 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TP63 G2P01543 TP63-related limb-mammary syndrome MONDO:0011334 definitive undetermined 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TP63 G2P02747 TP63-related Rapp-Hodgkin syndrome MONDO:0007508 definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TP73 G2P03186 TP73-related ciliary dyskinesia and lissencephaly MONDO:0030346 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TPM1 G2P03283 TPM1-related hypertrophic cardiomyopathy MONDO:0007267 definitive undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TPP1 G2P01601 TPP1-related neuronal ceroid lipofuscinosis MONDO:0008769 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TPP2 G2P03105 TPP2-related immune deficiency, autoimmune disease and intellectual disability MONDO:0030971 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TPRKB G2P02820 TPRKB-related Galloway-Mowat syndrome MONDO:0033009 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TPRN G2P00939 TPRN-related deafness MONDO:0013215 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRA2B G2P03418 TRA2B-related neurodevelopmental syndrome MONDO:0700092 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRAF7 G2P02612 TRAF7-related developmental delay congenital anomalies and dysmorphic features MONDO:0032572 strong undetermined 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRAIP G2P01669 TRAIP-related primordial dwarfism MONDO:0014767 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRAPPC10 G2P03133 TRAPPC10-related intellectual disability MONDO:0859285 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRAPPC11 G2P01200 TRAPPC11-related muscular dystrophy, limb-girdle MONDO:0014144 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRAPPC12 G2P02220 TRAPPC12-related progressive childhood encephalopathy and Golgi dysfunction MONDO:0044696 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRAPPC2 G2P00074 TRAPPC2-related spondyloepiphyseal dysplasia tarda MONDO:0010737 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRAPPC2L G2P03196 TRAPPC2L-related encephalopathy, progressive, early-onset, with episodic rhabdomyolysis MONDO:0032681 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRAPPC4 G2P03047 TRAPPC4-related neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy MONDO:0032894 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRAPPC6B G2P03770 TRAPPC6B-related neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy MONDO:0060640 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRAPPC9 G2P01262 TRAPPC9-related intellectual developmental disorder MONDO:0013173 definitive loss of function 19 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRDN G2P03260 TRDN-related catecholaminergic polymorphic ventricular tachycardia MONDO:0014191 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRDN G2P03288 TRDN-related long QT syndrome MONDO:0019171 strong loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TREX1 G2P00365 TREX1-related Aicardi-Goutieres syndrome MONDO:0009165 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRIM28 G2P03356 TRIM28-related Wilms tumour MONDO:0024676 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRIM32 G2P00010 TRIM32-related Bardet-Biedl syndrome MONDO:0014439 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRIM32 G2P00899 TRIM32-related limb-girdle muscular dystrophy MONDO:0009683 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRIM37 G2P01532 TRIM37-related mulibrey nanism MONDO:0009664 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRIM44 G2P02282 TRIM44-related aniridia MONDO:0014938 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRIM71 G2P03899 TRIM71-related neurodevelopmental disorder with ventriculomegaly and hydrocephalus MONDO:0032862 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRIM8 G2P02965 TRIM8-related neurodevelopmental disorder MONDO:0100111 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRIO G2P01096 TRIO-related intellectual disability MONDO:0032939 strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRIP11 G2P00948 TRIP11-related achondrogenesis MONDO:0008701 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRIP12 G2P01895 TRIP12-related intellectual disability with or without autism spectrum disorder MONDO:0030914 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRIP13 G2P02251 TRIP13-related mosaic variegated aneuploidy and Wilms tumour MONDO:0054736 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRIP4 G2P01721 TRIP4-related prenatal spinal muscular atrophy and congenital bone fractures MONDO:0014806 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRIT1 G2P01848 TRIT1-related tRNA isopentenyltransferase deficiency MONDO:0054742 limited undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRMT1 G2P00232 TRMT1-related intellectual developmental disorder MONDO:0032665 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRMT10A G2P03005 TRMT10A-related intellectual developmental disorder MONDO:0000208 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRMT10C G2P01736 TRMT10C-related mitochondrial RNA processing and multiple respiratory chain deficiencies MONDO:0014856 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRNT1 G2P02281 TRNT1-related hypogammaglobulinemia, short stature with microcephaly, cataract, and inner retinal dysfunction strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRNT1 G2P02280 TRNT1-related retinitis pigmentosa and erythrocytic microcytosis MONDO:0014850 strong loss of function 10 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRPC5 G2P03413 TRPC5-related neurodevelopmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRPM1 G2P00280 TRPM1-related night blindness, congenital stationary MONDO:0013183 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRPM3 G2P02899 TRPM3-related developmental disorder MONDO:0859365 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRPM4 G2P03821 TRPM4-related Brugada syndrome MONDO:0015263 disputed undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRPM4 G2P03651 TRPM4-related erythrokeratodermiavariabilis et progressiva MONDO:0032801 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRPS1 G2P00334 TRPS1-related trichorhinopharangeal syndrome MONDO:0008596 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRPV6 G2P02608 TRPV6-related transient neonatal hyperparathyroidism MONDO:0032591 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TRRAP G2P02646 TRRAP-related autism and syndromic intellectual disability MONDO:0032760 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TSEN15 G2P01755 TSEN15-related pontocerebellar hypoplasia and progressive microcephaly MONDO:0014874 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TSEN2 G2P01310 TSEN2-related pontocerebellar hypoplasia MONDO:0012890 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TSEN34 G2P00487 TSEN34-related pontocerebellar hypoplasia MONDO:0012891 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TSEN54 G2P01610 TSEN54-related pontocerebellar hypoplasia MONDO:0020135 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TSHB G2P01350 TSHB-related hypothryoidism, congenital, nongoitrous MONDO:0010139 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TSHZ1 G2P01431 TSHZ1-related aural atresia, congenital MONDO:0011921 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TSPAN12 G2P01913 TSPAN12-related exudative vitreoretinopathy MONDO:0013218 definitive loss of function 14 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TSPAN7 G2P01081 TSPAN7-related intellectual developmental disorder MONDO:0010266 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TSPEAR G2P03477 TSPEAR-related ectodermal dysplasia and tooth agenesis MONDO:0032584 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TTC12 G2P02927 TTC12-related primary ciliary dyskinesia MONDO:0032924 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TTC19 G2P00692 TTC19-related mitochondrial complex III deficiency MONDO:0014063 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TTC5 G2P02960 TTC5-related neurodevelopmental disorder MONDO:0030999 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TTC7A G2P00902 TTC7A-related intestinal atresia, inflammatory bowel disease and immunodeficiency MONDO:0800030 definitive loss of function 15 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TTC8 G2P00644 TTC8-related Bardet-Biedl syndrome MONDO:0014436 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TTC8 G2P00345 TTC8-related retinitis pigmentosa MONDO:0013274 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TTI1 G2P03473 TTI1-related microcephaly, intellectual disability and ataxia moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TTI2 G2P01468 TTI2-related intellectual developmental disorder MONDO:0014238 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TTLL5 G2P02279 TTLL5-related cone-rod dystrophy MONDO:0014372 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TTPA G2P02515 TTPA-related vitamin E, familial isolated deficiency of definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TUB G2P02278 TUB-related retinal dystrophy and obesity MONDO:0014522 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TUBA1A G2P01192 TUBA1A-related tubulinopathy definitive undetermined 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TUBA8 G2P00142 TUBA8-related polymicrogyria with optic nerve hypoplasia MONDO:0013172 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TUBB G2P01654 TUBB-related developmental disorder with cleft palate, cranial malformations and circumferential skin creases (Kunze type) MONDO:0020738 strong undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TUBB2A G2P00402 TUBB2A-related cortical dysplasia, complex, with other brain malformations MONDO:0014337 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TUBB2B G2P01228 TUBB2B-related polymicrogyria asymmetric MONDO:0012399 definitive dominant negative 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TUBB3 G2P00755 TUBB3-related cortical dysplasia, complex, with other brain malformations MONDO:0013541 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TUBB3 G2P01941 TUBB3-related fibrosis of extraocular muscles, congenital MONDO:0010912 strong undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TUBB4A G2P00981 TUBB4A-related hypomyelination with atrophy of the basal ganglia and cerebellum definitive gain of function 21 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TUBG1 G2P02358 TUBG1-related posteriorly predominant pachygyria and severe microcephaly MONDO:0014171 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TUBGCP2 G2P02836 TUBGCP2-related microcephaly and lissencephaly spectrum disorders MONDO:0032893 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TUBGCP4 G2P00760 TUBGCP4-related microcephaly with chorioretinopathy MONDO:0014592 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TUBGCP6 G2P00556 TUBGCP6-related microcephaly with chorioretinopathy with or without developmental delay MONDO:0009624 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TUFM G2P01108 TUFM-related combined oxidative phosphorylation deficiency MONDO:0012534 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TUFT1 G2P03681 TUFT1-related woolly hair and superficial skin fragility limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TULP1 G2P01989 TULP1-related retinitis pigmentosa MONDO:0010827 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TUSC3 G2P01309 TUSC3-related intellectual developmental disorder MONDO:0012615 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TWIST1 G2P00842 TWIST1-related Saethre-Chotzen syndrome MONDO:0007042 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TWIST2 G2P00083 TWIST2-related ablepharon-macrostomia syndrome MONDO:0008693 definitive dominant negative 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TWIST2 G2P01020 TWIST2-related Setleis syndrome MONDO:0009203 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TXNL4A G2P01512 TXNL4A-related Burn Mckeown syndrome MONDO:0012064 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. TYRP1 G2P01116 TYRP1-related oculocutaneous albinism MONDO:0008747 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. U2AF2 G2P02884 U2AF2-related neurodevelopmental disorder MONDO:0957810 strong undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UBA2 G2P03594 UBA2-related congenital anomalies with or without aplasia cutis congenita and ectrodactyly and variable developmental delay MONDO:0859262 strong loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UBA5 G2P01763 UBA5-related severe infantile-onset encephalopathy MONDO:0014933 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UBAP2L G2P03345 UBAP2L-related neurodevelopmental disorder MONDO:0957588 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UBE2A G2P00712 UBE2A-related syndromic intellectual developmental disorder MONDO:0010461 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UBE3B G2P01065 UBE3B-related blepharophimosis-intellectual developmental disorder MONDO:0009485 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UBE3C G2P03491 UBE3C-related neurodevelopmental disorder with absent speech and movement and behavioural abnormalities limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UBE4A G2P03120 UBE4A-related neurodevelopmental disorder MONDO:0859207 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UBIAD1 G2P01933 UBIAD1-related Schyder corneal dystrophy MONDO:0007374 definitive undetermined 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UBR1 G2P00740 UBR1-related Johanson-Blizzard syndrome MONDO:0009479 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UBR5 G2P03734 UBR5-related neurodevelopmental disorder MONDO:0700092 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UBR7 G2P01524 UBR7-related intellectual developmental disorder MONDO:0030963 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UBTF G2P02218 UBTF-related childhood-onset neurodegeneration MONDO:0044701 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UFC1 G2P02544 UFC1-related severe early-onset encephalopathy with progressive microcephaly MONDO:0060752 definitive undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UFM1 G2P02543 UFM1-related severe early-onset encephalopathy with progressive microcephaly MONDO:0033486 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UFSP2 G2P03164 UFSP2-related developmental delay and epilepsy MONDO:0031052 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UGGT1 G2P03737 UGGT1-related congenital disorder of glycosylation with neurodevelopmental impairment MONDO:0015286 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UGP2 G2P02926 UGP2-related epileptic encephalopathy MONDO:0032895 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UHRF1 G2P03457 UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0000133 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UMPS G2P00538 UMPS-related orotic aciduria MONDO:0009797 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UNC119 G2P02277 UNC119-related cone-rod dystrophy MONDO:0015993 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UNC13A G2P03909 UNC13A-related congenital epileptic encephalopathy and severe neuromuscular disorder MONDO:0100038 moderate loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UNC13A G2P03905 UNC13A-related neurodevelopmental disorder with ataxia and tremor or dyskinetic movements MONDO:0100038 moderate gain of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UNC45A G2P03323 UNC45A-related osteootohepatoenteric syndrome MONDO:0859164 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UNC45B G2P02276 UNC45B-related cataract MONDO:0014565 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UNC45B G2P03074 UNC45B-related progressive myopathy with eccentric cores MONDO:0030927 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UNC79 G2P03702 UNC79-related intellectual disability with focal motor seizures limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UNC80 G2P01717 UNC80-related persistent hypotonia, encephalopathy, growth retardation, and severe intellectual disability MONDO:0014777 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UPF1 G2P02900 UPF1-related developmental disorder MONDO:0700092 moderate loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UPF3B G2P00794 UPF3B-related syndromic intellectual developmental disorder MONDO:0010398 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UQCRB G2P01619 UQCRB-related mitochondrial respiratory chain complex III deficiency MONDO:0014064 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UQCRFS1 G2P02924 UQCRFS1-related mitochondrial complex III deficiency, cardiomyopathy, and alopecia totalis MONDO:0032909 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UQCRQ G2P01004 UQCRQ-related mitochondrial respiratory chain complex III deficiency MONDO:0014065 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UROC1 G2P01370 UROC1-related urocanase deficiency MONDO:0010167 disputed undetermined 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UROS G2P01208 UROS-related congenital erythropoietic porphyria MONDO:0009902 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. USB1 G2P01645 USB1-related poikiloderma with neutropenia MONDO:0011405 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. USH1C G2P02275 USH1C-related Usher syndrome MONDO:0010171 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. USH1G G2P02274 USH1G-related Usher syndrome MONDO:0011748 definitive loss of function 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. USH2A G2P02273 USH2A-related Usher syndrome MONDO:0010169 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. USP14 G2P03307 USP14-related syndromic neurodevelopmental disorder with arthrogryposis MONDO:0100038 moderate undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. USP18 G2P01789 USP18-related severe pseudo-TORCH syndrome MONDO:0018828 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. USP27X G2P02012 USP27X-related intellectual disability MONDO:0010510 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. USP45 G2P02578 USP45-related Leber congenital amaurosis MONDO:0032794 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. USP7 G2P02909 USP7-related developmental disorder MONDO:0958071 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. USP9X G2P02844 USP9X-related intellectual developmental disorder (hemizygous) MONDO:0010502 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. USP9X G2P00653 USP9X-related intellectual developmental disorder (heterozygous) MONDO:0010502 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UTP4 G2P01510 UTP4-related North American Indian childhood cirrhosis MONDO:0011497 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. UVSSA G2P00425 UVSSA-related UV-sensitive syndrome MONDO:0013834 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VAC14 G2P01753 VAC14-related progressive neurological disorder and regression of developmental milestones limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VAMP2 G2P02785 VAMP2-related intellectual disability MONDO:0032900 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VANGL1 G2P00383 VANGL1-related neural tube defects MONDO:0020705 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VAX1 G2P02272 VAX1-related microphthalmia, syndromic MONDO:0013734 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VIM G2P02271 VIM-related congenital cataract MONDO:0005129 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VIP G2P01551 VIP-related Asperger MONDO:0005259 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VIPAS39 G2P01606 VIPAS39-related arthrogryposis, renal dysfunction, and cholestasis MONDO:0013255 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VLDLR G2P00973 VLDLR-related cerebellar ataxia, intellectual developmental disorder, and dysequilibrium syndrome MONDO:0024542 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VMA12 G2P01719 VMA12-related congenital disorder of glycosylation MONDO:0014790 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VMA22 G2P01718 VMA22-related disorder of Golgi homeostasis definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VPS13B G2P00180 VPS13B-related Cohen syndrome MONDO:0008999 definitive loss of function 23 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VPS33B G2P01328 VPS33B-related arthrogryposis, renal dysfunction, and cholestasis MONDO:0008822 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VPS33B G2P03639 VPS33B-related keratoderma-ichthyosis-deafness syndrome MONDO:0859278 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VPS4A G2P03077 VPS4A-related CIMDAG Syndrome (biallelic) MONDO:0035819 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VPS4A G2P03076 VPS4A-related CIMDAG Syndrome (monoallelic) MONDO:0035819 definitive dominant negative 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VPS53 G2P02605 VPS53-related progressive cerebello-cerebral atrophy MONDO:0014370 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VRK1 G2P00330 VRK1-related pontocerebellar hypoplasia MONDO:0011866 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VSX1 G2P02269 VSX1-related craniofacial anomalies and anterior segment dysgenesis syndrome MONDO:0013618 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VSX1 G2P02270 VSX1-related keratoconus MONDO:0007851 limited undetermined 0 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VSX2 G2P00539 VSX2-related microphthalmia isolated MONDO:0012409 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. VSX2 G2P00064 VSX2-related microphthalmia with cataracts and iris abnormalities MONDO:0012408 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WAC G2P01715 WAC-related Desanto-Shinawi syndrome MONDO:0014741 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WARS1 G2P03393 WARS1-related distal hereditary motor neuropathy MONDO:0018894 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WARS1 G2P03394 WARS1-related neurodevelopmental syndrome MONDO:0957218 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WASF1 G2P02611 WASF1-related intellectual disability with seizures MONDO:0032876 moderate loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WASF1 G2P03736 WASF1-related neurodevelopmental disorder MONDO:0700092 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WASHC5 G2P03208 WASHC5-related intellectual disability, congenital cardiac malformation, and Dandy-Walker malformation MONDO:0009073 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WBP4 G2P03724 WBP4-related neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities MONDO:0971043 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDFY3 G2P02796 WDFY3-related primary microcephaly or macrocephaly with developmental delay MONDO:0100038 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDPCP G2P01051 WDPCP-related Bardet-Biedl syndrome MONDO:0014443 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDR11 G2P03182 WDR11-related intellectual disability and microcephaly MONDO:0859373 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDR19 G2P00517 WDR19-related cranioectodermal dysplasia MONDO:0013719 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDR19 G2P00988 WDR19-related short-rib thoracic dysplasia with or without polydactyly MONDO:0013717 definitive undetermined 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDR26 G2P02078 WDR26-related intellectual disability, seizures, abnormal gait, and distinctive facial features MONDO:0054636 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDR35 G2P00256 WDR35-related cranioectodermal dysplasia MONDO:0013323 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDR37 G2P02760 WDR37-related syndromic intellectual disability MONDO:0032850 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDR4 G2P02819 WDR4-related Galloway-Mowat syndrome MONDO:0032691 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDR44 G2P03758 WDR44-related ciliopathy MONDO:0005308 moderate gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDR45 G2P00570 WDR45-related neurodegeneration with brain iron accumulation MONDO:0010476 definitive loss of function 33 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDR45B G2P00898 WDR45B-related intellectual developmental disorder moderate undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDR5 G2P03417 WDR5-related neurodevelopmental disorder MONDO:0700092 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDR62 G2P01287 WDR62-related microcephaly, cortical malformations, and intellectual developmental disorder MONDO:0011435 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDR73 G2P00861 WDR73-related Galloway-Mowat Syndrome: microcephaly and steroid-resistant nephrotic syndrome MONDO:0033005 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDR81 G2P01695 WDR81-related cerebellar ataxia, intellectual developmental disorder, and dysequilibrium syndrome MONDO:0012430 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDR83OS G2P03782 WDR83OS-related neurodevelopmental disorder with hypercholanemia MONDO:0975877 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WDR87 G2P01961 WDR87-related congenital cataract MONDO:0005129 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WHRN G2P02024 WHRN-related Usher syndrome MONDO:0012662 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WIPI2 G2P03720 WIPI2-related neurodevelopmental disorder with white matter loss and hypoplasia of vermis and corpus callosum MONDO:0032759 moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WNK1 G2P02696 WNK1-related neuropathy, hereditary sensory and autonomic MONDO:0024309 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WNK3 G2P03325 WNK3-related neurodevelopmental disorder MONDO:0010667 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WNT1 G2P00836 WNT1-related osteogenesis imperfecta MONDO:0014086 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WNT10B G2P00363 WNT10B-related split-hand/foot malformation MONDO:0009157 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WNT3 G2P00431 WNT3-related tetra-amelia syndrome MONDO:0060764 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WNT5A G2P01061 WNT5A-related Robinow syndrome MONDO:0024455 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WNT7A G2P00391 WNT7A- related skeletal malformations syndrome definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WNT7B G2P03494 WNT7B-related PDAC syndrome moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WRAP53 G2P00718 WRAP53-related dyskeratosis congenita MONDO:0013520 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WRN G2P01836 WRN-related Werner syndrome MONDO:0010196 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WWOX G2P00594 WWOX-related epileptic encephalopathy, early infantile MONDO:0014533 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. WWOX G2P00332 WWOX-related spinocerebellar ataxia MONDO:0013687 strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. XPA G2P01466 XPA-related xeroderma pigmentosum MONDO:0010210 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. XPC G2P00049 XPC-related xeroderma pigmentosum MONDO:0010211 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. XPNPEP3 G2P01478 XPNPEP3-related nephronophthisis-like nephropathy MONDO:0013163 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. XPO1 G2P03912 XPO1-related neurodevelopmental disorder with microcephaly moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. XRCC4 G2P00135 XRCC4-related primordial dwarfism MONDO:0014686 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. XYLT1 G2P00103 XYLT1-related Desbuquois dysplasia MONDO:0014343 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. XYLT2 G2P01672 XYLT2-related spondyloocular syndrome MONDO:0011604 strong loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. YAP1 G2P00008 YAP1-related coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual developmental disorder MONDO:0007355 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. YARS2 G2P02954 YARS2-related myopathy, lactic acidosis, and sideroblastic anemia MONDO:0013307 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. YRDC G2P03204 YRDC-related nephrotic syndrome and microcephaly MONDO:0030476 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. YWHAE G2P03474 YWHAE-related developmental delay, seizures, hypotonia and brain abnormalities moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. YWHAG G2P02221 YWHAG-related early-onset epilepsy MONDO:0018614 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. YWHAZ G2P03510 YWHAZ-related developmental delay with simplified gyral pattern limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. YY1 G2P00744 YY1-related intellectual disability MONDO:0044738 definitive undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZBTB11 G2P03546 ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder MONDO:0032715 strong loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZBTB16 G2P00630 ZBTB16-related skeletal defects, genital hypoplasia, and intellectual developmental disorder MONDO:0012909 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZBTB18 G2P01714 ZBTB18-related intellectual developmental disorder MONDO:0012869 definitive loss of function 6 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZBTB20 G2P01603 ZBTB20-related Primrose syndrome MONDO:0009798 definitive dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZBTB40 G2P00918 ZBTB40-related intellectual developmental disorder MONDO:0700092 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZBTB47 G2P03548 ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZBTB7A G2P03037 ZBTB7A-related developmental disorder MONDO:0859231 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZC4H2 G2P00681 ZC4H2-related arthrogryposis multiplex congenita and intellectual disability MONDO:0026762 definitive loss of function 7 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZC4H2 G2P02851 ZC4H2-related arthrogryposis multiplex congenita and intellectual disability MONDO:0026762 definitive loss of function 9 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZCCHC8 G2P01249 ZCCHC8-related intellectual developmental disorder MONDO:0700092 refuted loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZDHHC15 G2P00490 ZDHHC15-related intellectual developmental disorder MONDO:0010363 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZDHHC9 G2P00509 ZDHHC9-related syndromic intellectual developmental disorder MONDO:0010427 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZEB1 G2P00091 ZEB1-related corneal dystrophy Fuchs endothelial MONDO:0013206 limited loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZEB1 G2P02023 ZEB1-related corneal dystrophy, posterior polymorphous MONDO:0012200 definitive loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZFHX3 G2P02901 ZFHX3-related neurodevelopmental disorder moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZFHX4 G2P02902 ZFHX4-related developmental disorder MONDO:0700092 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZFP57 G2P00441 ZFP57-related diabetes mellitus, transient neonatal MONDO:0011073 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZFTRAF1 G2P03563 ZFTRAF1-related neurodevelopmental disorder MONDO:0700092 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZFX G2P03559 ZFX-related neurodevelopmental disorder with hypotonia, congenital anomalies and facial dysmorphism with or without hyperparathyroidism moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZFYVE19 G2P03195 ZFYVE19-related congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis MONDO:0030800 definitive loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZFYVE26 G2P00253 ZFYVE26-related spastic paraplegia MONDO:0010044 definitive loss of function 4 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZIC1 G2P01677 ZIC1-related craniosynostosis MONDO:0014705 definitive gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZIC2 G2P00564 ZIC2-related holoprosencephaly MONDO:0012322 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZIC3 G2P01635 ZIC3-related heterotaxy syndrome MONDO:0010607 definitive loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZIC3 G2P00464 ZIC3-related VACTERL association with or without hydrocephalus MONDO:0010752 definitive undetermined 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZMIZ1 G2P02640 ZMIZ1-related syndromic neurodevelopmental disorder MONDO:0032855 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZMPSTE24 G2P00442 ZMPSTE24-related lethal restrictive dermopathy MONDO:0800042 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZMYM2 G2P02903 ZMYM2-related developmental disorder MONDO:0859190 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZMYM3 G2P03426 ZMYM3-related neurodevelopmental disorder MONDO:0957496 moderate undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZMYM6 G2P00985 ZMYM6-related intellectual disability MONDO:0001071 limited loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZMYND10 G2P00922 ZMYND10-related primary ciliary dyskinesia MONDO:0014192 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZMYND11 G2P01644 ZMYND11-related intellectual disability MONDO:0014486 strong loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZMYND8 G2P03372 ZMYND8-related neurodevelopmental disorder MONDO:0700092 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNF142 G2P03008 ZNF142-related neurodevelopmental disorder MONDO:0032741 strong loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNF148 G2P02904 ZNF148-related neurodevelopmental disorder MONDO:0014994 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNF292 G2P02871 ZNF292-related developmental disorder MONDO:0030934 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNF335 G2P03774 ZNF335-related microcephaly, epilepsy, cerebral and/or cerebellar atrophy and short stature MONDO:0014043 strong loss of function 8 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNF407 G2P03027 ZNF407-related neurodevelopmental disorder MONDO:0859198 limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNF408 G2P01915 ZNF408-related exudative vitreoretinopathy MONDO:0014652 strong dominant negative 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNF408 G2P01916 ZNF408-related retinitis pigmentosa MONDO:0014653 strong undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNF423 G2P02022 ZNF423-related Joubert syndrome strong undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNF462 G2P02077 ZNF462-related craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay MONDO:0032836 strong loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNF469 G2P02352 ZNF469-related brittle cornea syndrome MONDO:0024543 definitive loss of function 3 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNF513 G2P01920 ZNF513-related retinitis pigmentosa limited undetermined 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNF526 G2P00665 ZNF526-related intellectual developmental disorder MONDO:0859251 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNF699 G2P03682 ZNF699-related developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities (DEGCAGS syndrome) MONDO:0859181 moderate loss of function 5 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNF711 G2P00292 ZNF711-related intellectual developmental disorder MONDO:0010430 definitive loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNF713 G2P01264 ZNF713-related autism MONDO:0005260 limited undetermined 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNF750 G2P00792 ZNF750-related seborrhea-like dermatitis with psoriasiform elements MONDO:0012446 moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNF808 G2P03518 ZNF808-related pancreatic agenesis moderate loss of function 2 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZNRF3 G2P03706 ZNRF3-related neurodevelopmental disorder with macrocephaly MONDO:0100038 moderate dominant negative 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZSCAN10 G2P03562 ZSCAN10-related neurodevelopmental disorder with oto-facial malformations moderate loss of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ZSWIM6 G2P01314 ZSWIM6-related acromelic frontonasal dysostosis MONDO:0011359 strong gain of function 1 0 0 0 0 0 0 NO_DISMECH_MATCH CRITICAL ADD_FIRST_GENE_DISEASE_ANCHOR No dismech disease anchor currently represents this G2P row. ATM G2P03403 ATM-related cancer definitive loss of function 2 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. ATP1A2 G2P03431 ATP1A2-related epileptic encephalopathy MONDO:0030472 moderate gain of function 1 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. ATP1A2 G2P03018 ATP1A2-related migraine, familial hemiplegic MONDO:0011232 definitive loss of function 2 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. ATP1A2 G2P03432 ATP1A2-related neuronal migration disorder with epilepsy MONDO:0859204 strong undetermined 3 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. BICRA G2P03075 BICRA-related developmental disorder MONDO:0025699 strong loss of function 1 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. CARD14 G2P03685 CARD14-related pityriasis rubra pilaris MONDO:0008251 definitive undetermined 2 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. CARD14 G2P02674 CARD14-related psoriasis susceptibilty MONDO:0011269 definitive gain of function 1 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. CEP120 G2P02398 CEP120-related ciliopathy syndrome MONDO:0005308 definitive loss of function 2 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. CISD2 G2P01607 CISD2-related Wolfram syndrome MONDO:0011502 definitive loss of function 4 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. EIF2AK3 G2P01637 EIF2AK3-related Wolcott-Rallison syndrome MONDO:0009192 definitive loss of function 4 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. ELOVL4 G2P00676 ELOVL4-related ichthyosis, spastic quadriplegia, and intellectual developmental disorder MONDO:0013760 definitive loss of function 3 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. EXPH5 G2P00089 EXPH5-related inherited skin fragility MONDO:0014014 strong loss of function 3 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. FGFR2 G2P01005 FGFR2-related Jackson-Weiss syndrome MONDO:0007400 definitive gain of function 2 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. FGFR3 G2P00944 FGFR3-related achondroplasia MONDO:0007037 definitive gain of function 13 1 0 pathophysiology_only Achondroplasia.yaml Achondroplasia MONDO:0007037 exact_mondo;gene_related_prefix_stripped 4 2 3 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. FGFR3 G2P00864 FGFR3-related Crouzon syndrome with acanthosis nigricans MONDO:0012833 definitive gain of function 8 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. FGFR3 G2P01257 FGFR3-related hypochondroplasia MONDO:0007793 definitive gain of function 7 1 0 pathophysiology_only Hypochondroplasia.yaml Hypochondroplasia MONDO:0007793 exact_mondo;gene_related_prefix_stripped 2 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. FGFR3 G2P00012 FGFR3-related lacrimo-auriculo-dento-digital syndrome (LADD) MONDO:0859577 definitive undetermined 2 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. FGFR3 G2P01321 FGFR3-related thanatophoric dysplasia, type 1 MONDO:0008546 definitive gain of function 10 1 0 pathophysiology_only Thanatophoric_Dysplasia_Type_1.yaml Thanatophoric Dysplasia Type 1 MONDO:0008546 exact_mondo;gene_related_prefix_stripped 6 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. FGFR3 G2P01101 FGFR3-related thanatophoric dysplasia, type 2 MONDO:0008547 definitive gain of function 1 1 0 pathophysiology_only Thanatophoric_Dysplasia_Type_2.yaml Thanatophoric Dysplasia Type 2 MONDO:0008547 exact_mondo;gene_related_prefix_stripped 5 0 1 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. FMR1 G2P00567 FMR1-related fragile X tremor/ataxia syndrome MONDO:0010382 definitive gain of function 2 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. FMR1 G2P01340 FMR1-related premature ovarian failure syndrome MONDO:0010706 definitive undetermined 6 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. GABRA1 G2P01444 GABRA1-related epileptic encephalopathy MONDO:0014328 strong undetermined 1 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. GJB2 G2P03688 GJB2-related keratitis-ichthyosis-deafness syndrome moderate undetermined 2 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. GJB2 G2P02317 GJB2-related keratoderma, palmoplantar, with deafness MONDO:0007852 definitive undetermined 5 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. GJB2 G2P02316 GJB2-related knuckle pads, leuconychia and sensorineural deafness MONDO:0007866 definitive undetermined 2 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. GMPPB G2P00893 GMPPB-related muscular dystrophy-dystroglycanopathy MONDO:0014140 definitive undetermined 14 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. GRN G2P02127 GRN-related ceroid lipofuscinosis, neuronal MONDO:0013866 strong loss of function 0 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. HNF4A G2P01592 HNF4A-related atypical Fanconi syndrome with maturity-onset diabetes of the young (MODY) MONDO:0014458 strong undetermined 1 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. HNF4A G2P00999 HNF4A-related maturity-onset diabetes of the young (MODY) MONDO:0007452 definitive loss of function 24 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. HYLS1 G2P00504 HYLS1-related hydrolethalus syndrome MONDO:0009365 definitive undetermined 3 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. KIF5B G2P03463 KIF5B-related disease moderate undetermined 2 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. KMT2D G2P02956 KMT2D-related multiple malformations syndrome (BCAHH) MONDO:0035651 definitive undetermined 3 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. MYOC G2P02006 MYOC-related glaucoma, primary open angle MONDO:0007664 definitive loss of function 4 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. MYOC G2P02004 MYOC-related juvenile open angle glaucoma MONDO:0020367 definitive undetermined 7 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. NOTCH3 G2P01542 NOTCH3-related infantile myofibromatosis MONDO:0014122 limited gain of function 2 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. NPHP3 G2P02824 NPHP3-related Senior-Loken syndrome MONDO:0017842 definitive undetermined 0 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. OFD1 G2P02183 OFD1-related retinitis pigmentosa MONDO:0010320 strong undetermined 0 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. POMK G2P03043 POMK-related muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies MONDO:0014101 definitive loss of function 4 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. PPP2CA G2P02639 PPP2CA-related syndromic intellectual disability resembling other PP2A related neurodevelopmental disorders MONDO:0032697 strong loss of function 1 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. PROM1 G2P02241 PROM1-related macular dystrophy MONDO:0011957 definitive undetermined 4 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. PROM1 G2P02240 PROM1-related retinitis pigmentosa MONDO:0012796 definitive loss of function 0 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. PRPH2 G2P02252 PRPH2-related Leber congenital amaurosis MONDO:0018998 definitive loss of function 2 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. PRPH2 G2P02254 PRPH2-related macular dystrophy MONDO:0020242 definitive undetermined 0 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. PRPH2 G2P02253 PRPH2-related retinitis pigmentosa MONDO:0011974 definitive undetermined 1 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. RBM20 G2P03878 RBM20-related hypertrophic cardiomyopathy MONDO:0024573 limited undetermined 1 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. SCN2A G2P00033 SCN2A-related nonspecific severe intellectual disability MONDO:0001071 definitive loss of function 1 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. SDHB G2P01824 SDHB-related gastrointestinal stromal tumor MONDO:0011719 definitive loss of function 12 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. SDHB G2P01825 SDHB-related paraganglioma and gastric stromal sarcoma definitive loss of function 2 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. SDHB G2P02744 SDHB-related pheochromocytoma MONDO:0008233 definitive gain of function 2 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. SLC37A4 G2P03148 SLC37A4-related congenital disorder of glycosylation with liver dysfunction MONDO:0030437 definitive loss of function 2 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. SLC4A1 G2P00185 SLC4A1-related renal tubular acidosis, distal (biallelic) MONDO:0008368 strong undetermined 3 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. SLC4A1 G2P00171 SLC4A1-related renal tubular acidosis, distal (monoallelic) MONDO:0008368 strong undetermined 3 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. SMAD4 G2P01045 SMAD4-related Myhre syndrome MONDO:0007688 definitive gain of function 4 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. SMARCA4 G2P01446 SMARCA4-related rhabdoid tumor predisposition syndrome MONDO:0013224 definitive loss of function 3 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. SMARCB1 G2P00265 SMARCB1-related rhabdoid tumor predisposition syndrome MONDO:0012252 definitive loss of function 3 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. SMARCB1 G2P01845 SMARCB1-related schwannomatosis MONDO:0024517 definitive loss of function 4 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. SMARCE1 G2P03353 SMARCE1-related meningioma, familial MONDO:0011789 definitive loss of function 1 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. SOX9 G2P00068 SOX9-related Pierre Robin sequence MONDO:0009869 definitive undetermined 4 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. TCTN2 G2P00167 TCTN2-related Joubert syndrome and related disorders MONDO:0014724 strong loss of function 4 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. TMEM237 G2P00474 TMEM237-related Joubert syndrome MONDO:0013745 definitive loss of function 3 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. TPM3 G2P03244 TPM3-related congenital myopathy MONDO:0800341 definitive undetermined 2 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. WFS1 G2P03006 WFS1-related Wolfram syndrome (biallelic) MONDO:0013673 definitive loss of function 38 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. WFS1 G2P03007 WFS1-related Wolfram-like syndrome (monoallelic) MONDO:0013673 definitive undetermined 12 0 0 0 0 0 0 UNDERREPRESENTED_IN_DISMECH HIGH ADD_MISSING_DISEASE_ROOT dismech has some direct roots for the gene, but this disease row is still missing. COL17A1 G2P02750 COL17A1-related epidermolysis bullosa junctional (atrophic benign) MONDO:0030750 definitive loss of function 2 0 0 0 0 0 Junctional Epidermolysis Bullosa;Epidermolysis Bullosa 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Junctional Epidermolysis Bullosa, Epidermolysis Bullosa. COL17A1 G2P02195 COL17A1-related epithelial recurrent erosion dystrophy MONDO:0007381 definitive undetermined 3 0 0 0 0 0 0 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: . COL7A1 G2P02066 COL7A1-related epidermolysis bullosa dystrophica MONDO:0009179 definitive loss of function 5 0 0 0 0 0 Dystrophic Epidermolysis Bullosa;Epidermolysis Bullosa 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa. COL7A1 G2P02685 COL7A1-related epidermolysis bullosa dystrophica MONDO:0009179 definitive dominant negative 1 0 0 0 0 0 Dystrophic Epidermolysis Bullosa;Epidermolysis Bullosa 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa. COL7A1 G2P02752 COL7A1-related epidermolysis bullosa pruriginosa MONDO:0011398 definitive dominant negative 1 0 0 0 0 0 Dystrophic Epidermolysis Bullosa;Epidermolysis Bullosa 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa. COL7A1 G2P02664 COL7A1-related epidermolysis bullosa, Bart type MONDO:0007557 definitive dominant negative 1 0 0 0 0 0 Dystrophic Epidermolysis Bullosa;Epidermolysis Bullosa 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa. ITGA6 G2P03906 ITGA6-related epidermolysis bullosa with pyloric atresia MONDO:0859233 limited loss of function 1 0 0 0 0 0 Junctional Epidermolysis Bullosa;Epidermolysis Bullosa 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Junctional Epidermolysis Bullosa, Epidermolysis Bullosa. ITGB4 G2P02751 ITGB4-related epidermolysis bullosa junctional MONDO:0009183 strong loss of function 2 0 0 0 0 0 Junctional Epidermolysis Bullosa;Epidermolysis Bullosa 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Junctional Epidermolysis Bullosa, Epidermolysis Bullosa. KRT14 G2P02679 KRT14-related epidermolysis bullosa simplex generalised intermediate (Köbner) definitive dominant negative 1 0 0 0 0 0 Epidermolysis Bullosa;Epidermolysis Bullosa Simplex 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Epidermolysis Bullosa, Epidermolysis Bullosa Simplex. KRT14 G2P02681 KRT14-related epidermolysis bullosa simplex generalised severe (Dowling-Meara) definitive dominant negative 1 0 0 0 0 0 Epidermolysis Bullosa;Epidermolysis Bullosa Simplex 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Epidermolysis Bullosa, Epidermolysis Bullosa Simplex. KRT14 G2P02676 KRT14-related epidermolysis bullosa simplex localised (Weber Cockayne) definitive dominant negative 1 0 0 0 0 0 Epidermolysis Bullosa;Epidermolysis Bullosa Simplex 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Epidermolysis Bullosa, Epidermolysis Bullosa Simplex. KRT5 G2P02476 KRT5-related Dowling-Degos disease MONDO:0008371 definitive loss of function 2 0 0 0 0 0 0 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: . KRT5 G2P02682 KRT5-related epidermolysis bullosa simplex (Mottled pigmentation) MONDO:0007556 definitive dominant negative 1 0 0 0 0 0 Epidermolysis Bullosa;Epidermolysis Bullosa Simplex 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Epidermolysis Bullosa, Epidermolysis Bullosa Simplex. KRT5 G2P02678 KRT5-related epidermolysis bullosa simplex generalised intermediate (Köbner) definitive dominant negative 1 0 0 0 0 0 Epidermolysis Bullosa;Epidermolysis Bullosa Simplex 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Epidermolysis Bullosa, Epidermolysis Bullosa Simplex. KRT5 G2P02680 KRT5-related epidermolysis bullosa simplex generalised severe (Dowling-Meara) definitive dominant negative 1 0 0 0 0 0 Epidermolysis Bullosa;Epidermolysis Bullosa Simplex 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Epidermolysis Bullosa, Epidermolysis Bullosa Simplex. KRT5 G2P02675 KRT5-related epidermolysis bullosa simplex localised (Weber cockayne) definitive dominant negative 2 0 0 0 0 0 Epidermolysis Bullosa Simplex;Epidermolysis Bullosa 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Epidermolysis Bullosa Simplex, Epidermolysis Bullosa. LAMA3 G2P02668 LAMA3-related laryngoonychocutaneous syndrome MONDO:0009513 definitive loss of function 4 0 0 0 0 0 Junctional Epidermolysis Bullosa;Epidermolysis Bullosa 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Junctional Epidermolysis Bullosa, Epidermolysis Bullosa. LAMB3 G2P02686 LAMB3-related epidermolysis bullosa junctional (lethal Herlitz) definitive loss of function 4 0 0 0 0 0 Junctional Epidermolysis Bullosa;Epidermolysis Bullosa 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Junctional Epidermolysis Bullosa, Epidermolysis Bullosa. LAMC2 G2P02687 LAMC2-related epidermolysis bullosa junctional (lethal Herlitz) definitive loss of function 2 0 0 0 0 0 Junctional Epidermolysis Bullosa;Epidermolysis Bullosa 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Junctional Epidermolysis Bullosa, Epidermolysis Bullosa. LMNA G2P03794 LMNA-related arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 limited undetermined 1 0 0 0 0 0 0 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: . LMNA G2P00674 LMNA-related Charcot-Marie-Tooth disease MONDO:0011569 limited undetermined 3 0 0 0 0 0 0 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: . LMNA G2P00599 LMNA-related familial partial lipodystrophy MONDO:0007906 definitive undetermined 3 0 0 0 0 0 0 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: . LMNA G2P02320 LMNA-related lethal tight skin contracture syndrome MONDO:0030781 limited gain of function 0 0 0 0 0 0 0 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: . LMNA G2P02748 LMNA-related restrictive dermopathy, lethal MONDO:0030781 definitive loss of function 1 0 0 0 0 0 0 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: . MECP2 G2P01023 MECP2-related duplication syndrome MONDO:0010283 definitive undetermined 8 0 0 0 0 0 MECP2 Duplication Syndrome;Rett Syndrome 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: MECP2 Duplication Syndrome, Rett Syndrome. MECP2 G2P01392 MECP2-related encephalopathy neonatal severe MONDO:0010397 definitive loss of function 13 0 0 0 0 0 MECP2 Duplication Syndrome;Rett Syndrome 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: MECP2 Duplication Syndrome, Rett Syndrome. MKS1 G2P01039 MKS1-related Bardet-Biedl syndrome MONDO:0014441 definitive loss of function 2 0 0 0 0 0 Joubert syndrome;Meckel Syndrome 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Joubert syndrome, Meckel Syndrome. MYH7 G2P03796 MYH7-related arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 limited undetermined 1 0 0 0 0 0 0 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: . MYH7 G2P03300 MYH7-related hypertrophic cardiomyopathy MONDO:0008647 definitive undetermined 17 1 0 secondary_genetic Hypertrophic_Cardiomyopathy.yaml Hypertrophic Cardiomyopathy MONDO:0005045 gene_related_prefix_stripped 0 1 1 0 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: . PIK3CA G2P00872 PIK3CA-related overgrowth spectrum disorder with or without megalencephaly, capillary malformation, polymicrogyria and lipomatous overgrowth MONDO:0100283 definitive gain of function 39 0 0 0 0 0 CLOVES Syndrome;Cowden Syndrome 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: CLOVES Syndrome, Cowden Syndrome. SLC26A2 G2P00799 SLC26A2-related achondrogenesis MONDO:0010966 definitive loss of function 7 0 0 0 0 0 Atelosteogenesis Type II;Diastrophic Dysplasia 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Atelosteogenesis Type II, Diastrophic Dysplasia. SLC26A2 G2P01002 SLC26A2-related multiple epiphyseal dysplasia MONDO:0009189 definitive undetermined 6 0 0 0 0 0 Diastrophic Dysplasia;Atelosteogenesis Type II 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Diastrophic Dysplasia, Atelosteogenesis Type II. SUFU G2P03224 SUFU-related Joubert and congenital ocular motor apraxia MONDO:0700092 strong undetermined 2 0 0 0 0 0 0 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: . SUFU G2P02372 SUFU-related Joubert syndrome with cranio-facial and skeletal defects MONDO:0033309 strong undetermined 1 0 0 0 0 0 0 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: . SUFU G2P01837 SUFU-related medulloblastoma, associated with Gorlin syndrome definitive loss of function 1 0 0 0 0 0 SUFU-related nevoid basal cell carcinoma syndrome;Gorlin Syndrome 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: SUFU-related nevoid basal cell carcinoma syndrome, Gorlin Syndrome. TMEM67 G2P00463 TMEM67-related COACH syndrome MONDO:0800103 definitive loss of function 2 0 0 0 0 0 Joubert syndrome;Meckel Syndrome 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Joubert syndrome, Meckel Syndrome. TMEM67 G2P01430 TMEM67-related nephronophthisis MONDO:0013302 definitive undetermined 1 0 0 0 0 0 Joubert syndrome;Meckel Syndrome 2 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: Joubert syndrome, Meckel Syndrome. TTN G2P03802 TTN-related arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 limited undetermined 1 0 0 0 0 0 0 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: . TTN G2P03863 TTN-related hypertrophic cardiomyopathy MONDO:0024573 limited undetermined 1 0 0 0 0 0 0 SPLIT_ACROSS_DISMECH HIGH RECONCILE_SPECTRUM_ROW_ACROSS_MULTIPLE_ROOTS Map the row against multiple direct roots: . ABCA4 G2P01944 ABCA4-related cone-rod dystrophy MONDO:0011395 definitive loss of function 15 0 0 0 0 0 Stargardt Disease 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Stargardt_Disease.yaml rather than rooted directly. ACADVL G2P01539 ACADVL-related very long chain acyl-CoA dehydrogenase deficiency MONDO:0008723 definitive loss of function 7 1 0 secondary_genetic VLCAD_Deficiency.yaml Very Long-Chain Acyl-CoA Dehydrogenase Deficiency MONDO:0008723 exact_mondo;gene_related_prefix_stripped 6 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ACAT1 G2P01349 ACAT1-related alpha-methylacetoacetic aciduria definitive loss of function 8 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ACTA2 G2P00398 ACTA2-related Moyamoya disease MONDO:0013542 strong undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ACTA2 G2P02357 ACTA2-related multisystemic smooth muscle dysfunction syndrome MONDO:0013452 definitive undetermined 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ACTC1 G2P03543 ACTC1-related distal arthrogryposis with congenital heart disease moderate loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ACTC1 G2P03278 ACTC1-related hypertrophic cardiomyopathy MONDO:0012799 definitive undetermined 9 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ACVRL1 G2P02502 ACVRL1-related hereditary haemorrhagic telangiectasia MONDO:0010880 definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ADAMTS2 G2P02482 ADAMTS2-related Ehlers-Danlos syndrome, dermatosparaxis type MONDO:0009161 definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. AGL G2P00333 AGL-related glycogen storage disease MONDO:0009291 definitive loss of function 10 1 0 pathophysiology_only Cori_Forbes_Disease.yaml Cori Forbes Disease MONDO:0009291 exact_mondo 6 0 2 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. AIRE G2P00741 AIRE-related autoimmune polyendocrinopathy syndrome MONDO:0009411 definitive loss of function 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ALK G2P03365 ALK-related neuroblastoma, susceptibility to MONDO:0013083 definitive gain of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ALMS1 G2P00881 ALMS1-related Alstrom syndrome MONDO:0008763 definitive loss of function 46 0 0 0 0 0 Diabetes mellitus 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Diabetes_Mellitus.yaml rather than rooted directly. ALPK3 G2P03289 ALPK3-related hypertrophic cardiomyopathy MONDO:0054838 strong loss of function 10 1 0 secondary_genetic Hypertrophic_Cardiomyopathy.yaml Hypertrophic Cardiomyopathy MONDO:0005045 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ALPK3 G2P03290 ALPK3-related hypertrophic cardiomyopathy MONDO:0054838 definitive undetermined 8 1 0 secondary_genetic Hypertrophic_Cardiomyopathy.yaml Hypertrophic Cardiomyopathy MONDO:0005045 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ALPL G2P00284 ALPL-related hypophosphatasia MONDO:0018570 definitive loss of function 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. AMER1 G2P00069 AMER1-related osteopathia striata with cranial sclerosis MONDO:0010310 strong loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. AMT G2P01477 AMT-related glycine encephalopathy MONDO:0958192 definitive loss of function 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. APC G2P01793 APC-related adenomatous polyposis coli definitive loss of function 27 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. APC G2P01792 APC-related desmoid disease, hereditary definitive undetermined 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. APOB G2P02706 APOB-related hypercholesterolaemia MONDO:0007751 definitive dominant negative 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. AR G2P00507 AR-related androgen insensitivity syndrome MONDO:0019154 definitive loss of function 8 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. AR G2P00499 AR-related spinal and bulb muscul atrophy definitive dominant negative 8 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ARG1 G2P00003 ARG1-related argininemia MONDO:0008814 definitive loss of function 5 1 0 pathophysiology_only Arginase_Deficiency.yaml Arginase Deficiency MONDO:0008814 exact_mondo 4 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ARID2 G2P01890 ARID2-related Coffin-Siris like disorder MONDO:0033492 strong loss of function 2 0 0 0 0 0 Coffin-Siris syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Coffin_Siris_Syndrome.yaml rather than rooted directly. ASL G2P00796 ASL-related argininosuccinate lyase deficiency MONDO:0008815 definitive loss of function 3 1 0 pathophysiology_only Argininosuccinic_Aciduria.yaml Argininosuccinic Aciduria MONDO:0008815 exact_mondo 6 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ASS1 G2P01326 ASS1-related citrullinemia MONDO:0008988 definitive loss of function 6 1 0 pathophysiology_only Citrullinemia_Type_I.yaml Citrullinemia Type I MONDO:0008988 exact_mondo 0 1 1 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ASXL1 G2P01627 ASXL1-related Bohring-Opitz syndrome MONDO:0011510 definitive loss of function 6 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ATP7A G2P02474 ATP7A-related cutis laxa/occipital Horn syndrome MONDO:0010572 definitive loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ATP7A G2P00700 ATP7A-related Menkes disease MONDO:0010651 definitive loss of function 12 1 0 secondary_genetic Menkes_Disease.yaml Menkes Disease MONDO:0010651 exact_mondo;gene_related_prefix_stripped 4 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ATP7A G2P00157 ATP7A-related spinal muscular atrophy, distal MONDO:0010338 definitive undetermined 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ATR G2P00004 ATR-related Seckel syndrome MONDO:0008869 strong loss of function 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ATRX G2P00782 ATRX-related alpha-thalassemia intellectual developmental disorder syndrome non-deletion type MONDO:0010519 definitive loss of function 13 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. AXIN1 G2P00854 AXIN1-related caudal duplication anomaly MONDO:0011928 limited undetermined 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. B3GALNT2 G2P00312 B3GALNT2-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A MONDO:0014071 definitive loss of function 2 0 0 0 0 0 Dystroglycanopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dystroglycanopathy.yaml rather than rooted directly. BAP1 G2P03243 BAP1-related neurodevelopmental syndrome MONDO:0859230 moderate undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. BAP1 G2P01794 BAP1-related tumor predisposition syndrome MONDO:0013692 definitive loss of function 8 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. BBS1 G2P00428 BBS1-related Bardet-Biedl syndrome MONDO:0008854 definitive loss of function 7 1 0 secondary_genetic Bardet-Biedl_Syndrome.yaml Bardet-Biedl Syndrome MONDO:0015229 gene_related_prefix_stripped 4 1 2 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. BBS2 G2P01303 BBS2-related Bardet-Biedl syndrome MONDO:0014432 definitive loss of function 4 1 0 secondary_genetic Bardet-Biedl_Syndrome.yaml Bardet-Biedl Syndrome MONDO:0015229 gene_related_prefix_stripped 4 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. BBS2 G2P02052 BBS2-related retinitis pigmentosa MONDO:0014692 definitive undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. BCL11A G2P00590 BCL11A-related intellectual disability definitive loss of function 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. BRAF G2P00833 BRAF-related cardiofaciocutaneous syndrome MONDO:0007265 definitive gain of function 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. BRAF G2P02309 BRAF-related LEOPARD syndrome MONDO:0013380 definitive gain of function 0 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. BRAF G2P02310 BRAF-related Noonan syndrome MONDO:0013379 definitive gain of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. BRCA1 G2P01796 BRCA1-related cancer definitive loss of function 17 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. BRCA1 G2P00119 BRCA1-related Fanconi anemia MONDO:0054748 strong loss of function 2 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. BRCA2 G2P01797 BRCA2-related cancer definitive loss of function 12 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. BRCA2 G2P00807 BRCA2-related Fanconi anemia MONDO:0011584 definitive loss of function 3 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 gene_related_prefix_stripped 4 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. BRIP1 G2P00027 BRIP1-related Fanconi anemia MONDO:0012187 definitive loss of function 1 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 gene_related_prefix_stripped 2 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. C1R G2P03634 C1R-related Ehlers-Danlos syndrome, periodontal type MONDO:0020684 definitive undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. C1S G2P03635 C1S-related Ehlers-Danlos syndrome, periodontal type MONDO:0014954 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CACNA1A G2P00626 CACNA1A-related epileptic encephalopathy MONDO:0014917 strong undetermined 7 0 0 0 0 0 CACNA1A-Related Disorder 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under CACNA1A_Related_Disorder.yaml rather than rooted directly. CACNA1C G2P03804 CACNA1C-related Brugada syndrome MONDO:0000453 disputed undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CACNA1C G2P03874 CACNA1C-related short QT syndrome MONDO:0000453 disputed undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CACNA1C G2P03309 CACNA1C-related Timothy syndrome MONDO:0010979 definitive gain of function 11 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CAV1 G2P00606 CAV1-related congenital generalized lipodystrophy MONDO:0012923 limited loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CBS G2P00828 CBS-related homocystinuria due to cystathionine beta-synthase deficiency MONDO:0009352 definitive loss of function 11 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CCDC39 G2P01495 CCDC39-related primary ciliary dyskinesia MONDO:0013434 definitive loss of function 1 1 0 secondary_genetic Primary_Ciliary_Dyskinesia.yaml Primary_Ciliary_Dyskinesia MONDO:0016575 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CCDC40 G2P01571 CCDC40-related primary ciliary dyskinesia MONDO:0013435 definitive loss of function 1 1 0 secondary_genetic Primary_Ciliary_Dyskinesia.yaml Primary_Ciliary_Dyskinesia MONDO:0016575 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CCNO G2P01049 CCNO-related primary ciliary dyskinesia MONDO:0014378 definitive loss of function 15 1 0 secondary_genetic Primary_Ciliary_Dyskinesia.yaml Primary_Ciliary_Dyskinesia MONDO:0016575 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CDH1 G2P01974 CDH1-related blepharo-cheiro-dontic syndrome MONDO:0054740 definitive undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CDH1 G2P01798 CDH1-related gastric cancer, familial diffuse, with or without cleft lip and/or palate MONDO:0100488 definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CDKL5 G2P01596 CDKL5-related epileptic encephalopathy, early infantile MONDO:0010396 definitive loss of function 11 0 0 0 0 0 Epilepsy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Epilepsy.yaml rather than rooted directly. CDKN2A G2P01800 CDKN2A-related melanoma, cutaneous malignant MONDO:0007964 definitive loss of function 17 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CHD2 G2P01420 CHD2-related epileptic encephalopathy MONDO:0014150 definitive loss of function 23 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CHD4 G2P01765 CHD4-related syndromic intellectual disability with or without congenital heart disease MONDO:0014946 definitive loss of function 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CHRNA1 G2P01593 CHRNA1-related multiple pterygium syndrome lethal type MONDO:0009668 strong loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CIC G2P01452 CIC-related neurodevelopmental disorder MONDO:0030910 strong loss of function 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. COL1A1 G2P02312 COL1A1-related arthrochalasia Ehlers-Danlos syndrome MONDO:0007525 definitive dominant negative 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. COL1A1 G2P00575 COL1A1-related Caffey disease MONDO:0007244 definitive undetermined 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. COL1A1 G2P02479 COL1A1-related classical Ehlers Danlos syndrome MONDO:0007522 definitive dominant negative 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. COL1A1 G2P00021 COL1A1-related osteogenesis imperfecta spectrum MONDO:0008148 definitive dominant negative 41 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. COL2A1 G2P00168 COL2A1-related achondrogenesis MONDO:0008702 definitive dominant negative 7 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. COL2A1 G2P00037 COL2A1-related Kniest dysplasia MONDO:0007987 definitive dominant negative 9 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. COL2A1 G2P01348 COL2A1-related spondyloepimetaphyseal dysplasia, Strudwick type MONDO:0008476 definitive dominant negative 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. COL2A1 G2P01513 COL2A1-related spondyloepiphyseal dysplasia congenita MONDO:0008471 definitive undetermined 16 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. COL2A1 G2P03087 COL2A1-related spondyloepiphyseal dysplasia congenita MONDO:0008471 definitive undetermined 8 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. COL2A1 G2P00798 COL2A1-related Stickler syndrome, non-syndromic ocular MONDO:0012287 definitive loss of function 17 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. COL3A1 G2P02313 COL3A1-related Ehlers-Danlos syndrome MONDO:0007524 definitive dominant negative 24 1 0 secondary_genetic Ehlers-Danlos_Syndrome.yaml Ehlers-Danlos Syndrome MONDO:0020066 gene_related_prefix_stripped 2 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. COL5A1 G2P02435 COL5A1-related classical Ehlers Danlos syndrome MONDO:0020066 definitive loss of function 4 1 0 secondary_genetic Ehlers-Danlos_Syndrome.yaml Ehlers-Danlos Syndrome MONDO:0020066 exact_mondo 3 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. COL5A2 G2P02480 COL5A2-related Ehlers-Danlos syndrome, classic type MONDO:0020066 definitive dominant negative 2 1 0 secondary_genetic Ehlers-Danlos_Syndrome.yaml Ehlers-Danlos Syndrome MONDO:0020066 exact_mondo 2 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CPS1 G2P01156 CPS1-related carbamoyl phosphate synthetase 1 deficiency MONDO:0009376 definitive loss of function 5 1 0 pathophysiology_only Carbamoyl_Phosphate_Synthetase_I_Deficiency.yaml Carbamoyl Phosphate Synthetase I Deficiency MONDO:0009376 exact_mondo 7 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CRPPA G2P00716 CRPPA-related Walker-Warburg syndrome MONDO:0013835 definitive loss of function 5 0 0 0 0 0 Dystroglycanopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dystroglycanopathy.yaml rather than rooted directly. CSNK2B G2P02855 CSNK2B-related Poirier-Bienvenu neurodevelopmental syndrome MONDO:0032889 definitive loss of function 10 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CSPP1 G2P01118 CSPP1-related Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy MONDO:0014288 definitive loss of function 5 0 0 0 0 0 Joubert syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Joubert_syndrome.yaml rather than rooted directly. CTCF G2P00485 CTCF-related intellectual disability definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CTNNB1 G2P01998 CTNNB1-related exudative vitreoretinopathy MONDO:0019516 definitive loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CTNNB1 G2P01263 CTNNB1-related intellectual developmental disorder definitive loss of function 7 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CTSB G2P03662 CTSB-related keratolytic winter erythema MONDO:0007854 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CXCR4 G2P02519 CXCR4-related warts, hypogammaglobulinaemia, infections and myelokathexis syndrome MONDO:8000006 definitive dominant negative 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CYBB G2P02464 CYBB-related chronic granulomatous disease MONDO:0010600 definitive loss of function 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. CYP24A1 G2P01762 CYP24A1-related 1,25-dihydroxyvitamin D-resistant rickets MONDO:0020739 limited loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. D2HGDH G2P01692 D2HGDH-related D-2-hydroxyglutaric aciduria MONDO:0024554 limited loss of function 1 1 0 pathophysiology_only D-2-Hydroxyglutaric_Aciduria.yaml D-2-Hydroxyglutaric Aciduria MONDO:0010924 gene_related_prefix_stripped 5 1 1 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. DAG1 G2P02436 DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies MONDO:0014683 definitive loss of function 4 0 0 0 0 0 Dystroglycanopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dystroglycanopathy.yaml rather than rooted directly. DAG1 G2P00925 DAG1-related muscular dystrophy-dystroglycanopathy limb-girdle MONDO:0013440 definitive undetermined 1 0 0 0 0 0 Dystroglycanopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dystroglycanopathy.yaml rather than rooted directly. DDX3X G2P02840 DDX3X-related intellectual developmental disorder definitive undetermined 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. DDX3X G2P00498 DDX3X-related intellectual disability MONDO:0010497 definitive loss of function 11 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. DEPDC5 G2P00304 DEPDC5-related familial focal epilepsy with variable foci MONDO:0024556 definitive loss of function 6 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. DLD G2P01256 DLD-related dihydrolipoamide dehydrogenase E3 deficiency MONDO:0009529 definitive loss of function 2 0 0 0 0 0 Maple Syrup Urine Disease 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Maple_Syrup_Urine_Disease.yaml rather than rooted directly. DMPK G2P00113 DMPK-related dystrophia myotonica MONDO:0008056 definitive dominant negative 5 1 0 secondary_genetic Myotonic_Dystrophy_Type_1.yaml Myotonic Dystrophy Type 1 MONDO:0008056 exact_mondo 3 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. DNAH5 G2P02007 DNAH5-related primary ciliary dyskinesia MONDO:0012085 strong loss of function 19 1 0 secondary_genetic Primary_Ciliary_Dyskinesia.yaml Primary_Ciliary_Dyskinesia MONDO:0016575 gene_related_prefix_stripped 2 1 1 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. DPF2 G2P02439 DPF2-related Coffin-Siris like disorder MONDO:0054831 strong dominant negative 2 0 0 0 0 0 Coffin-Siris syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Coffin_Siris_Syndrome.yaml rather than rooted directly. DPM1 G2P01296 DPM1-related congenital disorder of glycosylation MONDO:0012123 definitive loss of function 2 0 0 0 0 0 Dystroglycanopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dystroglycanopathy.yaml rather than rooted directly. DPM3 G2P00301 DPM3-related congenital disorder of glycosylation MONDO:0013049 strong loss of function 2 0 0 0 0 0 Dystroglycanopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dystroglycanopathy.yaml rather than rooted directly. DST G2P02397 DST-related neuropathy, hereditary sensory and autonomic MONDO:0013839 limited undetermined 2 0 0 0 0 0 Epidermolysis Bullosa Simplex 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Epidermolysis_Bullosa_Simplex.yaml rather than rooted directly. DTNBP1 G2P02690 DTNBP1-related Hermansky-Pudlak syndrome MONDO:0013559 definitive loss of function 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. DYRK1A G2P01160 DYRK1A-related intellectual developmental disorder MONDO:0013578 definitive loss of function 12 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ECEL1 G2P00880 ECEL1-related arthrogryposis, distal MONDO:0014028 definitive loss of function 12 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. EDNRB G2P02517 EDNRB-related Waardenburg syndrome MONDO:0010192 definitive loss of function 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. EDNRB G2P03082 EDNRB-related Waardenburg syndrome with Hirschsprung MONDO:0010192 definitive loss of function 12 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. EGFR G2P03620 EGFR-related inflammatory skin and bowel disease, neonatal MONDO:0014481 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. EGFR G2P03366 EGFR-related nonsmall cell lung cancer, susceptibility to MONDO:0008903 definitive gain of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. EGR2 G2P00984 EGR2-related neuropathy, congenital hypomyelinating definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ENG G2P02501 ENG-related hereditary haemorrhagic telangiectasia MONDO:0008535 definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. EPCAM G2P01804 EPCAM-related colorectal cancer, hereditary nonpolyposis MONDO:0013196 definitive loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. EPCAM G2P02993 EPCAM-related diarrhea with tufting enteropathy, congenital MONDO:0013184 definitive loss of function 8 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ERCC4 G2P00443 ERCC4-related Fanconi anemia MONDO:0014108 strong loss of function 5 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 gene_related_prefix_stripped 2 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ERCC4 G2P02525 ERCC4-related xeroderma pigmentosum, group F MONDO:0010215 definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ERCC6 G2P01008 ERCC6-related Cockayne syndrome MONDO:0019570 definitive loss of function 20 1 0 secondary_genetic Cockayne_Syndrome.yaml Cockayne Syndrome MONDO:0016006 gene_related_prefix_stripped 12 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ERCC8 G2P01291 ERCC8-related Cockayne syndrome MONDO:0019569 definitive loss of function 3 1 0 secondary_genetic Cockayne_Syndrome.yaml Cockayne Syndrome MONDO:0016006 gene_related_prefix_stripped 9 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ETFA G2P00823 ETFA-related glutaric aciduria MONDO:0009282 definitive loss of function 6 1 0 pathophysiology_only Multiple_Acyl-CoA_Dehydrogenase_Deficiency.yaml Multiple Acyl-CoA Dehydrogenase Deficiency MONDO:0009282 exact_mondo 3 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ETFB G2P01508 ETFB-related glutaric aciduria MONDO:0009282 definitive loss of function 3 1 0 pathophysiology_only Multiple_Acyl-CoA_Dehydrogenase_Deficiency.yaml Multiple Acyl-CoA Dehydrogenase Deficiency MONDO:0009282 exact_mondo 3 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ETFDH G2P00496 ETFDH-related glutaric aciduria MONDO:0009282 definitive loss of function 5 1 0 pathophysiology_only Multiple_Acyl-CoA_Dehydrogenase_Deficiency.yaml Multiple Acyl-CoA Dehydrogenase Deficiency MONDO:0009282 exact_mondo 3 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. EZH2 G2P01503 EZH2-related Weaver syndrome MONDO:0010193 definitive undetermined 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FAH G2P00934 FAH-related tyrosinemia MONDO:0010161 definitive loss of function 8 1 0 pathophysiology_only Tyrosinemia_Type_I.yaml Tyrosinemia Type I MONDO:0010161 exact_mondo 7 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FANCA G2P00906 FANCA-related Fanconi anemia MONDO:0009215 definitive loss of function 26 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 gene_related_prefix_stripped 13 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FANCB G2P00005 FANCB-related Fanconi anemia MONDO:0010351 definitive loss of function 13 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 gene_related_prefix_stripped 1 0 1 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FANCC G2P00172 FANCC-related Fanconi anemia MONDO:0009213 definitive loss of function 3 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 gene_related_prefix_stripped 13 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FANCD2 G2P00731 FANCD2-related Fanconi anemia MONDO:0009214 definitive loss of function 1 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 gene_related_prefix_stripped 13 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FANCE G2P00420 FANCE-related Fanconi anemia MONDO:0010953 definitive loss of function 3 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 gene_related_prefix_stripped 11 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FANCF G2P00234 FANCF-related Fanconi anemia MONDO:0011325 definitive loss of function 3 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FANCG G2P00399 FANCG-related Fanconi anemia MONDO:0013565 definitive loss of function 5 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 gene_related_prefix_stripped 6 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FANCI G2P01559 FANCI-related Fanconi anemia MONDO:0012186 definitive loss of function 2 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 gene_related_prefix_stripped 0 0 1 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FANCL G2P01575 FANCL-related Fanconi anemia MONDO:0013566 definitive loss of function 7 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 gene_related_prefix_stripped 13 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FANCM G2P01215 FANCM-related Fanconi anemia MONDO:0019391 strong loss of function 0 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 exact_mondo;gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FAS G2P02457 FAS-related autoimmune lymphoproliferative syndrome MONDO:0017979 definitive dominant negative 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FAS G2P03083 FAS-related autoimmune lymphoproliferative syndrome MONDO:0017979 definitive dominant negative 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FBN1 G2P02104 FBN1-related isolated ectopia lentis MONDO:0007514 limited undetermined 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FBN1 G2P03125 FBN1-related Marfan syndrome (biallelic) MONDO:0007947 definitive loss of function 44 1 0 secondary_genetic Marfan_Syndrome.yaml Marfan Syndrome MONDO:0007947 exact_mondo 7 1 1 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FBN1 G2P01013 FBN1-related Marfan syndrome (monoallelic) MONDO:0007947 definitive loss of function 82 1 0 secondary_genetic Marfan_Syndrome.yaml Marfan Syndrome MONDO:0007947 exact_mondo 9 1 1 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FBN1 G2P01563 FBN1-related Weill-Marchesani syndrome MONDO:0012013 strong undetermined 8 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FBN2 G2P00649 FBN2-related congenital contractural arachnodactyly MONDO:0007363 definitive dominant negative 7 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FGFR2 G2P01090 FGFR2-related Antley-Bixler syndrome MONDO:0020667 strong undetermined 3 0 0 0 0 0 Apert Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Apert_Syndrome.yaml rather than rooted directly. FGFR2 G2P01273 FGFR2-related Beare-Stevenson cutis gyrata syndrome MONDO:0007412 definitive gain of function 4 0 0 0 0 0 Apert Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Apert_Syndrome.yaml rather than rooted directly. FGFR2 G2P00144 FGFR2-related Crouzon syndrome MONDO:0007405 definitive gain of function 15 0 0 0 0 0 Apert Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Apert_Syndrome.yaml rather than rooted directly. FGFR2 G2P00621 FGFR2-related lacrimo-auriculo-dento-digital syndrome (LADD) MONDO:0100302 definitive gain of function 2 0 0 0 0 0 Apert Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Apert_Syndrome.yaml rather than rooted directly. FGFR2 G2P01586 FGFR2-related Pfeiffer syndrome MONDO:0007043 definitive gain of function 10 0 0 0 0 0 Apert Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Apert_Syndrome.yaml rather than rooted directly. FGFR3 G2P01202 FGFR3-related camptodactyly tall stature and hearing loss syndrome MONDO:0012504 definitive undetermined 2 0 0 0 0 0 SADDAN 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under SADDAN.yaml rather than rooted directly. FGFR3 G2P00178 FGFR3-related Muenke syndrome MONDO:0011274 definitive gain of function 8 0 0 0 0 0 SADDAN 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under SADDAN.yaml rather than rooted directly. FHOD3 G2P03718 FHOD3-related hypertrophic cardiomyopathy MONDO:0005045 definitive undetermined 11 1 0 secondary_genetic Hypertrophic_Cardiomyopathy.yaml Hypertrophic Cardiomyopathy MONDO:0005045 exact_mondo;gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FKRP G2P00294 FKRP-related congenital alpha-dystroglycanopathy with brain and eye anomalies MONDO:0013157 definitive loss of function 13 0 0 0 0 0 Dystroglycanopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dystroglycanopathy.yaml rather than rooted directly. FKTN G2P02795 FKTN-related muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, type A MONDO:0009678 definitive loss of function 7 0 0 0 0 0 Dystroglycanopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dystroglycanopathy.yaml rather than rooted directly. FKTN G2P01380 FKTN-related muscular dystrophy-dystroglycanopathy limb-girdle MONDO:0012699 definitive loss of function 10 0 0 0 0 0 Dystroglycanopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dystroglycanopathy.yaml rather than rooted directly. FLG G2P00388 FLG-related ichthyosis vulgaris MONDO:0007810 limited loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FOXC1 G2P00510 FOXC1-related Axenfeld-Rieger syndrome MONDO:0011233 definitive loss of function 9 1 0 secondary_genetic Axenfeld-Rieger_syndrome.yaml Axenfeld-Rieger_syndrome MONDO:0019187 gene_related_prefix_stripped 3 0 1 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FOXF1 G2P00481 FOXF1-related alveolar capillary dysplasia with misalignment of pulmonary veins MONDO:0009934 definitive loss of function 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FOXJ1 G2P02833 FOXJ1-related motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry MONDO:0032874 strong loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FOXP3 G2P01541 FOXP3-related IPEX syndrome MONDO:0010580 definitive loss of function 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FTO G2P00102 FTO-related growth retardation, developmental delay, coarse facies, and early death limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. FXN G2P03444 FXN-related Friedreich ataxia MONDO:0100340 definitive loss of function 8 1 0 secondary_genetic Friedreich_Ataxia.yaml Friedreich Ataxia MONDO:0100339 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. G6PC1 G2P02491 G6PC1-related glycogen storage disease definitive loss of function 2 0 0 0 0 0 Glycogen Storage Disease Type I 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Glycogen_Storage_Disease_Type_I.yaml rather than rooted directly. GAA G2P00764 GAA-related glycogen storage disease MONDO:0009290 definitive loss of function 10 1 0 pathophysiology_only Pompe_Disease.yaml Pompe Disease MONDO:0009290 exact_mondo 6 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GAA G2P03445 GAA-related Pompe disease MONDO:0009290 definitive loss of function 21 1 0 pathophysiology_only Pompe_Disease.yaml Pompe Disease MONDO:0009290 exact_mondo;gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GABRA1 G2P00800 GABRA1-related juvenile myoclonic epilepsy MONDO:0012627 strong loss of function 1 0 0 0 0 0 Epilepsy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Epilepsy.yaml rather than rooted directly. GABRG2 G2P01473 GABRG2-related epilepsy, generalized, with febrile seizures plus MONDO:0011891 strong loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GAD1 G2P00998 GAD1-related cerebral palsy spastic quadriplegic MONDO:0030856 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GALC G2P00623 GALC-related Krabbe disease MONDO:0009499 definitive loss of function 4 1 0 secondary_genetic Krabbe_Disease.yaml Krabbe Disease MONDO:0009499 exact_mondo;gene_related_prefix_stripped 3 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GAMT G2P00321 GAMT-related guanidinoacetate methyltransferase deficiency MONDO:0012999 definitive loss of function 3 1 0 pathophysiology_only Guanidinoacetate_Methyltransferase_Deficiency.yaml Guanidinoacetate Methyltransferase Deficiency MONDO:0012999 exact_mondo;gene_related_prefix_stripped 4 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GATA3 G2P02986 GATA3-related hypoparathyroidism, sensorineural deafness, and renal disease MONDO:0007797 definitive loss of function 38 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GATA4 G2P00476 GATA4-related atrial septal defect MONDO:0011938 definitive loss of function 6 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GBA1 G2P00946 GBA1-related Gaucher disease perinatal lethal MONDO:0011945 definitive loss of function 6 0 0 0 0 0 Gaucher Disease 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Gaucher_Disease.yaml rather than rooted directly. GCDH G2P00451 GCDH-related glutaricacidemia definitive loss of function 9 0 0 0 0 0 Glutaryl-CoA Dehydrogenase Deficiency 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Glutaryl-CoA_Dehydrogenase_Deficiency.yaml rather than rooted directly. GCSH G2P00617 GCSH-related glycine encephalopathy MONDO:0957382 strong loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GDF2 G2P03611 GDF2-related telangiectasia, hereditary haemorrhagic MONDO:0014217 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GDF5 G2P00087 GDF5-related acromesomelic chondrodysplasia, Grebe type MONDO:0008703 definitive loss of function 9 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GDF5 G2P01320 GDF5-related symphalangism spectrum disorder MONDO:0014125 definitive loss of function 7 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GJB2 G2P01851 GJB2-related deafness MONDO:0009076 definitive loss of function 15 0 0 0 0 0 Keratoderma Hereditarium Mutilans 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Keratoderma_Hereditarium_Mutilans.yaml rather than rooted directly. GJB2 G2P01855 GJB2-related ichthyosis hystrix-like with deafness syndrome MONDO:0011245 definitive undetermined 4 0 0 0 0 0 Keratoderma Hereditarium Mutilans 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Keratoderma_Hereditarium_Mutilans.yaml rather than rooted directly. GJB2 G2P02318 GJB2-related Vohwinkel syndrome definitive undetermined 1 0 0 0 0 0 Keratoderma Hereditarium Mutilans 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Keratoderma_Hereditarium_Mutilans.yaml rather than rooted directly. GLA G2P03295 GLA-related Fabry disease MONDO:0010526 definitive loss of function 12 1 0 pathophysiology_only Fabry_Disease.yaml Fabry disease MONDO:0010526 exact_mondo;gene_related_prefix_stripped 3 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GLDC G2P00163 GLDC-related glycine encephalopathy MONDO:0958179 definitive loss of function 12 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GLI2 G2P00285 GLI2-related holoprosencephaly MONDO:0012563 definitive loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GNAS G2P01167 GNAS-related McCune-Albright syndrome MONDO:0018919 definitive gain of function 7 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GNAS G2P02702 GNAS-related osseous heteroplasia, progressive MONDO:0008153 definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GNAS G2P00591 GNAS-related pseudohypoparathyroidism MONDO:0019992 definitive loss of function 22 1 0 secondary_genetic Pseudohypoparathyroidism.yaml Pseudohypoparathyroidism MONDO:0019992 exact_mondo;gene_related_prefix_stripped 8 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GRIA4 G2P02815 GRIA4-related neurodevelopmental disorder with or without seizures and gait abnormalities MONDO:0060641 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GRIN1 G2P01109 GRIN1-related epileptic encephalopathy MONDO:0013655 definitive undetermined 16 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GRIN1 G2P03206 GRIN1-related neurodevelopmental disorder with or without hyperkinetic movements and seizures MONDO:0060629 definitive loss of function 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GRIN2A G2P00566 GRIN2A-related epilepsy, focal, with speech disorder, and with or without intellectual developmental disorder definitive loss of function 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. GRIN2A G2P03433 GRIN2A-related neurodevelopmental disorder MONDO:0700092 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. HADHA G2P00186 HADHA-related long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0012173 definitive loss of function 1 1 0 pathophysiology_only Long-Chain_3-Hydroxyacyl-CoA_Dehydrogenase_Deficiency.yaml Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency MONDO:0012173 exact_mondo;gene_related_prefix_stripped 1 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. HAMP G2P02497 HAMP-related haemochromatosis, juvenile MONDO:0013220 definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. HCN1 G2P00411 HCN1-related epileptic encephalopathy, early infantile MONDO:0014377 definitive undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. HFE G2P02496 HFE-related haemochromatosis MONDO:0021001 definitive loss of function 1 0 0 0 0 0 Liver Cirrhosis 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Liver_Cirrhosis.yaml rather than rooted directly. HLCS G2P01643 HLCS-related holocarboxylase synthetase deficiency MONDO:0009666 definitive loss of function 5 1 0 pathophysiology_only Holocarboxylase_Synthetase_Deficiency.yaml Holocarboxylase Synthetase Deficiency MONDO:0009666 exact_mondo;gene_related_prefix_stripped 0 0 1 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. HMGCL G2P00857 HMGCL-related 3-hydroxy-3-methylglutaryl-CoA lyase deficiency MONDO:0009520 definitive loss of function 3 1 0 pathophysiology_only 3-Hydroxy-3-Methylglutaric_Aciduria.yaml 3-Hydroxy-3-Methylglutaric Aciduria MONDO:0009520 exact_mondo 4 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. HNF1B G2P00777 HNF1B-related renal cysts and diabetes syndrome MONDO:0007669 definitive loss of function 10 0 0 0 0 0 Diabetes mellitus 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Diabetes_Mellitus.yaml rather than rooted directly. HRAS G2P00466 HRAS-related congenital myopathy with excess of muscle spindles MONDO:0009026 definitive gain of function 10 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. HRAS G2P00024 HRAS-related Costello syndrome MONDO:0009026 definitive gain of function 10 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. IFIH1 G2P01033 IFIH1-related Aicardi-Goutieres syndrome MONDO:0014367 definitive undetermined 18 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. IFIH1 G2P01514 IFIH1-related Singleton-Merten syndrome MONDO:0024535 strong gain of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. IL6 G2P02666 IL6-related Kaposi sarcoma MONDO:0007845 definitive undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ITGB4 G2P02677 ITGB4-related epidermolysis bullosa simplex (Weber Cockayne) MONDO:0017610 definitive dominant negative 1 0 0 0 0 0 Epidermolysis Bullosa 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Epidermolysis_Bullosa.yaml rather than rooted directly. IVD G2P01372 IVD-related isovaleric acidemia MONDO:0009475 definitive loss of function 4 1 0 secondary_genetic Isovaleric_Acidemia.yaml Isovaleric Acidemia MONDO:0009475 exact_mondo;gene_related_prefix_stripped 6 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KCNB1 G2P01597 KCNB1-related epileptic encephalopathy, early infantile MONDO:0014477 definitive undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KCNE2 G2P03869 KCNE2-related long QT syndrome MONDO:0002442 disputed undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KCNH1 G2P01031 KCNH1-related Temple-Baraitser syndrome MONDO:0012735 strong gain of function 2 1 0 pathophysiology_only Temple-Baraitser_Syndrome.yaml Temple-Baraitser Syndrome MONDO:0012735 exact_mondo;gene_related_prefix_stripped 6 1 2 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KCNH1 G2P03689 KCNH1-related Zimmermann-Laband syndrome strong undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KCNJ11 G2P01408 KCNJ11-related diabetes mellitus, transient neonatal MONDO:0012522 definitive gain of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KCNJ11 G2P00710 KCNJ11-related familial hyperinsulinism MONDO:0011153 definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KCNJ2 G2P03306 KCNJ2-related Andersen-related Tawil syndrome MONDO:0008222 definitive undetermined 10 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KCNJ2 G2P03823 KCNJ2-related catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 disputed undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KCNJ2 G2P03870 KCNJ2-related long QT syndrome MONDO:0002442 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KCNJ2 G2P03265 KCNJ2-related short QT syndrome MONDO:0012314 moderate undetermined 9 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KCNK3 G2P02892 KCNK3-related developmental delay with sleep apnea MONDO:0700360 strong undetermined 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KCNQ1 G2P03882 KCNQ1-related hypertrophic cardiomyopathy MONDO:0024573 disputed undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KCNQ1 G2P03298 KCNQ1-related Jervell and Lange-Nielsen syndrome MONDO:0024540 definitive loss of function 8 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KCNQ1 G2P03285 KCNQ1-related long QT syndrome MONDO:0100316 definitive loss of function 8 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KCNQ1 G2P03286 KCNQ1-related long QT syndrome MONDO:0100316 definitive loss of function 8 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KCNQ1 G2P03266 KCNQ1-related short QT syndrome MONDO:0012313 strong gain of function 12 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KCNQ2 G2P00789 KCNQ2-related benign neonatal epilepsy MONDO:0007365 definitive loss of function 25 0 0 0 0 0 Epilepsy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Epilepsy.yaml rather than rooted directly. KCNQ2 G2P01456 KCNQ2-related epileptic encephalopathy MONDO:0013387 definitive gain of function 26 0 0 0 0 0 Epilepsy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Epilepsy.yaml rather than rooted directly. KCTD1 G2P00769 KCTD1-related scalp-ear-nipple syndrome MONDO:0008404 limited gain of function 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KIF5A G2P03141 KIF5A-related severe neonatal myoclonus MONDO:0014979 definitive loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KIF7 G2P00995 KIF7-related acrocallosal syndrome MONDO:0008708 definitive loss of function 9 0 0 0 0 0 Joubert syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Joubert_syndrome.yaml rather than rooted directly. KIT G2P01838 KIT-related familial gastro-intestinal stromal tumours definitive undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KIT G2P00447 KIT-related piebaldism MONDO:0008244 definitive loss of function 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KLF1 G2P01193 KLF1-related anemia, dyserythropoietic congenital MONDO:0013355 definitive dominant negative 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KLHL24 G2P03636 KLHL24-related epidermolysis bullosa simplex, generalised intermediate, with or without cardiomyopathy MONDO:0015006 moderate undetermined 2 0 0 0 0 0 Epidermolysis Bullosa Simplex 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Epidermolysis_Bullosa_Simplex.yaml rather than rooted directly. KMT2C G2P02442 KMT2C-related intellectual disability MONDO:0054701 strong loss of function 5 0 0 0 0 0 Kleefstra Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Kleefstra_Syndrome.yaml rather than rooted directly. KRAS G2P00720 KRAS-related cardiofaciocutaneous syndrome MONDO:0014112 definitive gain of function 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KRAS G2P00817 KRAS-related Noonan syndrome MONDO:0012371 definitive gain of function 3 1 0 secondary_genetic Noonan_Syndrome.yaml Noonan Syndrome MONDO:0018997 gene_related_prefix_stripped 6 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. KRT14 G2P02694 KRT14-related Naegeli syndrome MONDO:0008059 definitive loss of function 1 0 0 0 0 0 Epidermolysis Bullosa Simplex 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Epidermolysis_Bullosa_Simplex.yaml rather than rooted directly. L2HGDH G2P01212 L2HGDH-related L-2-hydroxyglutaric aciduria MONDO:0009370 definitive loss of function 2 1 0 pathophysiology_only L-2-Hydroxyglutaric_Aciduria.yaml L-2-Hydroxyglutaric Aciduria MONDO:0009370 exact_mondo;gene_related_prefix_stripped 2 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. LARGE1 G2P02800 LARGE1-related muscular dystrophy-dystroglycanopathy congenital with intellectual developmental disorder MONDO:0012138 definitive loss of function 5 0 0 0 0 0 Dystroglycanopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dystroglycanopathy.yaml rather than rooted directly. LDLR G2P02705 LDLR-related hypercholesterolaemia definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. LDLRAP1 G2P02707 LDLRAP1-related hypercholesterolaemia definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. LEMD3 G2P00550 LEMD3-related Buschke-Ollendorff syndrome MONDO:0008157 definitive loss of function 5 0 0 0 0 0 Dacryocystitis-Osteopoikilosis Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dacryocystitis-Osteopoikilosis_Syndrome.yaml rather than rooted directly. LIAS G2P02223 LIAS-related neonatal-onset epilepsy, defective mitochondrial energy metabolism and glycine elevation MONDO:0013762 strong undetermined 2 1 0 pathophysiology_only Lipoic_Acid_Synthetase_Deficiency.yaml Lipoic Acid Synthetase Deficiency MONDO:0013762 exact_mondo 3 1 1 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. LIPT1 G2P02224 LIPT1-related Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase MONDO:0014576 strong undetermined 3 1 0 pathophysiology_only Lipoyl_Transferase_1_Deficiency.yaml Lipoyl Transferase 1 Deficiency MONDO:0014576 exact_mondo 1 2 2 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. LIPT2 G2P02219 LIPT2-related mitochondrial lipoylation defect associated with severe neonatal encephalopathy MONDO:0060562 strong undetermined 1 1 0 pathophysiology_only NELABA.yaml Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities MONDO:0060562 exact_mondo 2 1 1 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. LMNA G2P01342 LMNA-related Emery-Dreifuss muscular dystrophy MONDO:0021569 definitive loss of function 6 0 0 0 0 0 Dilated Cardiomyopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dilated_Cardiomyopathy.yaml rather than rooted directly. LMNA G2P02319 LMNA-related heart-hand syndrome, Slovenian type MONDO:0012417 moderate undetermined 0 0 0 0 0 0 Dilated Cardiomyopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dilated_Cardiomyopathy.yaml rather than rooted directly. LMNA G2P00802 LMNA-related Hutchinson-Gilford progeria syndrome MONDO:0008310 definitive gain of function 3 0 0 0 0 0 Dilated Cardiomyopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dilated_Cardiomyopathy.yaml rather than rooted directly. LPL G2P02708 LPL-related hyperlipoproteinaemia definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. LRP5 G2P01234 LRP5-related exudative vitreoretinopathy MONDO:0011151 definitive loss of function 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. LRP5 G2P00044 LRP5-related osteopetrosis definitive gain of function 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. LRP5 G2P01554 LRP5-related osteoporosis-pseudoglioma syndrome on a spectrum with FEVR with osteopenia MONDO:0009820 definitive loss of function 8 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. LZTR1 G2P03479 LZTR1-related breast cancer, susceptibility to MONDO:0007254 moderate undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. LZTR1 G2P02571 LZTR1-related Noonan syndrome (biallelic) MONDO:0014693 strong undetermined 6 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. LZTR1 G2P02988 LZTR1-related Noonan syndrome (monoallelic) MONDO:0014693 definitive undetermined 10 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. LZTR1 G2P01846 LZTR1-related schwannomatosis MONDO:0008075 definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MED12 G2P03071 MED12-related developmental disorder MONDO:0700092 definitive loss of function 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MED12 G2P00913 MED12-related Lujan-Fryns syndrome definitive undetermined 11 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MED12 G2P00747 MED12-related Opitz-Kaveggia syndrome definitive undetermined 8 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MEFV G2P02488 MEFV-related familial mediterranean fever MONDO:0009572 definitive loss of function 1 1 0 secondary_genetic Familial_Mediterranean_Fever.yaml Familial Mediterranean Fever MONDO:0018088 gene_related_prefix_stripped 5 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MEN1 G2P01808 MEN1-related multiple endocrine neoplasia MONDO:0007540 definitive loss of function 15 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MET G2P01809 MET-related renal cell carcinoma, papillary MONDO:0003789 definitive gain of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MLH1 G2P01811 MLH1-related constitutional mismatch repair deficiency syndrome (CMMRD) MONDO:0010159 definitive loss of function 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MLH1 G2P03382 MLH1-related Lynch syndrome MONDO:0005835 definitive loss of function 22 1 0 secondary_genetic Lynch_Syndrome.yaml Lynch Syndrome MONDO:0005835 exact_mondo;gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MLH1 G2P01810 MLH1-related Muir-Torre syndrome MONDO:0008018 definitive loss of function 22 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MMAA G2P00288 MMAA-related methylmalonic aciduria MONDO:0009613 definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MMAB G2P00852 MMAB-related methylmalonic aciduria MONDO:0009614 definitive loss of function 16 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MMUT G2P01428 MMUT-related methylmalonic aciduria MONDO:0009612 definitive loss of function 10 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MPO G2P03659 MPO-related generalised pustular psoriasis limited undetermined 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MRAS G2P02997 MRAS-related Noonan syndrome MONDO:0032786 definitive gain of function 3 1 0 secondary_genetic Noonan_Syndrome.yaml Noonan Syndrome MONDO:0018997 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MSH2 G2P01840 MSH2-related constitutional mismatch repair deficiency syndrome (CMMRD) MONDO:0030840 definitive loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MSH2 G2P03339 MSH2-related Lynch syndrome MONDO:0005835 definitive loss of function 14 1 0 secondary_genetic Lynch_Syndrome.yaml Lynch Syndrome MONDO:0005835 exact_mondo;gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MSH6 G2P01841 MSH6-related constitutional mismatch repair deficiency syndrome MONDO:0030841 definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MSH6 G2P03381 MSH6-related Lynch syndrome MONDO:0005835 definitive loss of function 5 1 0 secondary_genetic Lynch_Syndrome.yaml Lynch Syndrome MONDO:0005835 exact_mondo;gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MYBPC3 G2P03795 MYBPC3-related arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MYBPC3 G2P03836 MYBPC3-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MYBPC3 G2P03279 MYBPC3-related hypertrophic cardiomyopathy MONDO:0007268 definitive loss of function 19 1 0 secondary_genetic Hypertrophic_Cardiomyopathy.yaml Hypertrophic Cardiomyopathy MONDO:0005045 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MYCN G2P01176 MYCN-related Feingold syndrome MONDO:0008115 definitive loss of function 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MYH3 G2P01341 MYH3-related distal arthrogryposis definitive undetermined 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. MYH3 G2P02609 MYH3-related spondylocarpotarsal synostosis syndrome MONDO:0020746 strong loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NAA10 G2P00808 NAA10-related syndromic developmental disorder MONDO:0010457 definitive loss of function 10 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NAA10 G2P01772 NAA10-related syndromic microphthalmia MONDO:0010671 moderate loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NAGS G2P00150 NAGS-related N-acetylglutamate synthase deficiency MONDO:0009377 definitive loss of function 2 1 0 secondary_genetic N-Acetylglutamate_Synthase_Deficiency.yaml N-Acetylglutamate Synthase Deficiency MONDO:0009377 exact_mondo;gene_related_prefix_stripped 6 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NEB G2P01211 NEB-related typical nemaline myopathy MONDO:0009725 definitive loss of function 13 0 0 0 0 0 Nemaline Myopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Nemaline_Myopathy.yaml rather than rooted directly. NEK8 G2P00072 NEK8-related nephronophthisis MONDO:0013444 strong undetermined 1 1 0 secondary_genetic Nephronophthisis.yaml Nephronophthisis MONDO:0019005 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NEK8 G2P00096 NEK8-related renal-hepatic-pancreatic dysplasia MONDO:0014174 strong loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NEXMIF G2P01492 NEXMIF-related intellectual disability and epilepsy (hemizygous) strong undetermined 6 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NEXMIF G2P01923 NEXMIF-related intellectual disability and epilepsy (heterozygous) MONDO:0010483 strong loss of function 8 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NF1 G2P00410 NF1-related neurofibromatosis MONDO:0018975 definitive loss of function 43 1 0 secondary_genetic Neurofibromatosis_Type_1.yaml Neurofibromatosis Type 1 MONDO:0018975 exact_mondo 7 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NF2 G2P01813 NF2-related schwannomatosis MONDO:0008075 definitive loss of function 12 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NFE2L2 G2P03112 NFE2L2-related leukoencephalopathy, immune deficiency and hypohomocysteinaemia MONDO:0060591 strong gain of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NKX2-5 G2P00139 NKX2-5-related atrial septal defect with atrioventricular conduction defects MONDO:0007173 definitive loss of function 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NKX2-5 G2P01360 NKX2-5-related congenital hypothyroidism non-goitrous MONDO:0009154 definitive dominant negative 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NKX2-5 G2P03842 NKX2-5-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NKX2-5 G2P00515 NKX2-5-related tetralogy of Fallot MONDO:0008542 definitive undetermined 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NLRP1 G2P02197 NLRP1-related autoinflammation with arthritis and dyskeratosis MONDO:0060457 strong undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NLRP1 G2P02196 NLRP1-related corneal intraepithelial dyskeratosis MONDO:0014089 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NLRP3 G2P02471 NLRP3-related cold urticaria, familial MONDO:0007349 strong gain of function 2 0 0 0 0 0 CINCA Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under CINCA_Syndrome.yaml rather than rooted directly. NLRP3 G2P02487 NLRP3-related familial cold autoinflammatory syndrome MONDO:0018768 definitive undetermined 1 0 0 0 0 0 CINCA Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under CINCA_Syndrome.yaml rather than rooted directly. NOD2 G2P02176 NOD2-related granulomatous synovitis with uveitis MONDO:0008523 definitive gain of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NOTCH1 G2P03696 NOTCH1-related Adams-Oliver syndrome definitive undetermined 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NOTCH1 G2P00827 NOTCH1-related left ventricular outflow tract obstruction MONDO:0024523 strong loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NOTCH3 G2P02462 NOTCH3-related cerebral arteiopathy with subcortical infarcts and leukencephalopathy definitive gain of function 2 0 0 0 0 0 CADASIL Type 1 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under CADASIL_Type_1.yaml rather than rooted directly. NPC1 G2P01294 NPC1-related Niemann-Pick disease MONDO:0009757 definitive loss of function 8 0 0 0 0 0 Niemann-Pick Disease Type C 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Niemann_Pick_Disease_Type_C.yaml rather than rooted directly. NPC2 G2P01449 NPC2-related Niemann-Pick disease MONDO:0011873 definitive loss of function 4 0 0 0 0 0 Niemann-Pick Disease Type C 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Niemann_Pick_Disease_Type_C.yaml rather than rooted directly. NPHP1 G2P02178 NPHP1-related Joubert syndrome definitive loss of function 0 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NPHP1 G2P01244 NPHP1-related nephronophthisis MONDO:0009728 definitive loss of function 4 1 0 secondary_genetic Nephronophthisis.yaml Nephronophthisis MONDO:0019005 gene_related_prefix_stripped 5 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NPHP3 G2P01485 NPHP3-related nephronophthisis MONDO:0011456 definitive loss of function 2 1 0 secondary_genetic Nephronophthisis.yaml Nephronophthisis MONDO:0019005 gene_related_prefix_stripped 2 0 0 Meckel Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Meckel_Syndrome.yaml rather than rooted directly. NPHP4 G2P00248 NPHP4-related nephronophthisis MONDO:0011752 definitive loss of function 1 1 0 secondary_genetic Nephronophthisis.yaml Nephronophthisis MONDO:0019005 gene_related_prefix_stripped 4 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NPHP4 G2P02179 NPHP4-related Senior-Loken syndrome MONDO:0011756 definitive loss of function 0 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NPM1 G2P02813 NPM1-related dyskeratosis congenita MONDO:0015780 strong undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NRAS G2P01345 NRAS-related Noonan syndrome MONDO:0013186 definitive gain of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NTRK1 G2P00007 NTRK1-related congenital insensitivity to pain with anhidrosis MONDO:0009746 definitive loss of function 8 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. NTRK2 G2P02374 NTRK2-related epilepsy and intellectual disability MONDO:0033367 strong undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ODAD1 G2P00958 ODAD1-related primary ciliary dyskinesia MONDO:0014030 definitive loss of function 2 1 0 secondary_genetic Primary_Ciliary_Dyskinesia.yaml Primary_Ciliary_Dyskinesia MONDO:0016575 gene_related_prefix_stripped 2 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. OFD1 G2P00019 OFD1-related oral-facial-digital syndrome MONDO:0010702 definitive loss of function 5 0 0 0 0 0 Joubert syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Joubert_syndrome.yaml rather than rooted directly. OFD1 G2P02506 OFD1-related Simpson-Golabi-Behmel syndrome MONDO:0010265 limited loss of function 1 0 0 0 0 0 Joubert syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Joubert_syndrome.yaml rather than rooted directly. OPTN G2P02005 OPTN-related primary open angle glaucoma limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. OTC G2P00088 OTC-related ornithine transcarbamylase deficiency definitive loss of function 12 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PALB2 G2P01814 PALB2-related cancer definitive loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PALB2 G2P01547 PALB2-related Fanconi anemia MONDO:0012565 definitive loss of function 2 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 gene_related_prefix_stripped 5 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PCCA G2P00031 PCCA-related propionic acidemia MONDO:0011628 definitive loss of function 10 1 0 pathophysiology_only Propionic_Acidemia.yaml Propionic Acidemia MONDO:0011628 exact_mondo;gene_related_prefix_stripped 8 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PCCB G2P01540 PCCB-related propionic acidemia MONDO:0011628 definitive loss of function 3 1 0 pathophysiology_only Propionic_Acidemia.yaml Propionic Acidemia MONDO:0011628 exact_mondo;gene_related_prefix_stripped 8 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PDGFRA G2P03388 PDGFRA-related gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial MONDO:0008285 definitive gain of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX1 G2P03697 PEX1-related Heimler syndrome strong undetermined 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX1 G2P00364 PEX1-related peroxisome biogenesis disorder MONDO:0019234 definitive loss of function 1 1 0 secondary_genetic Peroxisome_Biogenesis_Disorder.yaml Peroxisome Biogenesis Disorder MONDO:0019234 exact_mondo;gene_related_prefix_stripped 6 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX10 G2P01288 PEX10-related peroxisome biogenesis disorder 6A (Zellweger) MONDO:0013936 definitive loss of function 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX10 G2P02200 PEX10-related peroxisome biogenesis disorder 6B MONDO:0013937 definitive loss of function 0 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX12 G2P00830 PEX12-related peroxisome biogenesis disorder 3A (Zellweger) MONDO:0013927 definitive loss of function 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX12 G2P02202 PEX12-related peroxisome biogenesis disorder 3B MONDO:0009959 definitive loss of function 0 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX13 G2P00281 PEX13-related peroxisome biogenesis disorder 11A (Zellweger) MONDO:0013949 definitive loss of function 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX13 G2P02203 PEX13-related peroxisome biogenesis disorder 11B MONDO:0013950 definitive loss of function 0 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX2 G2P01069 PEX2-related peroxisome biogenesis disorder 5A (Zellweger) MONDO:0013932 definitive loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX2 G2P02206 PEX2-related peroxisome biogenesis disorder 5B MONDO:0013933 definitive loss of function 0 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX26 G2P02207 PEX26-related peroxisome biogenesis disorder 7B MONDO:0013939 definitive loss of function 0 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX26 G2P00482 PEX26-related Zellweger syndrome MONDO:0013938 definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX5 G2P02209 PEX5-related peroxisome biogenesis disorder 2B MONDO:0008736 definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX5 G2P01426 PEX5-related Zellweger syndrome MONDO:0008954 definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX6 G2P03626 PEX6-related Heimler syndrome 2 moderate undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX6 G2P00897 PEX6-related peroxisome biogenesis disorder 4A (Zellweger) MONDO:0013930 definitive loss of function 6 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX6 G2P02210 PEX6-related peroxisome biogenesis disorder 4B MONDO:0013931 definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX7 G2P01464 PEX7-related peroxisome biogenesis disorder complementation group 11 MONDO:0013945 definitive loss of function 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PEX7 G2P02211 PEX7-related rhizomelic chondrodysplasia punctata MONDO:0008972 definitive loss of function 0 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PHOX2B G2P01284 PHOX2B-related central hypoventilation syndrome, congenital, with or without Hirschsprung disease MONDO:0800026 definitive dominant negative 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PHOX2B G2P01832 PHOX2B-related neuroblastoma with Hirschsprung disease MONDO:0700041 definitive loss of function 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PIGL G2P00452 PIGL-related coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome (CHIME) MONDO:0010221 definitive loss of function 3 1 0 secondary_genetic CHIME_syndrome.yaml CHIME_syndrome MONDO:0010221 exact_mondo 4 3 3 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PITX2 G2P02214 PITX2-related anterior segment dysgenesis MONDO:0007662 definitive loss of function 0 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PITX2 G2P00805 PITX2-related Axenfeld-Rieger syndrome MONDO:0008386 definitive loss of function 5 1 0 secondary_genetic Axenfeld-Rieger_syndrome.yaml Axenfeld-Rieger_syndrome MONDO:0019187 gene_related_prefix_stripped 2 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PITX2 G2P00478 PITX2-related ring dermoid of cornea MONDO:0008387 strong undetermined 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PLEC G2P00169 PLEC-related epidermolysis bullosa simplex and limb-girdle muscular dystrophy MONDO:0009181 strong loss of function 3 0 0 0 0 0 Epidermolysis Bullosa Simplex 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Epidermolysis_Bullosa_Simplex.yaml rather than rooted directly. PLOD1 G2P01617 PLOD1-related Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:0016002 definitive loss of function 6 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PLP1 G2P01040 PLP1-related spastic paraplegia MONDO:0010733 definitive undetermined 5 0 0 0 0 0 Pelizaeus-Merzbacher Disease 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Pelizaeus_Merzbacher_Disease.yaml rather than rooted directly. PMS2 G2P01245 PMS2-related constitutional mismatch repair deficiency syndrome (CMMRD) MONDO:0030843 definitive loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PMS2 G2P01815 PMS2-related Lynch syndrome MONDO:0013699 definitive loss of function 5 1 0 secondary_genetic Lynch_Syndrome.yaml Lynch Syndrome MONDO:0005835 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. POMGNT1 G2P00236 POMGNT1-related muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies MONDO:0009667 definitive loss of function 6 0 0 0 0 0 Dystroglycanopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dystroglycanopathy.yaml rather than rooted directly. POMGNT1 G2P02799 POMGNT1-related muscular dystrophy-dystroglycanopathy congenital with intellectual developmental disorder, type B, 3 MONDO:0013155 definitive loss of function 8 0 0 0 0 0 Dystroglycanopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dystroglycanopathy.yaml rather than rooted directly. POMGNT1 G2P01566 POMGNT1-related muscular dystrophy-dystroglycanopathy limb-girdle MONDO:0013161 definitive undetermined 2 0 0 0 0 0 Dystroglycanopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dystroglycanopathy.yaml rather than rooted directly. POMGNT2 G2P01164 POMGNT2-related Walker Warberg spectrum disorder MONDO:0013904 definitive loss of function 4 0 0 0 0 0 Dystroglycanopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dystroglycanopathy.yaml rather than rooted directly. POMT1 G2P00602 POMT1-related muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies MONDO:0009364 definitive loss of function 10 0 0 0 0 0 Dystroglycanopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dystroglycanopathy.yaml rather than rooted directly. POMT2 G2P01063 POMT2-related muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies MONDO:0013154 definitive loss of function 7 0 0 0 0 0 Dystroglycanopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dystroglycanopathy.yaml rather than rooted directly. PPARG G2P02449 PPARG-related acanthosis nigricans with insulin resistance syndrome and hypertension definitive dominant negative 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PPARG G2P02672 PPARG-related lipodystrophy, familial partial MONDO:0011448 definitive dominant negative 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PPM1D G2P01708 PPM1D-related intellectual developmental disorder MONDO:0044318 definitive loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PPM1K G2P03512 PPM1K-related maple syrup urine disease limited loss of function 2 1 0 secondary_genetic Maple_Syrup_Urine_Disease.yaml Maple Syrup Urine Disease MONDO:0009563 gene_related_prefix_stripped 0 1 1 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PPP2R1A G2P01437 PPP2R1A-related intellectual disability MONDO:0014605 definitive dominant negative 1 0 0 0 0 0 Houge-Janssens Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Houge-Janssens_Syndrome.yaml rather than rooted directly. PPP2R5C G2P03721 PPP2R5C-related neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures MONDO:0100038 moderate undetermined non-loss-of-function 1 0 0 0 0 0 Houge-Janssens Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Houge-Janssens_Syndrome.yaml rather than rooted directly. PPP2R5D G2P01289 PPP2R5D-related intellectual disability MONDO:0014602 definitive dominant negative 9 0 0 0 0 0 Houge-Janssens Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Houge-Janssens_Syndrome.yaml rather than rooted directly. PPP3CA G2P02370 PPP3CA-related severe neurodevelopmental disease with seizures MONDO:0020630 strong undetermined 1 1 0 secondary_genetic CN_Related_DEE.yaml CN-Related Developmental and Epileptic Encephalopathy MONDO:0020630 exact_mondo 2 1 1 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PSEN1 G2P03889 PSEN1-related dilated cardiomyopathy MONDO:0016333 disputed undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PSEN2 G2P03846 PSEN2-related dilated cardiomyopathy MONDO:0016333 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PTCH1 G2P01424 PTCH1-related holoprosencephaly MONDO:0012562 definitive undetermined 2 0 0 0 0 0 Gorlin Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Gorlin_Syndrome.yaml rather than rooted directly. PTEN G2P02322 PTEN-related Lhermitte-Duclos disease MONDO:0008021 definitive loss of function 18 0 0 0 0 0 Cowden Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Cowden_Syndrome.yaml rather than rooted directly. PTEN G2P01201 PTEN-related Proteus syndrome MONDO:0008021 definitive loss of function 3 0 0 0 0 0 Cowden Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Cowden_Syndrome.yaml rather than rooted directly. PTPN11 G2P03310 PTPN11-related Noonan syndrome MONDO:0008104 definitive gain of function 38 1 0 secondary_genetic Noonan_Syndrome.yaml Noonan Syndrome MONDO:0018997 gene_related_prefix_stripped 10 1 1 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. PTPN11 G2P00841 PTPN11-related Noonan syndrome with multiple lentigines MONDO:0100082 definitive undetermined 34 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RAD51 G2P00620 RAD51-related mirror movements MONDO:0013790 limited loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RAD51C G2P03368 RAD51C-related cancer definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RAD51C G2P01017 RAD51C-related Fanconi anemia MONDO:0013248 strong undetermined 1 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 gene_related_prefix_stripped 5 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RAF1 G2P03311 RAF1-related Noonan syndrome MONDO:0012690 definitive gain of function 27 1 0 secondary_genetic Noonan_Syndrome.yaml Noonan Syndrome MONDO:0018997 gene_related_prefix_stripped 5 1 1 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RB1 G2P01817 RB1-related retinoblastoma MONDO:0018160 definitive loss of function 12 1 0 secondary_genetic Retinoblastoma.yaml Retinoblastoma MONDO:0008380 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RBM10 G2P01235 RBM10-related TARP syndrome MONDO:0010711 strong loss of function 5 1 0 secondary_genetic TARP_syndrome.yaml TARP syndrome MONDO:0010711 exact_mondo;gene_related_prefix_stripped 4 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RELN G2P00340 RELN-related lissencephaly MONDO:0009760 definitive loss of function 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RERE G2P01734 RERE-related phenocopy of proximal 1p36 deletions MONDO:0014857 definitive loss of function 6 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RET G2P01819 RET-related medullary thyroid carcinoma MONDO:0007958 definitive undetermined 10 1 0 secondary_genetic Medullary_Thyroid_Carcinoma.yaml Medullary Thyroid Carcinoma MONDO:0015277 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RET G2P01820 RET-related multiple endocrine neoplasia IIA MONDO:0008234 definitive gain of function 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RET G2P00680 RET-related multiple endocrine neoplasia IIB MONDO:0008082 definitive gain of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RET G2P02742 RET-related pheochromocytoma MONDO:0008233 definitive gain of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RET G2P00440 RET-related renal agenesis MONDO:0018470 limited loss of function 0 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RIT1 G2P03312 RIT1-related Noonan syndrome MONDO:0014143 definitive gain of function 5 1 0 secondary_genetic Noonan_Syndrome.yaml Noonan Syndrome MONDO:0018997 gene_related_prefix_stripped 10 1 1 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RNU4ATAC G2P00669 RNU4ATAC-related microcephalic osteodysplastic primordial dwarfism MONDO:0008871 definitive undetermined 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RORB G2P03304 RORB-related epilepsy and neurodevelopmental disorder MONDO:0032699 strong undetermined 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RPGR G2P02336 RPGR-related macular degeneration, atrophic MONDO:0010443 limited undetermined 1 0 0 0 0 0 RPGR-Related Retinopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under RPGR-Related_Retinopathy.yaml rather than rooted directly. RPGR G2P02335 RPGR-related retinitis pigmentosa MONDO:0010227 definitive loss of function 13 0 0 0 0 0 RPGR-Related Retinopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under RPGR-Related_Retinopathy.yaml rather than rooted directly. RPL11 G2P02417 RPL11-related Diamond-Blackfan anemia with cleft palate and abnormal thumbs MONDO:0012938 definitive loss of function 3 0 0 0 0 0 Diamond-Blackfan Anemia 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Diamond-Blackfan_Anemia.yaml rather than rooted directly. RSPH1 G2P01044 RSPH1-related primary ciliary dyskinesia with central-complex and radial-spoke defects MONDO:0014202 definitive loss of function 7 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. RXYLT1 G2P00477 RXYLT1-related severe cobblestone lissencephaly definitive loss of function 2 0 0 0 0 0 Dystroglycanopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dystroglycanopathy.yaml rather than rooted directly. RYR1 G2P00884 RYR1-related minicore myopathy with external ophthalmoplegia definitive loss of function 37 0 0 0 0 0 Central Core Myopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Central_Core_Myopathy.yaml rather than rooted directly. SAMHD1 G2P00795 SAMHD1-related Aicardi-Goutieres syndrome MONDO:0013059 definitive loss of function 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SATB1 G2P02893 SATB1-related developmental disorder MONDO:0700092 moderate loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SCN1A G2P00251 SCN1A-related seizure disorders MONDO:0011461 definitive loss of function 7 0 0 0 0 0 Migraine 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Migraine.yaml rather than rooted directly. SCN1B G2P03817 SCN1B-related Brugada syndrome MONDO:0013015 disputed undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SCN1B G2P03722 SCN1B-related developmental and epileptic encephalopathy MONDO:0033361 definitive undetermined non-loss-of-function 6 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SCN1B G2P01480 SCN1B-related generalized epilepsy with febrile seizures plus or temporal lobe epilepsy MONDO:0011416 definitive undetermined 10 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SCN2A G2P01716 SCN2A-related infantile epileptic encephalopathy MONDO:0013388 definitive undetermined 49 0 0 0 0 0 Epilepsy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Epilepsy.yaml rather than rooted directly. SCN5A G2P03799 SCN5A-related arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SCN5A G2P03261 SCN5A-related Brugada syndrome MONDO:0011001 definitive loss of function 18 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SCN5A G2P03511 SCN5A-related dilated cardiomyopathy MONDO:0011003 definitive undetermined 9 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SCN5A G2P03287 SCN5A-related long QT syndrome MONDO:0011377 definitive gain of function 15 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SCN9A G2P02486 SCN9A-related erythromelalgia, primary MONDO:0007571 definitive gain of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SDHD G2P01827 SDHD-related carcinoid tumors, intestinal MONDO:0005814 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SDHD G2P01828 SDHD-related paragangliomas with or without deafness MONDO:0008192 definitive loss of function 12 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SDHD G2P02743 SDHD-related pheochromocytoma MONDO:0008233 definitive gain of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SETD2 G2P02421 SETD2-related overgrowth syndrome (Luscan-Lumish syndrome) MONDO:0014791 strong loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SETD2 G2P03422 SETD2-related Rabin-Pappas syndrome MONDO:0859331 moderate gain of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SHOX G2P00460 SHOX-related Langer mesomelic dysplasia MONDO:0009588 definitive loss of function 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SHOX G2P01278 SHOX-related Leri-Weill dyschondrosteosis MONDO:0007481 definitive loss of function 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SHROOM3 G2P00329 SHROOM3-related neural tube defect MONDO:0018075 strong loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SLC1A2 G2P01865 SLC1A2-related epileptic encephalopathy MONDO:0014916 strong undetermined 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SLC22A5 G2P03299 SLC22A5-related primary systemic carnitine deficiency MONDO:0008919 definitive loss of function 14 1 0 pathophysiology_only Primary_Carnitine_Deficiency.yaml Primary Carnitine Deficiency MONDO:0008919 exact_mondo 9 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SLC25A13 G2P03908 SLC25A13-related citrullinemia MONDO:0011601 definitive loss of function 4 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SLC25A20 G2P00362 SLC25A20-related carnitine-acylcarnitine translocase deficiency MONDO:0008918 definitive loss of function 5 1 0 pathophysiology_only Carnitine-Acylcarnitine_Translocase_Deficiency.yaml Carnitine-acylcarnitine Translocase Deficiency MONDO:0008918 exact_mondo;gene_related_prefix_stripped 3 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SLC2A1 G2P00082 SLC2A1-related glucose transporter type 1 deficiency syndrome MONDO:0011724 definitive loss of function 13 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SLC37A4 G2P02492 SLC37A4-related glycogen storage disease MONDO:0009288 definitive loss of function 10 0 0 0 0 0 Glycogen Storage Disease Type I 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Glycogen_Storage_Disease_Type_I.yaml rather than rooted directly. SLX4 G2P00002 SLX4-related Fanconi anemia MONDO:0013499 definitive loss of function 2 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 gene_related_prefix_stripped 10 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SMAD2 G2P01267 SMAD2-related congenital heart disease MONDO:0859213 limited loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SMAD3 G2P00492 SMAD3-related Loeys-Dietz syndrome definitive loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SMAD4 G2P01459 SMAD4-related juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO:0008278 definitive loss of function 8 0 0 0 0 0 Juvenile Polyposis Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Juvenile_Polyposis_Syndrome.yaml rather than rooted directly. SMARCA2 G2P00849 SMARCA2-related Nicolaides-Baraitser syndrome MONDO:0011053 definitive undetermined 13 0 0 0 0 0 Coffin-Siris syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Coffin_Siris_Syndrome.yaml rather than rooted directly. SMARCA4 G2P00396 SMARCA4-related Coffin Siris definitive undetermined 3 0 0 0 0 0 Coffin-Siris syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Coffin_Siris_Syndrome.yaml rather than rooted directly. SMARCC2 G2P02636 SMARCC2-related syndromic intellectual disability and developmental delay MONDO:0032702 strong loss of function 1 0 0 0 0 0 Coffin-Siris syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Coffin_Siris_Syndrome.yaml rather than rooted directly. SMARCE1 G2P00174 SMARCE1-related Coffin Siris MONDO:0014838 strong undetermined 1 0 0 0 0 0 Coffin-Siris syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Coffin_Siris_Syndrome.yaml rather than rooted directly. SMO G2P01746 SMO-related Curry-Jones syndrome MONDO:0011134 definitive gain of function 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SMO G2P02966 SMO-related developmental disorder MONDO:0009436 strong loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SOS1 G2P01077 SOS1-related Noonan syndrome MONDO:0012547 definitive gain of function 3 1 0 secondary_genetic Noonan_Syndrome.yaml Noonan Syndrome MONDO:0018997 gene_related_prefix_stripped 8 1 1 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SOX10 G2P01852 SOX10-related Kallmann syndrome with deafness definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SOX10 G2P00537 SOX10-related peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease definitive dominant negative 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SOX10 G2P00843 SOX10-related Waardenburg syndrome MONDO:0012698 definitive loss of function 11 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SOX10 G2P00693 SOX10-related Yemenite deaf-blind hypopigmentation syndrome MONDO:0011133 definitive undetermined 0 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SOX11 G2P00338 SOX11-related neurodevelopmental disorder MONDO:0014376 definitive undetermined 3 0 0 0 0 0 Coffin-Siris syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Coffin_Siris_Syndrome.yaml rather than rooted directly. SOX17 G2P00585 SOX17-related vesicoureteral reflux MONDO:0013356 definitive undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SOX2 G2P01126 SOX2-related microphthalmia syndromic definitive loss of function 15 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SQSTM1 G2P03358 SQSTM1-related Paget disease of bone MONDO:0008176 limited loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. STAT1 G2P03599 STAT1-related immunodeficiency MONDO:0013427 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. STAT5B G2P00093 STAT5B-related growth hormone insensitivity with immunodeficiency MONDO:0100211 strong loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. STIM1 G2P00081 STIM1-related tubular-aggregate myopathy MONDO:0024531 limited gain of function 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. STK11 G2P01829 STK11-related pancreatic cancer definitive loss of function 8 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. STK11 G2P03369 STK11-related Peutz-Jeghers syndrome MONDO:0008280 definitive loss of function 7 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. STXBP1 G2P01128 STXBP1-related epileptic encephalopathy early infantile MONDO:0012812 definitive loss of function 62 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. SYNGAP1 G2P01343 SYNGAP1-related intellectual developmental disorder MONDO:0012960 definitive loss of function 42 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TBX4 G2P01037 TBX4-related ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension definitive loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TBX4 G2P02913 TBX4-related posterior amelia with pelvic and pulmonary hypoplasia limited loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TCF7L2 G2P02869 TCF7L2-related developmental disorder MONDO:0700092 definitive loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TCTN1 G2P00170 TCTN1-related Joubert syndrome and related disorders MONDO:0013608 strong loss of function 4 0 0 0 0 0 Joubert syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Joubert_syndrome.yaml rather than rooted directly. TERT G2P01663 TERT-related dyskeratosis congenita (biallelic) MONDO:0013521 strong undetermined 10 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TERT G2P03384 TERT-related dyskeratosis congenita (monoallelic) MONDO:0013521 strong loss of function 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TGFB1 G2P00412 TGFB1-related Camurati-Engelmann disease MONDO:0007542 definitive undetermined 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TGFB2 G2P01196 TGFB2-related Loeys-Dietz syndrome MONDO:0013897 definitive loss of function 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TGFBR1 G2P01114 TGFBR1-related Loeys-Dietz syndrome MONDO:0012212 definitive gain of function 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TGFBR1 G2P03389 TGFBR1-related multiple self-healing squamous epithelioma MONDO:0007566 definitive loss of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TGFBR2 G2P01379 TGFBR2-related Loeys-Dietz syndrome MONDO:0012427 definitive loss of function 6 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TJP1 G2P03801 TJP1-related arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TMEM216 G2P00552 TMEM216-related Joubert syndrome MONDO:0011963 strong undetermined 2 0 0 0 0 0 Meckel Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Meckel_Syndrome.yaml rather than rooted directly. TMEM231 G2P02287 TMEM231-related Joubert syndrome MONDO:0013994 definitive loss of function 2 0 0 0 0 0 Meckel Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Meckel_Syndrome.yaml rather than rooted directly. TNFRSF1A G2P02740 TNFRSF1A-related periodic fever, familial MONDO:0007727 definitive undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TNNT2 G2P03276 TNNT2-related dilated cardiomyopathy MONDO:0007267 definitive undetermined 6 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TNNT2 G2P03305 TNNT2-related hypertrophic cardiomyopathy MONDO:0007266 definitive undetermined 13 1 0 secondary_genetic Hypertrophic_Cardiomyopathy.yaml Hypertrophic Cardiomyopathy MONDO:0005045 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TNNT3 G2P03136 TNNT3-related congenital myopathy MONDO:0019952 strong loss of function 2 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TNXB G2P02481 TNXB-related Ehlers-Danlos syndrome classic-like MONDO:0020066 definitive loss of function 2 1 0 secondary_genetic Ehlers-Danlos_Syndrome.yaml Ehlers-Danlos Syndrome MONDO:0020066 exact_mondo 3 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TOPORS G2P02285 TOPORS-related retinitis pigmentosa MONDO:0012367 definitive loss of function 1 0 0 0 0 0 Joubert syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Joubert_syndrome.yaml rather than rooted directly. TP53 G2P01830 TP53-related Li-Fraumeni syndrome MONDO:0018875 definitive loss of function 14 1 0 secondary_genetic Li-Fraumeni_Syndrome.yaml Li-Fraumeni Syndrome MONDO:0018875 exact_mondo;gene_related_prefix_stripped 5 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TPM2 G2P01665 TPM2-related arthrogryposis, distal MONDO:0007157 strong undetermined 1 0 0 0 0 0 Nemaline Myopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Nemaline_Myopathy.yaml rather than rooted directly. TRIM63 G2P03880 TRIM63-related hypertrophic cardiomyopathy MONDO:0024573 disputed undetermined 1 1 0 secondary_genetic Hypertrophic_Cardiomyopathy.yaml Hypertrophic Cardiomyopathy MONDO:0005045 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TRPV3 G2P00500 TRPV3-related Olmsted syndrome MONDO:0100296 strong undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TRPV3 G2P03695 TRPV3-related palmoplantar keratoderma, nonepidermolytic, focal limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TRPV4 G2P01027 TRPV4-related spondylometaphyseal dysplasia, Kozlowski type MONDO:0008477 definitive gain of function 2 0 0 0 0 0 Metatropic Dysplasia 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Metatropic_Dysplasia.yaml rather than rooted directly. TSC1 G2P01270 TSC1-related tuberous sclerosis MONDO:0008612 definitive loss of function 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TSC2 G2P01636 TSC2-related tuberous sclerosis MONDO:0013199 definitive loss of function 14 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TSHR G2P01423 TSHR-related hyperthyroidism, familial gestational MONDO:0011309 definitive gain of function 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TSHR G2P01099 TSHR-related hypothyroidism, congenital, nongoitrous MONDO:0010142 definitive undetermined 9 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TTN G2P00355 TTN-related titinopathy with arthrogryposis and/or myopathy definitive loss of function 8 0 0 0 0 0 Dilated Cardiomyopathy 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Dilated_Cardiomyopathy.yaml rather than rooted directly. TTR G2P03517 TTR-related hereditary transthyretin (ATTR) amyloidosis MONDO:0019441 definitive gain of function 8 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. TYR G2P01189 TYR-related oculocutaneous albinism MONDO:0008745 definitive loss of function 6 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. UBE2T G2P01674 UBE2T-related Fanconi anemia MONDO:0014638 strong loss of function 1 1 0 secondary_genetic Fanconi_Anemia.yaml Fanconi_Anemia MONDO:0019391 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. UGT1A1 G2P00342 UGT1A1-related Crigler-Najjar syndrome MONDO:0021020 definitive loss of function 4 0 0 0 0 0 Gilbert's Syndrome 1 EMBEDDED_NOT_ROOTED MEDIUM DECIDE_IF_EMBEDDED_CONCEPT_NEEDS_ROOT Concept is currently embedded under Gilberts_Syndrome.yaml rather than rooted directly. VCAN G2P01992 VCAN-related Wagner syndrome MONDO:0007740 definitive dominant negative 5 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. VCL G2P03864 VCL-related hypertrophic cardiomyopathy MONDO:0024573 disputed undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. VCP G2P02870 VCP-related developmental disorder MONDO:0700092 limited loss of function 0 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. VDR G2P01106 VDR-related rickets vitamin D-dependent MONDO:0010186 definitive loss of function 12 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. VHL G2P02741 VHL-related pheochromocytoma MONDO:0008233 definitive gain of function 3 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. VHL G2P01831 VHL-related von Hippel-Lindau syndrome MONDO:0008667 definitive loss of function 7 1 0 secondary_genetic Von_Hippel-Lindau_Disease.yaml Von Hippel-Lindau Disease MONDO:0008667 exact_mondo 4 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. WNT4 G2P01570 WNT4-related mullerian aplasia and hyperandrogenism MONDO:0008019 strong undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. WNT4 G2P00183 WNT4-related SERKAL syndrome MONDO:0012734 strong undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. WT1 G2P00198 WT1-related Denys-Drash syndrome MONDO:0008682 definitive dominant negative 7 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. WT1 G2P02586 WT1-related Wilms tumour MONDO:0008679 definitive loss of function 1 1 0 secondary_genetic Wilms_Tumor.yaml Wilms Tumor MONDO:0006058 gene_related_prefix_stripped 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ZEB2 G2P00344 ZEB2-related Mowat-Wilson syndrome MONDO:0009341 definitive loss of function 10 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ZFPM2 G2P00453 ZFPM2-related malformation syndrome MONDO:0012431 limited undetermined 1 0 0 0 0 0 0 EMBEDDED_NOT_ROOTED MEDIUM REVIEW_NON_ROOT_GENE_MENTION Gene appears only in non-root mechanistic or secondary contexts. ACTA1 G2P01161 ACTA1-related nemaline myopathy MONDO:0008070 strong undetermined 1 1 1 causative Nemaline_Myopathy.yaml Nemaline Myopathy MONDO:0018958 gene_related_prefix_stripped 0 0 0 0 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 1 reviewed G2P PMIDs to Nemaline_Myopathy.yaml. ACVR1 G2P01283 ACVR1-related fibrodysplasia ossificans progressiva MONDO:0007606 strong gain of function 5 1 1 causative Fibrodysplasia_Ossificans_Progressiva.yaml Fibrodysplasia Ossificans Progressiva MONDO:0007606 exact_mondo;gene_related_prefix_stripped 2 0 0 Fibrodysplasia Ossificans Progressiva 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 5 reviewed G2P PMIDs to Fibrodysplasia_Ossificans_Progressiva.yaml. AGK G2P00587 AGK-related Sengers syndrome MONDO:0008922 definitive loss of function 8 1 1 causative Sengers_syndrome.yaml Sengers syndrome MONDO:0008922 exact_mondo;gene_related_prefix_stripped 2 0 0 Sengers syndrome 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 8 reviewed G2P PMIDs to Sengers_syndrome.yaml. AHI1 G2P01653 AHI1-related Joubert syndrome MONDO:0012078 definitive loss of function 7 1 1 causative Joubert_syndrome.yaml Joubert syndrome MONDO:0018772 gene_related_prefix_stripped 7 0 0 Joubert syndrome 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 7 reviewed G2P PMIDs to Joubert_syndrome.yaml. AKT1 G2P01168 AKT1-related Proteus syndrome MONDO:0008318 definitive gain of function 2 1 1 causative Proteus_syndrome.yaml Proteus syndrome MONDO:0008318 exact_mondo;gene_related_prefix_stripped 3 0 1 Proteus syndrome 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 2 reviewed G2P PMIDs to Proteus_syndrome.yaml. ARID1A G2P00746 ARID1A-related Coffin-Siris Syndrome definitive loss of function 4 1 1 causative Coffin_Siris_Syndrome.yaml Coffin-Siris syndrome MONDO:0015452 gene_related_prefix_stripped 10 0 0 Coffin-Siris syndrome 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 4 reviewed G2P PMIDs to Coffin_Siris_Syndrome.yaml. ARMC9 G2P02085 ARMC9-related Joubert syndrome MONDO:0033308 definitive loss of function 1 1 1 causative Joubert_syndrome.yaml Joubert syndrome MONDO:0018772 gene_related_prefix_stripped 7 0 0 Joubert syndrome 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 1 reviewed G2P PMIDs to Joubert_syndrome.yaml. ATM G2P01390 ATM-related ataxia-telangiectasia MONDO:0008840 definitive loss of function 14 1 1 causative Ataxia_Telangiectasia.yaml Ataxia-telangiectasia MONDO:0008840 exact_mondo;gene_related_prefix_stripped 4 0 0 Ataxia-telangiectasia 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 14 reviewed G2P PMIDs to Ataxia_Telangiectasia.yaml. B9D1 G2P01290 B9D1-related Meckel syndrome MONDO:0013630 strong loss of function 1 1 1 causative Meckel_Syndrome.yaml Meckel Syndrome MONDO:0018921 gene_related_prefix_stripped 0 0 0 0 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 1 reviewed G2P PMIDs to Meckel_Syndrome.yaml. BCKDHA G2P00735 BCKDHA-related maple syrup urine disease MONDO:0023691 definitive loss of function 13 1 1 causative Maple_Syrup_Urine_Disease.yaml Maple Syrup Urine Disease MONDO:0009563 gene_related_prefix_stripped 9 0 0 Maple Syrup Urine Disease 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 13 reviewed G2P PMIDs to Maple_Syrup_Urine_Disease.yaml. BCKDHB G2P01172 BCKDHB-related maple syrup urine disease MONDO:0023692 definitive loss of function 10 1 1 causative Maple_Syrup_Urine_Disease.yaml Maple Syrup Urine Disease MONDO:0009563 gene_related_prefix_stripped 9 0 0 Maple Syrup Urine Disease 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 10 reviewed G2P PMIDs to Maple_Syrup_Urine_Disease.yaml. BMPR1A G2P01795 BMPR1A-related juvenile polypopsis syndrome, infantile form MONDO:0017380 definitive loss of function 3 1 1 causative Juvenile_Polyposis_Syndrome.yaml Juvenile Polyposis Syndrome MONDO:0017380 exact_mondo 3 0 0 Juvenile Polyposis Syndrome 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 3 reviewed G2P PMIDs to Juvenile_Polyposis_Syndrome.yaml. CC2D2A G2P00987 CC2D2A-related Joubert syndrome MONDO:0012849 definitive loss of function 10 1 1 causative Joubert_syndrome.yaml Joubert syndrome MONDO:0018772 gene_related_prefix_stripped 14 0 0 Joubert syndrome;Meckel Syndrome 2 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 10 reviewed G2P PMIDs to Joubert_syndrome.yaml. CEP290 G2P00935 CEP290-related Joubert syndrome MONDO:0012432 definitive loss of function 20 1 1 causative Joubert_syndrome.yaml Joubert syndrome MONDO:0018772 gene_related_prefix_stripped 13 0 0 Joubert syndrome;Meckel Syndrome 2 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 20 reviewed G2P PMIDs to Joubert_syndrome.yaml. CEP41 G2P00408 CEP41-related Joubert syndrome MONDO:0013763 definitive loss of function 1 1 1 causative Joubert_syndrome.yaml Joubert syndrome MONDO:0018772 gene_related_prefix_stripped 7 0 0 Joubert syndrome 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 1 reviewed G2P PMIDs to Joubert_syndrome.yaml. COL10A1 G2P00648 COL10A1-related metaphyseal chondrodysplasia, Schmid type MONDO:0007983 definitive dominant negative 14 1 1 causative Metaphyseal_Chondrodysplasia_Schmid_Type.yaml Metaphyseal Chondrodysplasia, Schmid Type MONDO:0007983 exact_mondo;gene_related_prefix_stripped 0 0 0 0 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 14 reviewed G2P PMIDs to Metaphyseal_Chondrodysplasia_Schmid_Type.yaml. DBT G2P00734 DBT-related maple syrup urine disease MONDO:0023693 definitive loss of function 7 1 1 causative Maple_Syrup_Urine_Disease.yaml Maple Syrup Urine Disease MONDO:0009563 gene_related_prefix_stripped 9 0 0 Maple Syrup Urine Disease 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 7 reviewed G2P PMIDs to Maple_Syrup_Urine_Disease.yaml. DMD G2P01621 DMD-related Duchenne muscular dystrophy MONDO:0010679 definitive loss of function 54 1 1 causative Duchenne_Muscular_Dystrophy.yaml Duchenne Muscular Dystrophy MONDO:0010679 exact_mondo;gene_related_prefix_stripped 5 0 0 Duchenne Muscular Dystrophy 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 54 reviewed G2P PMIDs to Duchenne_Muscular_Dystrophy.yaml. FERMT1 G2P02504 FERMT1-related Kindler syndrome MONDO:0008260 definitive loss of function 2 1 1 causative Kindler_Epidermolysis_Bullosa.yaml Kindler Epidermolysis Bullosa MONDO:0008260 exact_mondo 0 0 0 0 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 2 reviewed G2P PMIDs to Kindler_Epidermolysis_Bullosa.yaml. FLNB G2P01122 FLNB-related atelosteogenesis, type 1 MONDO:0007167 definitive gain of function 3 1 1 causative Atelosteogenesis_Type_I.yaml Atelosteogenesis Type I MONDO:0007167 exact_mondo 1 0 1 Atelosteogenesis Type III;Larsen Syndrome;Atelosteogenesis Type I 3 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 3 reviewed G2P PMIDs to Atelosteogenesis_Type_I.yaml. FMR1 G2P00658 FMR1-related fragile X syndrome MONDO:0010383 definitive loss of function 21 1 1 causative Fragile_X_Syndrome.yaml Fragile X Syndrome MONDO:0010383 exact_mondo;gene_related_prefix_stripped 4 0 0 Fragile X Syndrome 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 21 reviewed G2P PMIDs to Fragile_X_Syndrome.yaml. HEXA G2P01042 HEXA-related GM2-gangliosidosis MONDO:0010100 definitive loss of function 29 1 1 causative Tay-Sachs_Disease.yaml Tay-Sachs Disease MONDO:0010100 exact_mondo 5 0 0 Tay-Sachs Disease 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 29 reviewed G2P PMIDs to Tay-Sachs_Disease.yaml. KBTBD13 G2P00067 KBTBD13-related nemaline myopathy MONDO:0012237 definitive undetermined 3 1 1 causative Nemaline_Myopathy.yaml Nemaline Myopathy MONDO:0018958 gene_related_prefix_stripped 1 0 0 Nemaline Myopathy 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 3 reviewed G2P PMIDs to Nemaline_Myopathy.yaml. KIAA0586 G2P01649 KIAA0586-related Joubert syndrome MONDO:0014664 definitive loss of function 8 1 1 causative Joubert_syndrome.yaml Joubert syndrome MONDO:0018772 gene_related_prefix_stripped 0 0 0 0 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 8 reviewed G2P PMIDs to Joubert_syndrome.yaml. KLHL40 G2P00335 KLHL40-related nemaline myopathy MONDO:0014138 definitive loss of function 1 1 1 causative Nemaline_Myopathy.yaml Nemaline Myopathy MONDO:0018958 gene_related_prefix_stripped 2 0 0 Nemaline Myopathy 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 1 reviewed G2P PMIDs to Nemaline_Myopathy.yaml. KRT14 G2P02683 KRT14-related epidermolysis bullosa simplex MONDO:0017610 definitive loss of function 1 1 1 causative Epidermolysis_Bullosa_Simplex.yaml Epidermolysis Bullosa Simplex MONDO:0017610 exact_mondo;gene_related_prefix_stripped 0 0 0 0 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 1 reviewed G2P PMIDs to Epidermolysis_Bullosa_Simplex.yaml. LAMP2 G2P03296 LAMP2-related Danon disease MONDO:0010281 definitive loss of function 13 1 1 causative Danon_disease.yaml Danon disease MONDO:0010281 exact_mondo;gene_related_prefix_stripped 3 0 1 Danon disease 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 13 reviewed G2P PMIDs to Danon_disease.yaml. LMNA G2P03271 LMNA-related dilated cardiomyopathy MONDO:0007269 definitive undetermined 11 1 1 causative Dilated_Cardiomyopathy.yaml Dilated Cardiomyopathy MONDO:0005021 gene_related_prefix_stripped 0 0 0 0 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 11 reviewed G2P PMIDs to Dilated_Cardiomyopathy.yaml. LMOD3 G2P02977 LMOD3-related nemaline myopathy MONDO:0014513 definitive loss of function 7 1 1 causative Nemaline_Myopathy.yaml Nemaline Myopathy MONDO:0018958 gene_related_prefix_stripped 0 0 0 0 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 7 reviewed G2P PMIDs to Nemaline_Myopathy.yaml. MYH7 G2P03272 MYH7-related dilated cardiomyopathy MONDO:0013262 definitive undetermined 5 1 1 causative Dilated_Cardiomyopathy.yaml Dilated Cardiomyopathy MONDO:0005021 gene_related_prefix_stripped 0 0 0 0 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 5 reviewed G2P PMIDs to Dilated_Cardiomyopathy.yaml. NLRP3 G2P02468 NLRP3-related chronic neurologic cutaneous and articular syndrome (CINCA) MONDO:0011776 definitive undetermined 2 1 1 causative CINCA_Syndrome.yaml CINCA Syndrome MONDO:0011776 exact_mondo 0 0 0 0 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 2 reviewed G2P PMIDs to CINCA_Syndrome.yaml. OFD1 G2P00384 OFD1-related Joubert syndrome MONDO:0010431 definitive loss of function 3 1 1 causative Joubert_syndrome.yaml Joubert syndrome MONDO:0018772 gene_related_prefix_stripped 5 0 0 Joubert syndrome 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 3 reviewed G2P PMIDs to Joubert_syndrome.yaml. PAH G2P00275 PAH-related phenylketonuria (PKU) MONDO:0009861 definitive loss of function 39 1 1 causative Phenylketonuria.yaml Phenylketonuria MONDO:0009861 exact_mondo 4 0 0 Phenylketonuria 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 39 reviewed G2P PMIDs to Phenylketonuria.yaml. PLEC G2P02684 PLEC-related epidermolysis bullosa simplex (Ogna) MONDO:0017610 strong undetermined 1 1 1 causative Epidermolysis_Bullosa_Simplex.yaml Epidermolysis Bullosa Simplex MONDO:0017610 exact_mondo 0 0 0 0 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 1 reviewed G2P PMIDs to Epidermolysis_Bullosa_Simplex.yaml. PLP1 G2P00646 PLP1-related leukodystrophy hypomyelinating MONDO:0010714 definitive loss of function 17 1 1 causative Pelizaeus_Merzbacher_Disease.yaml Pelizaeus-Merzbacher Disease MONDO:0010714 exact_mondo 9 0 0 Pelizaeus-Merzbacher Disease 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 17 reviewed G2P PMIDs to Pelizaeus_Merzbacher_Disease.yaml. PTCH1 G2P01487 PTCH1-related Gorlin syndrome (basal cell nevus syndrome) MONDO:0958174 definitive loss of function 4 1 1 causative PTCH1-related_Nevoid_Basal_Cell_Carcinoma_Syndrome.yaml PTCH1-related nevoid basal cell carcinoma syndrome MONDO:0958174 exact_mondo 3 0 0 Gorlin Syndrome;PTCH1-related nevoid basal cell carcinoma syndrome 2 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 4 reviewed G2P PMIDs to PTCH1-related_Nevoid_Basal_Cell_Carcinoma_Syndrome.yaml. PTEN G2P00413 PTEN-related hamartoma tumour syndrome (Cowden syndrome) MONDO:0008021 definitive loss of function 17 1 1 causative Cowden_Syndrome.yaml Cowden Syndrome MONDO:0016063 name_or_parenthetical_alias 6 0 0 Cowden Syndrome 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 17 reviewed G2P PMIDs to Cowden_Syndrome.yaml. RBM20 G2P03274 RBM20-related dilated cardiomyopathy MONDO:0013168 definitive undetermined 15 1 1 causative Dilated_Cardiomyopathy.yaml Dilated Cardiomyopathy MONDO:0005021 gene_related_prefix_stripped 0 0 0 0 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 15 reviewed G2P PMIDs to Dilated_Cardiomyopathy.yaml. RPS26 G2P03004 RPS26-related Diamond-Blackfan anemia MONDO:0013217 definitive loss of function 5 1 1 causative Diamond-Blackfan_Anemia.yaml Diamond-Blackfan Anemia MONDO:0015253 gene_related_prefix_stripped 0 0 0 0 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 5 reviewed G2P PMIDs to Diamond-Blackfan_Anemia.yaml. RUNX2 G2P00238 RUNX2-related cleidocranial dysplasia MONDO:0007340 definitive loss of function 7 1 1 causative Cleidocranial_Dysplasia.yaml Cleidocranial Dysplasia MONDO:0007340 exact_mondo;gene_related_prefix_stripped 3 0 0 Cleidocranial Dysplasia 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 7 reviewed G2P PMIDs to Cleidocranial_Dysplasia.yaml. SLC17A5 G2P00745 SLC17A5-related Salla disease MONDO:0011449 definitive loss of function 3 1 1 causative Salla_Disease.yaml Salla Disease MONDO:0011449 exact_mondo;gene_related_prefix_stripped 6 0 0 Salla Disease 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 3 reviewed G2P PMIDs to Salla_Disease.yaml. SPINK5 G2P02695 SPINK5-related Netherton syndrome MONDO:0009735 definitive loss of function 1 1 1 causative Netherton_Syndrome.yaml Netherton syndrome MONDO:0009735 exact_mondo;gene_related_prefix_stripped 3 0 0 Netherton syndrome 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 1 reviewed G2P PMIDs to Netherton_Syndrome.yaml. SUFU G2P03593 SUFU-related basal cell nevus syndrome MONDO:0958189 strong undetermined 2 1 1 causative SUFU-related_Nevoid_Basal_Cell_Carcinoma_Syndrome.yaml SUFU-related nevoid basal cell carcinoma syndrome MONDO:0958189 exact_mondo 3 0 0 Gorlin Syndrome;SUFU-related nevoid basal cell carcinoma syndrome 2 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 2 reviewed G2P PMIDs to SUFU-related_Nevoid_Basal_Cell_Carcinoma_Syndrome.yaml. TBX5 G2P00722 TBX5-related Holt-Oram syndrome MONDO:0007732 definitive loss of function 2 1 1 causative Holt_Oram.yaml Holt-Oram syndrome MONDO:0007732 exact_mondo;gene_related_prefix_stripped 3 0 0 Holt-Oram syndrome 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 2 reviewed G2P PMIDs to Holt_Oram.yaml. TTN G2P03277 TTN-related dilated cardiomyopathy MONDO:0011400 definitive undetermined 20 1 1 causative Dilated_Cardiomyopathy.yaml Dilated Cardiomyopathy MONDO:0005021 gene_related_prefix_stripped 0 0 0 0 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 20 reviewed G2P PMIDs to Dilated_Cardiomyopathy.yaml. UBE3A G2P01058 UBE3A-related Angelman syndrome MONDO:0007113 definitive loss of function 3 1 1 causative Angelman_Syndrome.yaml Angelman Syndrome MONDO:0007113 exact_mondo;gene_related_prefix_stripped 5 0 0 Angelman Syndrome 1 ROOT_MATCH_PMID_GAP MEDIUM BACKFILL_G2P_PMIDS_TO_MATCHED_ROOT Add 3 reviewed G2P PMIDs to Angelman_Syndrome.yaml.