Genes - dismech

Symbol	Name	Disorders
TP53	tumor protein p53	100	function
KRAS	KRas proto-oncogene, GTPase	43	summary: verified function
CDKN2A	cyclin dependent kinase inhibitor 2A	40
PIK3CA	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	40	function
HLA-DRB1	major histocompatibility complex, class II, DR beta 1	38
TERT	telomerase reverse transcriptase	28	function
BRAF	B-Raf proto-oncogene, serine/threonine kinase	26	summary: verified function
STAT3	signal transducer and activator of transcription 3	25	function
PTEN	phosphatase and tensin homolog	21	summary: verified function
NRAS	NRAS proto-oncogene, GTPase	19	function
CTNNB1	catenin beta 1	18
HLA-DQB1	major histocompatibility complex, class II, DQ beta 1	18
PTPN22	protein tyrosine phosphatase non-receptor type 22	18	function
ARID1A	AT-rich interaction domain 1A	17	function
NOTCH1	notch receptor 1	17	function
SCN5A	sodium voltage-gated channel alpha subunit 5	17
TNFAIP3	TNF alpha induced protein 3	17	function
CTLA4	cytotoxic T-lymphocyte associated protein 4	16	function
NF1	neurofibromin 1	16	function
SMAD3	SMAD family member 3	16	function
EGR2	early growth response 2	15	function
ERBB2	erb-b2 receptor tyrosine kinase 2	15
RB1	RB transcriptional corepressor 1	15	function
BACH2	BACH transcriptional regulator 2	14	function
JAK2	Janus kinase 2	14
KIT	KIT proto-oncogene, receptor tyrosine kinase	14	function
NLRP3	NLR family pyrin domain containing 3	14	function
TTN	titin	14
APOE	apolipoprotein E	13	function
ATRX	ATRX chromatin remodeler	13	function
EGFR	epidermal growth factor receptor	13	function
FGFR3	fibroblast growth factor receptor 3	13
IKZF1	IKAROS family zinc finger 1	13	function
MYC	MYC proto-oncogene, bHLH transcription factor	13	function
RET	ret proto-oncogene	13
WT1	WT1 transcription factor	13	function
COL2A1	collagen type II alpha 1 chain	12
FGFR2	fibroblast growth factor receptor 2	12	function
HLA-B	major histocompatibility complex, class I, B	12
HLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	12
IDH2	isocitrate dehydrogenase (NADP(+)) 2	12
IRF4	interferon regulatory factor 4	12	function
MLH1	mutL homolog 1	12
TNF	tumor necrosis factor	12
APC	APC regulator of Wnt signaling pathway	11	function
ETS1	ETS proto-oncogene 1, transcription factor	11
HRAS	HRas proto-oncogene, GTPase	11	function
MYH7	myosin heavy chain 7	11
TSC2	TSC complex subunit 2	11
ASXL1	ASXL transcriptional regulator 1	10	function
ESR1	estrogen receptor 1	10
FGFR1	fibroblast growth factor receptor 1	10
IL10	interleukin 10	10	function
LMNA	lamin A/C	10
SCN1A	sodium voltage-gated channel alpha subunit 1	10	function
SMAD4	SMAD family member 4	10
SMARCB1	SWI/SNF related BAF chromatin remodeling complex subunit B1	10
AR	androgen receptor	9	function
CACNA1A	calcium voltage-gated channel subunit alpha1 A	9
CD28	CD28 molecule	9	function
DICER1	dicer 1, ribonuclease III	9
F5	coagulation factor V	9
GNAS	GNAS complex locus	9	function
IL6	interleukin 6	9
IRF8	interferon regulatory factor 8	9	function
NKX2-5	NK2 homeobox 5	9
PCSK9	proprotein convertase subtilisin/kexin type 9	9	summary: verified
TET2	tet methylcytosine dioxygenase 2	9
TRPV4	transient receptor potential cation channel subfamily V member 4	9
BRCA1	BRCA1 DNA repair associated	8	function
DEPDC5	DEP domain containing 5, GATOR1 subcomplex subunit	8
DSP	desmoplakin	8
GABRG2	gamma-aminobutyric acid type A receptor subunit gamma2	8
GATA4	GATA binding protein 4	8
IDH1	isocitrate dehydrogenase (NADP(+)) 1	8
IL1B	interleukin 1 beta	8
KMT2D	lysine methyltransferase 2D	8
MSH2	mutS homolog 2	8
MYD88	MYD88 innate immune signal transduction adaptor	8
MYH6	myosin heavy chain 6	8
PMS2	PMS1 homolog 2, mismatch repair system component	8
REL	REL proto-oncogene, NF-kB subunit	8
SATB1	SATB homeobox 1	8
SCN2A	sodium voltage-gated channel alpha subunit 2	8
SMARCA4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	8
STAT4	signal transducer and activator of transcription 4	8	function
STK11	serine/threonine kinase 11	8
ACTC1	actin alpha cardiac muscle 1	7
BAP1	BRCA1 associated deubiquitinase 1	7	function
C3	complement C3	7
CDKN2B	cyclin dependent kinase inhibitor 2B	7
CFTR	CF transmembrane conductance regulator	7	function
DNMT3A	DNA methyltransferase 3 alpha	7	function
ENG	endoglin	7
EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	7
FAS	Fas cell surface death receptor	7	function
FLNA	filamin A	7
GDF5	growth differentiation factor 5	7
MAPT	microtubule associated protein tau	7	function
MED12	mediator complex subunit 12	7
MEN1	menin 1	7
MTHFR	methylenetetrahydrofolate reductase	7	function
NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	7
NOD2	nucleotide binding oligomerization domain containing 2	7
PDGFRA	platelet derived growth factor receptor alpha	7
PRDM1	PR/SET domain 1	7
RUNX1	RUNX family transcription factor 1	7
SCN9A	sodium voltage-gated channel alpha subunit 9	7	function
TGFB1	transforming growth factor beta 1	7
VHL	von Hippel-Lindau tumor suppressor	7
YAP1	Yes1 associated transcriptional regulator	7
ACVRL1	activin A receptor like type 1	6
AIFM1	apoptosis inducing factor mitochondria associated 1	6	summary: verified function
AIRE	autoimmune regulator	6	function
ALK	ALK receptor tyrosine kinase	6	function
APP	amyloid beta precursor protein	6	function
BRCA2	BRCA2 DNA repair associated	6	function
CFH	complement factor H	6
COL1A1	collagen type I alpha 1 chain	6
COMT	catechol-O-methyltransferase	6
DES	desmin	6
F2	coagulation factor II, thrombin	6
FBN1	fibrillin 1	6
FLNC	filamin C	6
GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	6
GATA1	GATA binding protein 1	6
GATA6	GATA binding protein 6	6
GJB2	gap junction protein beta 2	6
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A	6
HLA-A	major histocompatibility complex, class I, A	6
IFIH1	interferon induced with helicase C domain 1	6	function
IGF2	insulin like growth factor 2	6
KCNQ2	potassium voltage-gated channel subfamily Q member 2	6
MAP2K1	mitogen-activated protein kinase kinase 1	6
MECP2	methyl-CpG binding protein 2	6
MET	MET proto-oncogene, receptor tyrosine kinase	6
MFN2	mitofusin 2	6
MSH6	mutS homolog 6	6
MT-ATP6	mitochondrially encoded ATP synthase membrane subunit 6	6
MYBPC3	myosin binding protein C3	6
NOTCH2	notch receptor 2	6
NOTCH3	notch receptor 3	6
OTX2	orthodenticle homeobox 2	6
PARP1	poly(ADP-ribose) polymerase 1	6
PDGFRB	platelet derived growth factor receptor beta	6
PRPS1	phosphoribosyl pyrophosphate synthetase 1	6	function
RYR1	ryanodine receptor 1	6
RYR2	ryanodine receptor 2	6
SCN1B	sodium voltage-gated channel beta subunit 1	6
SCN8A	sodium voltage-gated channel alpha subunit 8	6
SETD2	SET domain containing 2, histone lysine methyltransferase	6
SHOX	SHOX homeobox	6
SLC2A1	solute carrier family 2 member 1	6
SOX2	SRY-box transcription factor 2	6	function
STAT6	signal transducer and activator of transcription 6	6
SYNGAP1	synaptic Ras GTPase activating protein 1	6	function
TLR4	toll like receptor 4	6
TNFRSF11A	TNF receptor superfamily member 11a	6
TNNI3	troponin I3, cardiac type	6
TP63	tumor protein p63	6
ABL1	ABL proto-oncogene 1, non-receptor tyrosine kinase	5	function
ALDH2	aldehyde dehydrogenase 2 family member	5
APOB	apolipoprotein B	5	summary: verified
ARX	aristaless related homeobox	5	function
BAG3	BAG cochaperone 3	5	function
BMPR1B	bone morphogenetic protein receptor type 1B	5
BMPR2	bone morphogenetic protein receptor type 2	5
CACNA1C	calcium voltage-gated channel subunit alpha1 C	5
CACNA1D	calcium voltage-gated channel subunit alpha1 D	5
CARD9	caspase recruitment domain family member 9	5
CAV1	caveolin 1	5
CD274	CD274 molecule	5
CDH1	cadherin 1	5	function
CDK4	cyclin dependent kinase 4	5	function
CDKL5	cyclin dependent kinase like 5	5
CEP290	centrosomal protein 290	5
CHD7	chromodomain helicase DNA binding protein 7	5
COL17A1	collagen type XVII alpha 1 chain	5
CYBB	cytochrome b-245 beta chain	5
CYP11B2	cytochrome P450 family 11 subfamily B member 2	5	function
DDX3X	DEAD-box helicase 3 X-linked	5
DST	dystonin	5
FLG	filaggrin	5	function
G6PD	glucose-6-phosphate dehydrogenase	5	function
GLB1	galactosidase beta 1	5	summary: verified function
GNA11	G protein subunit alpha 11	5
GRN	granulin precursor	5
HBB	hemoglobin subunit beta	5
HNF1A	HNF1 homeobox A	5	summary: verified
HNF1B	HNF1 homeobox B	5
HNF4A	hepatocyte nuclear factor 4 alpha	5	summary: verified
HOXD13	homeobox D13	5
IL13	interleukin 13	5	function
IL23R	interleukin 23 receptor	5	function
IL2RA	interleukin 2 receptor subunit alpha	5	function
JAG1	jagged canonical Notch ligand 1	5
JAK1	Janus kinase 1	5	function
JPH2	junctophilin 2	5
KCNJ11	potassium inwardly rectifying channel subfamily J member 11	5	summary: verified
KCNJ2	potassium inwardly rectifying channel subfamily J member 2	5
KCNJ5	potassium inwardly rectifying channel subfamily J member 5	5
KCNQ1	potassium voltage-gated channel subfamily Q member 1	5
KIF7	kinesin family member 7	5
KMT2A	lysine methyltransferase 2A	5
LDLR	low density lipoprotein receptor	5	summary: verified
LRP1	LDL receptor related protein 1	5	function
LRP5	LDL receptor related protein 5	5	function
MEFV	MEFV innate immunity regulator, pyrin	5	function
MPL	MPL proto-oncogene, thrombopoietin receptor	5
MPZ	myelin protein zero	5
MTOR	mechanistic target of rapamycin kinase	5
MYCN	MYCN proto-oncogene, bHLH transcription factor	5
NEFL	neurofilament light chain	5
NFE2L2	NFE2 like bZIP transcription factor 2	5	function
NFKB1	nuclear factor kappa B subunit 1	5
NR5A1	nuclear receptor subfamily 5 group A member 1	5
OPA1	OPA1 mitochondrial dynamin like GTPase	5
PAX3	paired box 3	5
PAX6	paired box 6	5	function
PEX6	peroxisomal biogenesis factor 6	5	function
PKD2	polycystin 2, transient receptor potential cation channel	5
PMP22	peripheral myelin protein 22	5
POLE	DNA polymerase epsilon, catalytic subunit	5
POLG	DNA polymerase gamma, catalytic subunit	5
PPARG	peroxisome proliferator activated receptor gamma	5
PRKAR1A	protein kinase cAMP-dependent type I regulatory subunit alpha	5
PTCH1	patched 1	5
PTPN11	protein tyrosine phosphatase non-receptor type 11	5	function
RAF1	Raf-1 proto-oncogene, serine/threonine kinase	5
RELN	reelin	5	function
SDHA	succinate dehydrogenase complex flavoprotein subunit A	5	function
SERPINA1	serpin family A member 1	5
SLC6A4	solute carrier family 6 member 4	5
SMAD2	SMAD family member 2	5
SNCA	synuclein alpha	5
SOST	sclerostin	5
SOX9	SRY-box transcription factor 9	5	function
SPG11	SPG11 vesicle trafficking associated, spatacsin	5	function
SQSTM1	sequestosome 1	5	function
STAG2	STAG2 cohesin complex component	5
STXBP1	syntaxin binding protein 1	5
SUFU	SUFU negative regulator of hedgehog signaling	5
TBX1	T-box transcription factor 1	5
TBX5	T-box transcription factor 5	5
TCF4	transcription factor 4	5
TNNC1	troponin C1, slow skeletal and cardiac type	5
TNNT2	troponin T2, cardiac type	5
TREM2	triggering receptor expressed on myeloid cells 2	5	function
TSC1	TSC complex subunit 1	5
TWIST1	twist family bHLH transcription factor 1	5
TYK2	tyrosine kinase 2	5
UGT1A1	UDP glucuronosyltransferase family 1 member A1	5
VCP	valosin containing protein	5	function
AARS1	alanyl-tRNA synthetase 1	4	function
ABCC8	ATP binding cassette subfamily C member 8	4	summary: verified function
ABCC9	ATP binding cassette subfamily C member 9	4	function
AKT1	AKT serine/threonine kinase 1	4	function
ANK2	ankyrin 2	4	function
ATM	ATM serine/threonine kinase	4	function
ATP1A1	ATPase Na+/K+ transporting subunit alpha 1	4
ATXN2	ataxin 2	4
AXIN1	axin 1	4	function
B2M	beta-2-microglobulin	4
BCL10	BCL10 immune signaling adaptor	4
BDNF	brain derived neurotrophic factor	4
CACNA1H	calcium voltage-gated channel subunit alpha1 H	4
CACNA1S	calcium voltage-gated channel subunit alpha1 S	4
CARD11	caspase recruitment domain family member 11	4
CASP1	caspase 1	4
CASR	calcium sensing receptor	4
CDKN1C	cyclin dependent kinase inhibitor 1C	4	function
CFI	complement factor I	4
CHD2	chromodomain helicase DNA binding protein 2	4
CHD4	chromodomain helicase DNA binding protein 4	4
CHRNA1	cholinergic receptor nicotinic alpha 1 subunit	4
CIITA	class II major histocompatibility complex transactivator	4
COL11A1	collagen type XI alpha 1 chain	4
COL3A1	collagen type III alpha 1 chain	4
COL7A1	collagen type VII alpha 1 chain	4
CXCR4	C-X-C motif chemokine receptor 4	4
DAXX	death domain associated protein	4
DCHS1	dachsous cadherin-related 1	4
DNM2	dynamin 2	4
DPYD	dihydropyrimidine dehydrogenase	4	function
DSG2	desmoglein 2	4
ERAP1	endoplasmic reticulum aminopeptidase 1	4
ERCC2	ERCC excision repair 2, TFIIH core complex helicase subunit	4
FBLN5	fibulin 5	4
FGF14	fibroblast growth factor 14	4
FGF23	fibroblast growth factor 23	4	summary: stale
FLI1	Fli-1 proto-oncogene, ETS transcription factor	4
FLNB	filamin B	4
FOXC1	forkhead box C1	4
FOXE3	forkhead box E3	4
FOXF1	forkhead box F1	4
FOXL2	forkhead box L2	4
FTO	FTO alpha-ketoglutarate dependent dioxygenase	4	function
FUS	FUS RNA binding protein	4
GABRB3	gamma-aminobutyric acid type A receptor subunit beta3	4
GABRD	gamma-aminobutyric acid type A receptor subunit delta	4
GANAB	glucosidase II alpha subunit	4
GCH1	GTP cyclohydrolase 1	4	function
GCK	glucokinase	4	summary: verified function
GDAP1	ganglioside induced differentiation associated protein 1	4
GDF2	growth differentiation factor 2	4
GDF6	growth differentiation factor 6	4
GJA1	gap junction protein alpha 1	4
GLS	glutaminase	4	function
GNAQ	G protein subunit alpha q	4
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B	4
GSTM1	glutathione S-transferase mu 1	4
GUCY2D	guanylate cyclase 2D, retinal	4
HLA-DPB1	major histocompatibility complex, class II, DP beta 1	4
IFNG	interferon gamma	4
IFT140	intraflagellar transport 140	4
IHH	Indian hedgehog signaling molecule	4
IL12B	interleukin 12B	4
IL1RN	interleukin 1 receptor antagonist	4
IL21R	interleukin 21 receptor	4
IL5	interleukin 5	4
IRF1	interferon regulatory factor 1	4
ITPR1	inositol 1,4,5-trisphosphate receptor type 1	4
KCNH2	potassium voltage-gated channel subfamily H member 2	4
KCNT1	potassium sodium-activated channel subfamily T member 1	4
KDM6A	lysine demethylase 6A	4
L1CAM	L1 cell adhesion molecule	4
LAMB3	laminin subunit beta 3	4
LBR	lamin B receptor	4	summary: stale
LDB3	LIM domain binding 3	4
LRBA	LPS responsive beige-like anchor protein	4	function
LRRK2	leucine rich repeat kinase 2	4	function
LTBP3	latent transforming growth factor beta binding protein 3	4
LZTR1	leucine zipper like post translational regulator 1	4
MBTPS2	membrane bound transcription factor peptidase, site 2	4
MED13L	mediator complex subunit 13L	4	function
MMACHC	metabolism of cobalamin associated C	4	function
MMP9	matrix metallopeptidase 9	4
MPO	myeloperoxidase	4
MSH3	mutS homolog 3	4
MSX1	msh homeobox 1	4
MYL3	myosin light chain 3	4
MYPN	myopalladin	4
NEU1	neuraminidase 1	4	function
NEXN	nexilin F-actin binding protein	4
NOG	noggin	4
NPHP1	nephrocystin 1	4
NTRK1	neurotrophic receptor tyrosine kinase 1	4
PAX5	paired box 5	4
PBRM1	polybromo 1	4
PEX10	peroxisomal biogenesis factor 10	4	summary: verified function
PEX13	peroxisomal biogenesis factor 13	4	function
PEX5	peroxisomal biogenesis factor 5	4	summary: verified function
PEX7	peroxisomal biogenesis factor 7	4	summary: verified function
PHOX2B	paired like homeobox 2B	4
PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	4	function
PITX2	paired like homeodomain 2	4
PKD1	polycystin 1, transient receptor potential channel interacting	4
PLN	phospholamban	4
PLP1	proteolipid protein 1	4
POLR3A	RNA polymerase III subunit A	4
PRKACA	protein kinase cAMP-activated catalytic subunit alpha	4
PROC	protein C, inactivator of coagulation factors Va and VIIIa	4
PROS1	protein S	4
PRRT2	proline rich transmembrane protein 2	4
PSAP	prosaposin	4	function
PSEN1	presenilin 1	4	function
RHOA	ras homolog family member A	4
RUNX2	RUNX family transcription factor 2	4
SDHB	succinate dehydrogenase complex iron sulfur subunit B	4	function
SDHD	succinate dehydrogenase complex subunit D	4	function
SIX1	SIX homeobox 1	4
SLC1A2	solute carrier family 1 member 2	4
SMO	smoothened, frizzled class receptor	4	function
SOX17	SRY-box transcription factor 17	4
SOX3	SRY-box transcription factor 3	4
SPG7	SPG7 matrix AAA peptidase subunit, paraplegin	4
SPTLC1	serine palmitoyltransferase long chain base subunit 1	4	function
SRSF2	serine and arginine rich splicing factor 2	4
STAT1	signal transducer and activator of transcription 1	4	function
STAT5B	signal transducer and activator of transcription 5B	4	function
SURF1	SURF1 cytochrome c oxidase assembly factor	4	function
TBP	TATA-box binding protein	4
TBX20	T-box transcription factor 20	4
TBX6	T-box transcription factor 6	4
TGFB2	transforming growth factor beta 2	4
TGFB3	transforming growth factor beta 3	4
TGFBR2	transforming growth factor beta receptor 2	4
TINF2	TERF1 interacting nuclear factor 2	4
TMEM67	transmembrane protein 67	4	function
TPM1	tropomyosin 1	4	function
TYMS	thymidylate synthetase	4	function
TYR	tyrosinase	4
UBA1	ubiquitin like modifier activating enzyme 1	4
VCL	vinculin	4
WNT10A	Wnt family member 10A	4
ABCA1	ATP binding cassette subfamily A member 1	3	function
ABCA4	ATP binding cassette subfamily A member 4	3	function
ABCB11	ATP binding cassette subfamily B member 11	3
ACAN	aggrecan	3	function
ACTA2	actin alpha 2, smooth muscle	3	function
ACVR1	activin A receptor type 1	3
ADH1B	alcohol dehydrogenase 1B (class I), beta polypeptide	3
AFG3L2	AFG3 like matrix AAA peptidase subunit 2	3	function
ALAD	aminolevulinate dehydratase	3	function
ALAS1	5'-aminolevulinate synthase 1	3
ALDH18A1	aldehyde dehydrogenase 18 family member A1	3	function
ALG8	ALG8 alpha-1,3-glucosyltransferase	3	function
ALG9	ALG9 alpha-1,2-mannosyltransferase	3	function
ANXA11	annexin A11	3	function
APOA5	apolipoprotein A5	3
APOC3	apolipoprotein C3	3
APOL1	apolipoprotein L1	3	function
ATL1	atlastin GTPase 1	3	function
ATP13A2	ATPase cation transporting 13A2	3	function
ATP13A3	ATPase 13A3	3	function
ATP1A2	ATPase Na+/K+ transporting subunit alpha 2	3	function
ATP1A3	ATPase Na+/K+ transporting subunit alpha 3	3	function
ATP6V1B2	ATPase H+ transporting V1 subunit B2	3	function
ATXN1	ataxin 1	3
ATXN3	ataxin 3	3	function
BCL2	BCL2 apoptosis regulator	3	function
BCOR	BCL6 corepressor	3
BEST1	bestrophin 1	3
BMP2	bone morphogenetic protein 2	3
BMPR1A	bone morphogenetic protein receptor type 1A	3
BRD4	bromodomain containing 4	3
BTNL2	butyrophilin like 2	3
C4A	complement C4A (Chido/Rodgers blood group)	3
C5	complement C5	3
C8B	complement C8 beta chain	3
C9orf72	C9orf72-SMCR8 complex subunit	3
CACNA1F	calcium voltage-gated channel subunit alpha1 F	3
CALR	calreticulin	3	function
CBL	Cbl proto-oncogene	3
CCND1	cyclin D1	3	function
CD40	CD40 molecule	3
CD79B	CD79b molecule	3
CDH2	cadherin 2	3
CDH23	cadherin related 23	3	function
CDK8	cyclin dependent kinase 8	3
CFB	complement factor B	3
CHM	CHM Rab escort protein	3
CLCN2	chloride voltage-gated channel 2	3
CLCN7	Cl-/H+ antiporter 7	3	function
CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	3
CLN6	CLN6 transmembrane ER protein	3
CLN8	CLN8 transmembrane ER and ERGIC protein	3
CNR1	cannabinoid receptor 1	3
COL11A2	collagen type XI alpha 2 chain	3
COL12A1	collagen type XII alpha 1 chain	3
COL5A1	collagen type V alpha 1 chain	3
COQ2	coenzyme Q2, polyprenyltransferase	3	summary: verified function
CPLX1	complexin 1	3
CREBBP	CREB binding lysine acetyltransferase	3
CSF1R	colony stimulating factor 1 receptor	3
CSRP3	cysteine and glycine rich protein 3	3
CST3	cystatin C	3
CTSD	cathepsin D	3
CYP11B1	cytochrome P450 family 11 subfamily B member 1	3	function
CYP2E1	cytochrome P450 family 2 subfamily E member 1	3
DCDC2	doublecortin domain containing 2	3
DHX37	DEAH-box helicase 37	3
DLG4	discs large MAGUK scaffold protein 4	3
DMD	dystrophin	3
DNA2	DNA replication helicase/nuclease 2	3
DNAH1	dynein axonemal heavy chain 1	3
DNAH5	dynein axonemal heavy chain 5	3
DRD2	dopamine receptor D2	3
DSG1	desmoglein 1	3
DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	3
EDNRB	endothelin receptor type B	3
EFEMP1	EGF-like fibulin extracellular matrix protein 1	3
EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	3
ELN	elastin	3
EPAS1	endothelial PAS domain protein 1	3
EPCAM	epithelial cell adhesion molecule	3
EPHA7	EPH receptor A7	3
EPOR	erythropoietin receptor	3
ERBB3	erb-b2 receptor tyrosine kinase 3	3
ERCC4	ERCC excision repair 4, endonuclease catalytic subunit	3	function
ERCC6	ERCC excision repair 6, chromatin remodeling factor	3
ETV6	ETS variant transcription factor 6	3
EWSR1	EWS RNA binding protein 1	3
EXT2	exostosin glycosyltransferase 2	3
F9	coagulation factor IX	3
FAN1	FANCD2 and FANCI associated nuclease 1	3
FAT1	FAT atypical cadherin 1	3
FAT4	FAT atypical cadherin 4	3
FGF13	fibroblast growth factor 13	3
FGF9	fibroblast growth factor 9	3
FH	fumarate hydratase	3
FIG4	FIG4 phosphoinositide 5-phosphatase	3
FLT4	fms related receptor tyrosine kinase 4	3
FMR1	fragile X messenger ribonucleoprotein 1	3
FOXE1	forkhead box E1	3
FOXJ1	forkhead box J1	3
FOXP3	forkhead box P3	3
FSHR	follicle stimulating hormone receptor	3
FTL	ferritin light chain	3
GAA	alpha glucosidase	3	summary: verified function
GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	3
GABRA5	gamma-aminobutyric acid type A receptor subunit alpha5	3
GARS1	glycyl-tRNA synthetase 1	3
GBA1	glucosylceramidase beta 1	3	function
GDF1	growth differentiation factor 1	3
GFI1	growth factor independent 1 transcriptional repressor	3
GJB1	gap junction protein beta 1	3
GJB6	gap junction protein beta 6	3
GLI2	GLI family zinc finger 2	3
GLI3	GLI family zinc finger 3	3
GLIS3	GLIS family zinc finger 3	3
GNAL	G protein subunit alpha L	3
GNPTAB	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	3	summary: verified
GRIN1	glutamate ionotropic receptor NMDA type subunit 1	3
GSTT1	glutathione S-transferase theta 1	3
GTF2I	general transcription factor IIi	3
GUCA1A	guanylate cyclase activator 1A	3
H19	H19 imprinted maternally expressed transcript	3
HADH	hydroxyacyl-CoA dehydrogenase	3	summary: verified function
HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	3	function
HARS1	histidyl-tRNA synthetase 1	3
HCFC1	host cell factor C1	3
HCN1	hyperpolarization activated cyclic nucleotide gated potassium channel 1	3
HCN4	hyperpolarization activated cyclic nucleotide gated potassium channel 4	3
HK1	hexokinase 1	3	summary: verified function
HMBS	hydroxymethylbilane synthase	3	function
HMGA2	high mobility group AT-hook 2	3
HSPB8	heat shock protein family B (small) member 8	3	function
ID4	inhibitor of DNA binding 4	3
IDUA	alpha-L-iduronidase	3	function
IFNAR1	interferon alpha and beta receptor subunit 1	3
IFNGR2	interferon gamma receptor 2	3
IFT74	intraflagellar transport 74	3
IGF1	insulin like growth factor 1	3
IGF1R	insulin like growth factor 1 receptor	3
IGHMBP2	immunoglobulin mu DNA binding protein 2	3
IL12RB1	interleukin 12 receptor subunit beta 1	3
IL17A	interleukin 17A	3
IL21	interleukin 21	3	function
IL4	interleukin 4	3	function
INF2	inverted formin 2	3
INS	insulin	3	function
INSR	insulin receptor	3
IRF3	interferon regulatory factor 3	3	function
IRF5	interferon regulatory factor 5	3
ITGA6	integrin subunit alpha 6	3
ITGB4	integrin subunit beta 4	3
JUP	junction plakoglobin	3
KCNB1	potassium voltage-gated channel subfamily B member 1	3
KCNE1	potassium voltage-gated channel subfamily E regulatory subunit 1	3
KCNH1	potassium voltage-gated channel subfamily H member 1	3
KDR	kinase insert domain receptor	3
KEAP1	kelch like ECH associated protein 1	3	function
KIAA0753	KIAA0753	3
KLF2	KLF transcription factor 2	3
KLHL24	kelch like family member 24	3
KRT1	keratin 1	3
KRT14	keratin 14	3
KRT5	keratin 5	3
LAMA3	laminin subunit alpha 3	3
LAMC2	laminin subunit gamma 2	3
LEMD3	LEM domain containing 3	3
LEP	leptin	3	summary: verified
LHCGR	luteinizing hormone/choriogonadotropin receptor	3
LIPA	lipase A, lysosomal acid type	3	summary: verified
LONP1	lon peptidase 1, mitochondrial	3	function
MAB21L2	mab-21 like 2	3
MALT1	MALT1 paracaspase	3
MAP1B	microtubule associated protein 1B	3
MARS1	methionyl-tRNA synthetase 1	3
MAVS	mitochondrial antiviral signaling protein	3
MCM4	minichromosome maintenance complex component 4	3
MDM2	MDM2 proto-oncogene	3
MED13	mediator complex subunit 13	3
MED25	mediator complex subunit 25	3
MEF2C	myocyte enhancer factor 2C	3
MFSD8	major facilitator superfamily domain containing 8	3
MITF	melanocyte inducing transcription factor	3
MKKS	MKKS centrosomal shuttling protein	3	function
MKS1	MKS transition zone complex subunit 1	3
MMAA	metabolism of cobalamin associated A	3	function
MMADHC	metabolism of cobalamin associated D	3	function
MME	membrane metalloendopeptidase	3
MMP13	matrix metallopeptidase 13	3
MT-ND1	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1	3	summary: verified
MT-ND6	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6	3	summary: verified
MYB	MYB proto-oncogene, transcription factor	3
MYH11	myosin heavy chain 11	3
MYL2	myosin light chain 2	3
MYO5B	myosin VB	3
MYRF	myelin regulatory factor	3
NAGA	alpha-N-acetylgalactosaminidase	3	summary: verified
NAGLU	N-acetyl-alpha-glucosaminidase	3	function
NEK1	NIMA related kinase 1	3	function
NFKBIA	NFKB inhibitor alpha	3
NKX2-1	NK2 homeobox 1	3
NLRP1	NLR family pyrin domain containing 1	3
NPHP3	nephrocystin 3	3
NR1H4	nuclear receptor subfamily 1 group H member 4	3
NR3C1	nuclear receptor subfamily 3 group C member 1	3
NRAP	nebulin related anchoring protein	3
NRG1	neuregulin 1	3
NTRK2	neurotrophic receptor tyrosine kinase 2	3
NTRK3	neurotrophic receptor tyrosine kinase 3	3
OFD1	OFD1 centriole and centriolar satellite protein	3
OPRM1	opioid receptor mu 1	3
OPTN	optineurin	3	function
OTC	ornithine transcarbamylase	3	function
PARN	poly(A)-specific ribonuclease	3
PAX2	paired box 2	3
PAX8	paired box 8	3
PBX1	PBX homeobox 1	3
PCDH19	protocadherin 19	3
PEX1	peroxisomal biogenesis factor 1	3	function
PEX12	peroxisomal biogenesis factor 12	3	function
PEX16	peroxisomal biogenesis factor 16	3	function
PEX19	peroxisomal biogenesis factor 19	3	function
PEX2	peroxisomal biogenesis factor 2	3	summary: verified function
PGAP1	post-GPI attachment to proteins inositol deacylase 1	3	function
PHGDH	phosphoglycerate dehydrogenase	3	function
PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	3	function
PKD1L1	polycystin 1 like 1, transient receptor potential channel interacting	3
PKHD1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	3
PLCB4	phospholipase C beta 4	3
PNPLA3	patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase	3	function
PNPLA6	patatin like domain 6, lysophospholipase	3
PNPT1	polyribonucleotide nucleotidyltransferase 1	3
POMC	proopiomelanocortin	3	summary: verified function
POT1	protection of telomeres 1	3
PPT1	palmitoyl-protein thioesterase 1	3
PRDM6	PR/SET domain 6	3
PRF1	perforin 1	3
PROKR2	prokineticin receptor 2	3
PRPH2	peripherin 2	3
PRTN3	proteinase 3	3
PSEN2	presenilin 2	3	function
PSTPIP1	proline-serine-threonine phosphatase interacting protein 1	3
PTH1R	parathyroid hormone 1 receptor	3
RAC1	Rac family small GTPase 1	3
RAI1	retinoic acid induced 1	3
RBM20	RNA binding motif protein 20	3
RECQL4	RecQ like helicase 4	3
RHO	rhodopsin	3
RIPK1	receptor interacting serine/threonine kinase 1	3
RIPK3	receptor interacting serine/threonine kinase 3	3
RNF213	ring finger protein 213	3
ROS1	ROS proto-oncogene 1, receptor tyrosine kinase	3
RPGR	retinitis pigmentosa GTPase regulator	3
SCN11A	sodium voltage-gated channel alpha subunit 11	3
SCN4A	sodium voltage-gated channel alpha subunit 4	3
SDHC	succinate dehydrogenase complex subunit C	3	function
SETBP1	SET binding protein 1	3
SETD1A	SET domain containing 1A, histone lysine methyltransferase	3
SF3B1	splicing factor 3b subunit 1	3
SGCD	sarcoglycan delta	3
SH2B3	SH2B adaptor protein 3	3
SHH	sonic hedgehog signaling molecule	3	function
SHROOM3	shroom family member 3	3
SIRT1	sirtuin 1	3	function
SLC11A2	solute carrier family 11 member 2	3
SLC12A2	solute carrier family 12 member 2	3
SLC26A2	solute carrier family 26 member 2	3
SLC30A8	solute carrier family 30 member 8	3
SLC34A1	solute carrier family 34 member 1	3
SLC39A14	solute carrier family 39 member 14	3
SLC4A1	solute carrier family 4 member 1 (Diego blood group)	3
SLC6A1	solute carrier family 6 member 1	3
SLC6A2	solute carrier family 6 member 2	3
SLC9A3	solute carrier family 9 member A3	3
SLCO1B1	solute carrier organic anion transporter family member 1B1	3
SLCO1B3	solute carrier organic anion transporter family member 1B3	3
SMAD6	SMAD family member 6	3
SMARCA2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	3
SMCHD1	structural maintenance of chromosomes flexible hinge domain containing 1	3
SMPD1	sphingomyelin phosphodiesterase 1	3	function
SORD	sorbitol dehydrogenase	3
SOX10	SRY-box transcription factor 10	3
SPTAN1	spectrin alpha, non-erythrocytic 1	3
SRD5A2	steroid 5 alpha-reductase 2	3	function
STAT5A	signal transducer and activator of transcription 5A	3	function
STING1	stimulator of interferon response cGAMP interactor 1	3	function
STS	steroid sulfatase	3
STUB1	STIP1 homology and U-box containing protein 1	3	function
SUZ12	SUZ12 polycomb repressive complex 2 subunit	3
TBK1	TANK binding kinase 1	3	function
TBX4	T-box transcription factor 4	3
TCF7L2	transcription factor 7 like 2	3
TERC	telomerase RNA component	3
TFE3	transcription factor binding to IGHM enhancer 3	3
TGFBI	transforming growth factor beta induced	3
TGFBR1	transforming growth factor beta receptor 1	3
TH	tyrosine hydroxylase	3	function
THAP11	THAP domain containing 11	3
TLR2	toll like receptor 2	3
TLR3	toll like receptor 3	3
TLR7	toll like receptor 7	3
TMEM216	transmembrane protein 216	3
TMEM231	transmembrane protein 231	3
TMEM43	transmembrane protein 43	3	function
TNC	tenascin C	3
TNFRSF11B	TNF receptor superfamily member 11b	3
TNFRSF1A	TNF receptor superfamily member 1A	3	function
TNFSF11	TNF superfamily member 11	3
TNXB	tenascin XB	3
TPMT	thiopurine S-methyltransferase	3
TPP1	tripeptidyl peptidase 1	3
TRAF3IP2	TRAF3 interacting protein 2	3
TUBA1A	tubulin alpha 1a	3
TUBB2B	tubulin beta 2B class IIb	3
TWNK	twinkle mtDNA helicase	3
UBIAD1	UbiA prenyltransferase domain containing 1	3
UNC13A	unc-13 homolog A	3
USP8	ubiquitin specific peptidase 8	3	function
VEGFA	vascular endothelial growth factor A	3	function
WASHC5	WASH complex subunit 5	3
WDR19	WD repeat domain 19	3
WFS1	wolframin ER transmembrane glycoprotein	3	function
WNT4	Wnt family member 4	3
ZFHX3	zinc finger homeobox 3	3
ZFPM2	zinc finger protein, FOG family member 2	3
ZIC3	Zic family zinc finger 3	3
ABCA12	ATP binding cassette subfamily A member 12	2
ABCB4	ATP binding cassette subfamily B member 4	2	function
ABCC6	ATP binding cassette subfamily C member 6	2	function
ABCD1	ATP binding cassette subfamily D member 1	2	function
ABCD4	ATP binding cassette subfamily D member 4	2	summary: verified function
ABCG5	ATP binding cassette subfamily G member 5	2	summary: verified function
ABCG8	ATP binding cassette subfamily G member 8	2	summary: verified function
ACD	ACD shelterin complex subunit and telomerase recruitment factor	2
ACE	angiotensin I converting enzyme	2
ACOX1	acyl-CoA oxidase 1	2	summary: verified function
ACTA1	actin alpha 1, skeletal muscle	2	function
ACTB	actin beta	2	function
ACTN2	actinin alpha 2	2
ADA2	adenosine deaminase 2	2
ADAM12	ADAM metallopeptidase domain 12	2
ADAMTS2	ADAM metallopeptidase with thrombospondin type 1 motif 2	2
ADH5	alcohol dehydrogenase 5 (class III), chi polypeptide	2
AGA	aspartylglucosaminidase	2	summary: verified
AGRN	agrin	2	function
AGXT	alanine--glyoxylate aminotransferase	2	summary: verified function
AHR	aryl hydrocarbon receptor	2	function
AHSG	alpha 2-HS glycoprotein	2
AIP	AHR interacting HSP90 co-chaperone	2	function
AK2	adenylate kinase 2	2	function
AKT3	AKT serine/threonine kinase 3	2
ALAS2	5'-aminolevulinate synthase 2	2	function
ALDH1A2	aldehyde dehydrogenase 1 family member A2	2
ALDH1A3	aldehyde dehydrogenase 1 family member A3	2
ALDOB	aldolase, fructose-bisphosphate B	2	function
ALG5	ALG5 dolichyl-phosphate beta-glucosyltransferase	2	function
ALG6	ALG6 alpha-1,3-glucosyltransferase	2	function
ALMS1	ALMS1 centrosome and basal body associated protein	2	function
ALOX12B	arachidonate 12-lipoxygenase, 12R type	2
ALOXE3	arachidonate epidermal lipoxygenase 3	2
ALPK3	alpha kinase 3	2	function
ALPL	alkaline phosphatase, biomineralization associated	2	function
AMACR	alpha-methylacyl-CoA racemase	2	function
AMPD2	adenosine monophosphate deaminase 2	2	function
ANGPT1	angiopoietin 1	2
ANKH	ANKH inorganic pyrophosphate transport regulator	2
ANO3	anoctamin 3	2
ANO5	anoctamin 5	2	function
AP1G1	adaptor related protein complex 1 subunit gamma 1	2	function
AP4E1	adaptor related protein complex 4 subunit epsilon 1	2	function
AQP4	aquaporin 4	2
ARF6	ARF GTPase 6	2
ARG1	arginase 1	2	function
ARID1B	AT-rich interaction domain 1B	2	function
ARL6	ARF like GTPase 6	2	function
ARSB	arylsulfatase B	2	function
AS3MT	arsenite methyltransferase	2
ASAH1	N-acylsphingosine amidohydrolase 1	2	function
ASCL1	achaete-scute family bHLH transcription factor 1	2	function
ASL	argininosuccinate lyase	2	function
ASS1	argininosuccinate synthase 1	2	function
ATF6	activating transcription factor 6	2	function
ATIC	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	2	function
ATP11A	ATPase phospholipid transporting 11A	2
ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	2
ATP2B3	ATPase plasma membrane Ca2+ transporting 3	2
ATP6AP2	ATPase H+ transporting accessory protein 2	2	function
ATP7B	ATPase copper transporting beta	2	summary: verified function
ATP8B1	ATPase phospholipid transporting 8B1	2
ATR	ATR checkpoint kinase	2
AVPR2	arginine vasopressin receptor 2	2
B9D1	B9 domain containing 1	2
B9D2	B9 domain containing 2	2
BAG5	BAG cochaperone 5	2
BAIAP2	BAR/IMD domain containing adaptor protein 2	2	function
BARD1	BRCA1 associated RING domain 1	2	function
BBS1	Bardet-Biedl syndrome 1	2	function
BBS2	Bardet-Biedl syndrome 2	2	function
BBS9	Bardet-Biedl syndrome 9	2	function
BCKDK	branched chain keto acid dehydrogenase kinase	2
BCL11A	BCL11 transcription factor A	2	function
BCL11B	BCL11 transcription factor B	2
BCR	BCR activator of RhoGEF and GTPase	2
BEAN1	brain expressed associated with NEDD4 1	2
BECN1	beclin 1	2	function
BIN1	bridging integrator 1	2	function
BLK	BLK proto-oncogene, Src family tyrosine kinase	2
BLM	BLM RecQ like helicase	2
BMP15	bone morphogenetic protein 15	2
BRPF1	bromodomain and PHD finger containing 1	2
BSCL2	BSCL2 lipid droplet biogenesis associated, seipin	2
BTK	Bruton tyrosine kinase	2
BUB1	BUB1 mitotic checkpoint serine/threonine kinase	2
C19orf12	chromosome 19 open reading frame 12	2
C1R	complement C1r	2
C1S	complement C1s	2
C6	complement C6	2
C7	complement C7	2
C8A	complement C8 alpha chain	2
C9	complement C9	2
CABP4	calcium binding protein 4	2
CACNA2D1	calcium voltage-gated channel auxiliary subunit alpha2delta 1	2	function
CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	2	function
CALM1	calmodulin 1	2	function
CALM2	calmodulin 2	2
CALM3	calmodulin 3	2	function
CAMTA1	calmodulin binding transcription activator 1	2
CAP2	cyclase associated actin cytoskeleton regulatory protein 2	2
CAPN3	calpain 3	2
CASK	calcium/calmodulin dependent serine protein kinase	2
CASQ2	calsequestrin 2	2
CAST	calpastatin	2
CAT	catalase	2
CAV3	caveolin 3	2
CBS	cystathionine beta-synthase	2	function
CC2D2A	coiled-coil and C2 domain containing 2A	2	function
CCDC88C	coiled-coil and HOOK domain protein 88C	2
CD19	CD19 molecule	2
CD3D	CD3 delta subunit of T-cell receptor complex	2
CD46	CD46 molecule	2
CD74	CD74 molecule	2
CDC73	cell division cycle 73	2
CDH11	cadherin 11	2
CDK19	cyclin dependent kinase 19	2
CDKN1B	cyclin dependent kinase inhibitor 1B	2	function
CDR2	cerebellar degeneration related protein 2	2
CDR2L	cerebellar degeneration related protein 2 like	2
CEP152	centrosomal protein 152	2	function
CEP164	centrosomal protein 164	2
CFAP221	cilia and flagella associated protein 221	2
CFAP410	cilia and flagella associated protein 410	2	function
CFAP418	cilia and flagella associated protein 418	2	function
CFAP54	cilia and flagella associated protein 54	2
CFC1	cryptic, EGF-CFC family member 1	2
CGAS	cyclic GMP-AMP synthase	2	function
CHAT	choline O-acetyltransferase	2
CHD8	chromodomain helicase DNA binding protein 8	2
CHEK2	checkpoint kinase 2	2
CHRM1	cholinergic receptor muscarinic 1	2
CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	2
CHRNA7	cholinergic receptor nicotinic alpha 7 subunit	2
CHST6	carbohydrate sulfotransferase 6	2
CIB2	calcium and integrin binding family member 2	2
CIC	capicua transcriptional repressor	2
CISD2	CDGSH iron sulfur domain 2	2
CLCNKB	chloride voltage-gated channel Kb	2
CLEC16A	C-type lectin domain containing 16A	2
CLEC7A	C-type lectin domain containing 7A	2
CLN5	CLN5 lysosomal BMP synthase	2
CNGA3	cyclic nucleotide gated channel subunit alpha 3	2
CNGB3	cyclic nucleotide gated channel subunit beta 3	2
CNOT3	CCR4-NOT transcription complex subunit 3	2
CNTNAP1	contactin associated protein 1	2
COG4	component of oligomeric golgi complex 4	2
COL10A1	collagen type X alpha 1 chain	2
COL1A2	collagen type I alpha 2 chain	2
COL4A1	collagen type IV alpha 1 chain	2
COL4A3	collagen type IV alpha 3 chain	2
COL4A6	collagen type IV alpha 6 chain	2
COL6A1	collagen type VI alpha 1 chain	2
COL6A2	collagen type VI alpha 2 chain	2
COL6A3	collagen type VI alpha 3 chain	2
COL9A1	collagen type IX alpha 1 chain	2
COL9A2	collagen type IX alpha 2 chain	2
COL9A3	collagen type IX alpha 3 chain	2
COQ4	coenzyme Q4	2	summary: verified function
COQ6	coenzyme Q6, monooxygenase	2	summary: verified function
COQ8A	coenzyme Q8A	2	summary: verified function
COQ8B	coenzyme Q8B	2	summary: verified function
CORO1A	coronin 1A	2
COX18	cytochrome c oxidase assembly factor COX18	2	summary: verified function
COX4I2	cytochrome c oxidase subunit 4I2	2	summary: verified function
COX6A1	cytochrome c oxidase subunit 6A1	2	function
CP	ceruloplasmin	2
CPAP	centrosome assembly and centriole elongation protein	2
CPLANE1	ciliogenesis and planar polarity effector complex subunit 1	2
CPOX	coproporphyrinogen oxidase	2	function
CPS1	carbamoyl-phosphate synthase 1	2	function
CPT1A	carnitine palmitoyltransferase 1A	2	function
CRB2	crumbs cell polarity complex component 2	2
CRBN	cereblon	2	function
CRKL	CRK like proto-oncogene, adaptor protein	2
CRYAB	crystallin alpha B	2	function
CSF2	colony stimulating factor 2	2
CSF2RA	colony stimulating factor 2 receptor subunit alpha	2
CSF2RB	colony stimulating factor 2 receptor subunit beta	2
CSF3R	colony stimulating factor 3 receptor	2
CSTB	cystatin B	2
CTCF	CCCTC-binding factor	2
CTNNA3	catenin alpha 3	2
CTNND2	catenin delta 2	2
CUL3	cullin 3	2	function
CXCL12	C-X-C motif chemokine ligand 12	2
CXCL9	C-X-C motif chemokine ligand 9	2
CYP17A1	cytochrome P450 family 17 subfamily A member 1	2	function
CYP19A1	cytochrome P450 family 19 subfamily A member 1	2	function
CYP1B1	cytochrome P450 family 1 subfamily B member 1	2
CYP21A2	cytochrome P450 family 21 subfamily A member 2	2	function
CYP27A1	cytochrome P450 family 27 subfamily A member 1	2	function
CYP4F22	cytochrome P450 family 4 subfamily F member 22	2
CYP7B1	cytochrome P450 family 7 subfamily B member 1	2	function
CYSLTR2	cysteinyl leukotriene receptor 2	2
DAB1	DAB adaptor protein 1	2
DAG1	dystroglycan 1	2
DALRD3	DALR anticodon binding domain containing 3	2
DAND5	DAN domain BMP antagonist family member 5	2
DAW1	dynein assembly factor with WD repeats 1	2
DCC	DCC netrin 1 receptor	2
DCTN1	dynactin subunit 1	2	function
DDC	dopa decarboxylase	2	function
DDR2	discoidin domain receptor tyrosine kinase 2	2
DGCR8	DGCR8 microprocessor complex subunit	2
DGKE	diacylglycerol kinase epsilon	2
DGUOK	deoxyguanosine kinase	2	function
DHFR	dihydrofolate reductase	2	summary: verified
DHH	desert hedgehog signaling molecule	2
DKC1	dyskerin pseudouridine synthase 1	2
DLD	dihydrolipoamide dehydrogenase	2	function
DLG1	discs large MAGUK scaffold protein 1	2
DLL3	delta like canonical Notch ligand 3	2
DLX3	distal-less homeobox 3	2
DLX5	distal-less homeobox 5	2
DLX6	distal-less homeobox 6	2
DMP1	dentin matrix acidic phosphoprotein 1	2	summary: verified
DMRT1	doublesex and mab-3 related transcription factor 1	2
DNAAF4	dynein axonemal assembly factor 4	2
DNAH10	dynein axonemal heavy chain 10	2
DNAH11	dynein axonemal heavy chain 11	2
DNAH7	dynein axonemal heavy chain 7	2
DNAH9	dynein axonemal heavy chain 9	2
DNAJB11	DnaJ heat shock protein family (Hsp40) member B11	2	function
DNAJB6	DnaJ heat shock protein family (Hsp40) member B6	2	function
DNAJC3	DnaJ heat shock protein family (Hsp40) member C3	2	function
DNAJC30	DnaJ heat shock protein family (Hsp40) member C30	2	summary: verified function
DNMT1	DNA methyltransferase 1	2	function
DNMT3B	DNA methyltransferase 3 beta	2
DOCK8	dedicator of cytokinesis 8	2
DONSON	DNA replication fork stabilization factor DONSON	2
DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	2	function
DPM2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	2	summary: verified function
DPP6	dipeptidyl peptidase like 6	2
DROSHA	drosha ribonuclease III	2
DSPP	dentin sialophosphoprotein	2
DTNBP1	dystrobrevin binding protein 1	2
DUOX2	dual oxidase 2	2
DUOXA2	dual oxidase maturation factor 2	2
EBP	EBP cholestenol delta-isomerase	2	summary: verified function
EDA	ectodysplasin A	2
EFHC1	EF-hand domain containing 1	2
EFL1	elongation factor like GTPase 1	2
EGR1	early growth response 1	2
EIF1AX	eukaryotic translation initiation factor 1A X-linked	2
EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	2	function
EIF2B1	eukaryotic translation initiation factor 2B subunit alpha	2
ELANE	elastase, neutrophil expressed	2
ELOVL4	ELOVL fatty acid elongase 4	2	function
ELP1	elongator acetyltransferase complex subunit 1	2
ELP4	elongator acetyltransferase complex subunit 4	2
EMD	emerin	2
ENOSF1	enolase superfamily member 1	2
EP300	EP300 lysine acetyltransferase	2
EPHA4	EPH receptor A4	2
EPHB4	EPH receptor B4	2
EPM2A	EPM2A glucan phosphatase, laforin	2
ERAP2	endoplasmic reticulum aminopeptidase 2	2
ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	2
ERCC5	ERCC excision repair 5, endonuclease	2
ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	2
ERLIN1	ER lipid raft associated 1	2	function
ERLIN2	ER lipid raft associated 2	2	function
ESCO2	establishment of sister chromatid cohesion N-acetyltransferase 2	2
ESR2	estrogen receptor 2	2
EXT1	exostosin glycosyltransferase 1	2
EYA1	EYA transcriptional coactivator and phosphatase 1	2
F10	coagulation factor X	2
F8	coagulation factor VIII	2
FANCA	FA complementation group A	2	function
FANCC	FA complementation group C	2	function
FANCD2	FA complementation group D2	2	function
FANCM	FA complementation group M	2	function
FAR1	fatty acyl-CoA reductase 1	2	summary: verified function
FASLG	Fas ligand	2
FCGR2A	Fc gamma receptor IIa	2
FCGR2B	Fc gamma receptor IIb	2
FCGR3A	Fc gamma receptor IIIa	2
FCRL3	Fc receptor like 3	2
FDFT1	farnesyl-diphosphate farnesyltransferase 1	2	function
FECH	ferrochelatase	2	function
FERMT1	FERM domain containing kindlin 1	2
FGA	fibrinogen alpha chain	2
FGG	fibrinogen gamma chain	2
FHL1	four and a half LIM domains 1	2
FHOD3	formin homology 2 domain containing 3	2
FKRP	fukutin related protein	2
FKTN	fukutin	2
FLCN	folliculin	2
FLII	FLII actin remodeling protein	2
FLT3	fms related receptor tyrosine kinase 3	2
FN1	fibronectin 1	2	function
FNIP1	folliculin interacting protein 1	2
FOLR1	folate receptor alpha	2
FOXO3	forkhead box O3	2
FUCA1	alpha-L-fucosidase 1	2	summary: verified
GABRG3	gamma-aminobutyric acid type A receptor subunit gamma3	2
GAD1	glutamate decarboxylase 1	2	function
GALNS	galactosamine (N-acetyl)-6-sulfatase	2	function
GATA2	GATA binding protein 2	2
GATA3	GATA binding protein 3	2	function
GATAD1	GATA zinc finger domain containing 1	2
GATM	glycine amidinotransferase	2	function
GBA2	glucosylceramidase beta 2	2
GBE1	1,4-alpha-glucan branching enzyme 1	2	function
GCKR	glucokinase regulator	2
GDF3	growth differentiation factor 3	2
GDNF	glial cell derived neurotrophic factor	2
GET3	guided entry of tail-anchored proteins factor 3, ATPase	2	function
GGCX	gamma-glutamyl carboxylase	2
GGPS1	geranylgeranyl diphosphate synthase 1	2	summary: verified function
GH1	growth hormone 1	2
GJA5	gap junction protein alpha 5	2
GJB3	gap junction protein beta 3	2
GLE1	GLE1 RNA export mediator	2
GLIS2	GLIS family zinc finger 2	2
GLRB	glycine receptor beta	2
GLUD1	glutamate dehydrogenase 1	2	summary: verified function
GMPPB	GDP-mannose pyrophosphorylase B	2
GNAI3	G protein subunit alpha i3	2
GNAO1	G protein subunit alpha o1	2
GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	2	function
GNPTG	N-acetylglucosamine-1-phosphate transferase subunit gamma	2
GNS	glucosamine (N-acetyl)-6-sulfatase	2	function
GP1BA	glycoprotein Ib platelet subunit alpha	2
GPR101	G protein-coupled receptor 101	2	function
GREB1L	GREB1 like retinoic acid receptor coactivator	2
GUCY2C	guanylate cyclase 2C	2
GUSB	glucuronidase beta	2	function
GYG1	glycogenin 1	2	function
H3-3A	H3.3 histone A	2
HAMP	hepcidin antimicrobial peptide	2
HBA1	hemoglobin subunit alpha 1	2
HBA2	hemoglobin subunit alpha 2	2
HCCS	holocytochrome c synthase	2
HDAC4	histone deacetylase 4	2	function
HDAC8	histone deacetylase 8	2
HEY1	hes related family bHLH transcription factor with YRPW motif 1	2
HFE	homeostatic iron regulator	2
HFM1	helicase for meiosis 1	2
HGF	hepatocyte growth factor	2
HGSNAT	heparan-alpha-glucosaminide N-acetyltransferase	2	function
HIF1A	hypoxia inducible factor 1 subunit alpha	2
HLA-DPA1	major histocompatibility complex, class II, DP alpha 1	2
HMOX1	heme oxygenase 1	2	summary: verified function
HNRNPA1	heterogeneous nuclear ribonucleoprotein A1	2
HOXA13	homeobox A13	2
HOXA2	homeobox A2	2
HPRT1	hypoxanthine phosphoribosyltransferase 1	2	function
HROB	homologous recombination factor with OB-fold	2
HSD17B4	hydroxysteroid 17-beta dehydrogenase 4	2	summary: verified function
HSPB1	heat shock protein family B (small) member 1	2
HSPD1	heat shock protein family D (Hsp60) member 1	2	function
HSPG2	heparan sulfate proteoglycan 2	2	function
HTR2A	5-hydroxytryptamine receptor 2A	2
HYAL1	hyaluronidase 1	2
IDS	iduronate 2-sulfatase	2	function
IFNAR2	interferon alpha and beta receptor subunit 2	2
IFNGR1	interferon gamma receptor 1	2
IFT172	intraflagellar transport 172	2
IGHM	immunoglobulin heavy constant mu	2
IKBKB	inhibitor of nuclear factor kappa B kinase subunit beta	2
IKBKG	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	2
IL10RB	interleukin 10 receptor subunit beta	2
IL15	interleukin 15	2	function
IL18	interleukin 18	2
IL1R1	interleukin 1 receptor type 1	2
IL22	interleukin 22	2	function
IL2RG	interleukin 2 receptor subunit gamma	2
IL36RN	interleukin 36 receptor antagonist	2	function
IL4R	interleukin 4 receptor	2
IL6R	interleukin 6 receptor	2
IL6ST	interleukin 6 cytokine family signal transducer	2
IL7R	interleukin 7 receptor	2	function
INPPL1	inositol polyphosphate phosphatase like 1	2
INTU	inturned planar cell polarity protein	2	function
INVS	inversin	2
IRAK1	interleukin 1 receptor associated kinase 1	2
IRX1	iroquois homeobox 1	2
ITGA2B	integrin subunit alpha 2b	2
ITGB2	integrin subunit beta 2	2
ITIH3	inter-alpha-trypsin inhibitor heavy chain 3	2	function
KARS1	lysyl-tRNA synthetase 1	2
KAT6B	lysine acetyltransferase 6B	2
KATNB1	katanin regulatory subunit B1	2
KCNA2	potassium voltage-gated channel subfamily A member 2	2
KCND3	potassium voltage-gated channel subfamily D member 3	2
KCNE2	potassium voltage-gated channel subfamily E regulatory subunit 2	2
KCNJ10	potassium inwardly rectifying channel subfamily J member 10	2
KCNK3	potassium two pore domain channel subfamily K member 3	2
KCNQ3	potassium voltage-gated channel subfamily Q member 3	2
KCNQ4	potassium voltage-gated channel subfamily Q member 4	2
KDM1A	lysine demethylase 1A	2
KDM5A	lysine demethylase 5A	2
KHK	ketohexokinase	2	function
KIF14	kinesin family member 14	2
KIF1A	kinesin family member 1A	2	function
KIF5A	kinesin family member 5A	2
KIF5B	kinesin family member 5B	2	function
KITLG	KIT ligand	2	function
KLF1	KLF transcription factor 1	2
KRT10	keratin 10	2
KRT74	keratin 74	2
KRT83	keratin 83	2
LAMA4	laminin subunit alpha 4	2
LARS2	leucyl-tRNA synthetase 2, mitochondrial	2
LAT	linker for activation of T cells	2
LCT	lactase	2	summary: verified
LDLRAP1	low density lipoprotein receptor adaptor protein 1	2
LEPR	leptin receptor	2	summary: verified
LETM1	leucine zipper and EF-hand containing transmembrane protein 1	2
LGI1	leucine rich glioma inactivated 1	2
LHX1	LIM homeobox 1	2
LIG1	DNA ligase 1	2
LINGO1	leucine rich repeat and Ig domain containing 1	2
LMBR1	limb development membrane protein 1	2
LMBRD1	LMBR1 domain containing 1	2	function
LMOD2	leiomodin 2	2
LOX	lysyl oxidase	2	function
LOXL1	lysyl oxidase like 1	2	function
LPA	lipoprotein(a)	2	function
LPL	lipoprotein lipase	2	function
LRP12	LDL receptor related protein 12	2	function
LRP2	LDL receptor related protein 2	2	function
LRP4	LDL receptor related protein 4	2	function
LRP6	LDL receptor related protein 6	2	function
LTBP2	latent transforming growth factor beta binding protein 2	2
LYST	lysosomal trafficking regulator	2
MAFB	MAF bZIP transcription factor B	2
MAGEL2	MAGE family member L2	2
MAP2K2	mitogen-activated protein kinase kinase 2	2	function
MAP3K1	mitogen-activated protein kinase kinase kinase 1	2
MAP3K20		2
MAX	MYC associated transcriptional regulator X	2
MBD4		2
MBOAT7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	2
MC1R	melanocortin 1 receptor	2
MC2R	melanocortin 2 receptor	2
MC4R	melanocortin 4 receptor	2	summary: verified
MCEE	methylmalonyl-CoA epimerase	2	function
MCM9	minichromosome maintenance 9 homologous recombination repair factor	2
MCOLN1	mucolipin TRP cation channel 1	2
MED11	mediator complex subunit 11	2
MED12L	mediator complex subunit 12L	2
MED16	mediator complex subunit 16	2
MED17	mediator complex subunit 17	2
MED23	mediator complex subunit 23	2
MED27	mediator complex subunit 27	2
MEPE	matrix extracellular phosphoglycoprotein	2
MFGE8	milk fat globule EGF and factor V/VIII domain containing	2
MIB1	MIB E3 ubiquitin protein ligase 1	2
MID1	midline 1	2
MKRN3	makorin ring finger protein 3	2
MLKL	mixed lineage kinase domain like pseudokinase	2
MMAB	metabolism of cobalamin associated B	2	function
MORC2	MORC family CW-type zinc finger 2	2
MRAS	muscle RAS oncogene homolog	2
MRPS7	mitochondrial ribosomal protein S7	2
MT-CYB	mitochondrially encoded cytochrome b	2
MT-ND4	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4	2
MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	2	summary: verified
MT-RNR1	mitochondrially encoded 12S rRNA	2
MT-TF	mitochondrially encoded tRNA-Phe (UUU/C)	2
MT-TK	mitochondrially encoded tRNA-Lys (AAA/G)	2	summary: verified
MT-TS1	mitochondrially encoded tRNA-Ser (UCN) 1	2	summary: verified
MT-TV	mitochondrially encoded tRNA-Val (GUN)	2	summary: verified
MTMR2	myotubularin related protein 2	2
MTR	5-methyltetrahydrofolate-homocysteine methyltransferase	2	function
MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	2	function
MUTYH	mutY DNA glycosylase	2
MVK	mevalonate kinase	2	summary: verified function
MYH3	myosin heavy chain 3	2
MYL4	myosin light chain 4	2
MYLK	myosin light chain kinase	2
MYO7A	myosin VIIA	2	function
MYOC	myocilin	2
MYOCD	myocardin	2
NAA10	N-alpha-acetyltransferase 10, NatA catalytic subunit	2	function
NAGS	N-acetylglutamate synthase	2	function
NARS1	asparaginyl-tRNA synthetase 1	2
NCF1	neutrophil cytosolic factor 1	2
NDP	norrin cystine knot growth factor NDP	2
NDRG1	N-myc downstream regulated 1	2
NDUFAF6	NADH:ubiquinone oxidoreductase complex assembly factor 6	2	function
NDUFB9	NADH:ubiquinone oxidoreductase subunit B9	2	function
NDUFS4	NADH:ubiquinone oxidoreductase subunit S4	2	function
NDUFV1	NADH:ubiquinone oxidoreductase core subunit V1	2	function
NEFH	neurofilament heavy chain	2
NEK8	NIMA related kinase 8	2
NFIX	nuclear factor I X	2
NGF	nerve growth factor	2
NHEJ1	non-homologous end joining factor 1	2
NHLRC1	NHL repeat containing E3 ubiquitin protein ligase 1	2
NHP2	NHP2 ribonucleoprotein	2
NIPA1	NIPA magnesium transporter 1	2
NIPAL4	NIPA like domain containing 4	2
NIPBL	NIPBL cohesin loading factor	2
NKX2-6	NK2 homeobox 6	2
NOP56	NOP56 ribonucleoprotein	2
NOS1	nitric oxide synthase 1	2
NOS3	nitric oxide synthase 3	2
NOTCH2NLC	notch 2 N-terminal like C	2
NPC1	NPC intracellular cholesterol transporter 1	2
NPC2	NPC intracellular cholesterol transporter 2	2
NPHP4	nephrocystin 4	2
NPHS2	NPHS2 stomatin family member, podocin	2	function
NPM1	nucleophosmin 1	2	function
NPPA	natriuretic peptide A	2
NPR2	natriuretic peptide receptor 2	2
NPRL3	NPR3 like, GATOR1 complex subunit	2
NR2F1	nuclear receptor subfamily 2 group F member 1	2
NR2F2	nuclear receptor subfamily 2 group F member 2	2
NSUN2	NOP2/Sun RNA methyltransferase 2	2	function
NUP107	nucleoporin 107	2
NUP98	nucleoporin 98 and 96 precursor	2
NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	2	function
OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2
OCA2	OCA2 melanosomal transmembrane protein	2
OCRL	OCRL inositol polyphosphate-5-phosphatase	2
ODAD3	outer dynein arm docking complex subunit 3	2
ODC1	ornithine decarboxylase 1	2	summary: verified function
OPN1LW	opsin 1, long wave sensitive	2
OPN1MW	opsin 1, medium wave sensitive	2
ORAI1	ORAI calcium release-activated calcium modulator 1	2
P2RX7	purinergic receptor P2X 7	2	function
PAFAH1B1	platelet activating factor acetylhydrolase 1b regulatory subunit 1	2	function
PANK2	pantothenate kinase 2	2	function
PARK7	Parkinsonism associated deglycase	2	function
PCBD1	pterin-4 alpha-carbinolamine dehydratase 1	2	function
PDE6C	phosphodiesterase 6C	2
PDE8B	phosphodiesterase 8B	2
PDGFB	platelet derived growth factor subunit B	2	function
PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	2	function
PDX1	pancreatic and duodenal homeobox 1	2
PER2	period circadian regulator 2	2
PER3	period circadian regulator 3	2
PEX11B	peroxisomal biogenesis factor 11 beta	2	function
PEX14	peroxisomal biogenesis factor 14	2	function
PEX26	peroxisomal biogenesis factor 26	2	function
PEX3	peroxisomal biogenesis factor 3	2	function
PFN1	profilin 1	2
PHF6	PHD finger protein 6	2
PIEZO1	piezo type mechanosensitive ion channel component 1 (Er blood group)	2
PIEZO2	piezo type mechanosensitive ion channel component 2	2
PIGA	phosphatidylinositol glycan anchor biosynthesis class A	2	function
PIKFYVE	phosphoinositide kinase, FYVE-type zinc finger containing	2
PIP5K1C	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	2
PKP2	plakophilin 2	2
PLA2G6	phospholipase A2 group VI	2
PLA2R1	phospholipase A2 receptor 1	2
PLCG2	phospholipase C gamma 2	2	function
PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	2
PLG	plasminogen	2
PLOD1	procollagen-lysine,2-oxoglutarate 5-dioxygenase 1	2
PNKP	polynucleotide kinase 3'-phosphatase	2
PNPLA2	patatin like domain 2, triacylglycerol lipase	2	summary: verified
POGLUT1	protein O-glucosyltransferase 1	2
POLA1	DNA polymerase alpha 1, catalytic subunit	2
POLQ	DNA polymerase theta	2
POLR1A	RNA polymerase I subunit A	2
POLR1C	RNA polymerase I and III subunit C	2
POLR2A	RNA polymerase II subunit A	2
POLR3B	RNA polymerase III subunit B	2
POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	2
POMK	protein O-mannose kinase	2
POMP	proteasome maturation protein	2
POMT1	protein O-mannosyltransferase 1	2	function
POMT2	protein O-mannosyltransferase 2	2
POR	cytochrome p450 oxidoreductase	2
POU1F1	POU class 1 homeobox 1	2
POU3F4	POU class 3 homeobox 4	2
PPA2	inorganic pyrophosphatase 2	2
PPARGC1A	PPARG coactivator 1 alpha	2
PPCS	phosphopantothenoylcysteine synthetase	2	function
PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	2
PPP2R1A	protein phosphatase 2 scaffold subunit Aalpha	2	function
PRDM13	PR/SET domain 13	2
PRDM16	PR/SET domain 16	2
PRDX3	peroxiredoxin 3	2
PREPL	prolyl endopeptidase like	2
PRG4	proteoglycan 4	2
PRKCD	protein kinase C delta	2
PRKCG	protein kinase C gamma	2
PRKDC	protein kinase, DNA-activated, catalytic subunit	2
PRKN	parkin RBR E3 ubiquitin protein ligase	2
PRNP	prion protein (Kanno blood group)	2
PRODH	proline dehydrogenase 1	2	summary: verified function
PROP1	PROP paired-like homeobox 1	2
PRRX1	paired related homeobox 1	2
PRSS1	serine protease 1	2
PSENEN	presenilin enhancer, gamma-secretase subunit	2	function
PTF1A	pancreas associated transcription factor 1a	2	function
PTS	6-pyruvoyltetrahydropterin synthase	2	function
PYCARD	PYD and CARD domain containing	2
QDPR	quinoid dihydropteridine reductase	2	function
RAB27A	RAB27A, member RAS oncogene family	2
RAC2	Rac family small GTPase 2	2
RAD21	RAD21 cohesin complex component	2	function
RAD51	RAD51 recombinase	2	function
RAG1	recombination activating 1	2
RASA1	RAS p21 protein activator 1	2	function
RBFOX2	RNA binding fox-1 homolog 2	2
RBM8A	RNA binding motif protein 8A	2
RBMX	RNA binding motif protein X-linked	2
RBMXL1	RBMX like 1	2
RBP4	retinol binding protein 4	2
RBSN	rabenosyn, RAB effector	2
REEP1	receptor accessory protein 1	2
RERE	arginine-glutamic acid dipeptide repeats	2
REST	RE1 silencing transcription factor	2
RFX6	regulatory factor X6	2
RHAG	Rh associated glycoprotein	2
RHCE	Rh blood group CcEe antigens	2
RHD	Rh blood group D antigen	2
RHEB	Ras homolog, mTORC1 binding	2
RHOBTB2	Rho related BTB domain containing 2	2
RIPPLY2	ripply transcriptional repressor 2	2
RMRP	RNA component of mitochondrial RNA processing endoribonuclease	2
RNF170	ring finger protein 170	2	function
RNF43	ring finger protein 43	2
RNU4ATAC	RNA, U4atac small nuclear	2
ROR2	ROR family WNT receptor 2	2
RORB	RAR related orphan receptor B	2
RPE65	retinoid isomerohydrolase RPE65	2	function
RPGRIP1L	RPGRIP1 like	2
RPL3L	ribosomal protein L3 like	2
RPS19	ribosomal protein S19	2
RPS6KA3	ribosomal protein S6 kinase A3	2
RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	2	function
RTEL1	regulator of telomere elongation helicase 1	2
RTN2	reticulon 2	2
SAA1	serum amyloid A1	2
SACS	sacsin molecular chaperone	2
SALL4	spalt like transcription factor 4	2
SAR1A	secretion associated Ras related GTPase 1A	2
SATB2	SATB homeobox 2	2
SBDS	SBDS ribosome maturation factor	2
SBF1	SET binding factor 1	2
SCLT1	sodium channel and clathrin linker 1	2
SCNN1A	sodium channel epithelial 1 subunit alpha	2
SCNN1B	sodium channel epithelial 1 subunit beta	2
SCUBE3	signal peptide, CUB domain and EGF like domain containing 3	2
SDCCAG8	SHH signaling and ciliogenesis regulator SDCCAG8	2
SDHAF2	succinate dehydrogenase complex assembly factor 2	2	function
SEC23B	SEC23 homolog B, COPII component	2
SEMA4A		2
SERPINC1	serpin family C member 1	2
SERPINF1	serpin family F member 1	2
SERPINH1	serpin family H member 1	2	function
SETD5	SET domain containing 5	2
SETX	senataxin	2
SGCA	sarcoglycan alpha	2	function
SGCB	sarcoglycan beta	2
SGCE	sarcoglycan epsilon	2	function
SGCG	sarcoglycan gamma	2
SGSH	N-sulfoglucosamine sulfohydrolase	2	function
SH2D1A	SH2 domain containing 1A	2
SH3TC2	SH3 domain and tetratricopeptide repeats 2	2
SHANK3	SH3 and multiple ankyrin repeat domains 3	2
SHOX2	SHOX homeobox 2	2
SIGMAR1	sigma receptor chaperone 1	2
SIM1	SIM bHLH transcription factor 1	2	summary: verified
SLC10A1	solute carrier family 10 member 1	2
SLC10A2	solute carrier family 10 member 2	2
SLC12A6	solute carrier family 12 member 6	2
SLC13A5	solute carrier family 13 member 5	2
SLC16A1	solute carrier family 16 member 1	2	summary: verified
SLC17A5	solute carrier family 17 member 5	2
SLC19A2	solute carrier family 19 member 2	2	function
SLC22A5	solute carrier family 22 member 5	2	function
SLC25A13	solute carrier family 25 member 13	2	function
SLC26A1	solute carrier family 26 member 1	2	summary: verified
SLC26A4	solute carrier family 26 member 4	2
SLC27A4	solute carrier family 27 member 4	2
SLC29A3	solute carrier family 29 member 3	2
SLC33A1	solute carrier family 33 member 1	2
SLC37A4	solute carrier family 37 member 4	2	summary: verified function
SLC39A8	solute carrier family 39 member 8	2
SLC3A1	solute carrier family 3 member 1	2	function
SLC45A2	solute carrier family 45 member 2	2
SLC4A11	solute carrier family 4 member 11	2
SLC5A2	solute carrier family 5 member 2	2
SLC5A7	solute carrier family 5 member 7	2
SLC6A3	solute carrier family 6 member 3	2
SLC9A1	solute carrier family 9 member A1	2
SLITRK1	SLIT and NTRK like family member 1	2
SMAD9	SMAD family member 9	2
SMC1A	structural maintenance of chromosomes 1A	2
SMPX	small muscle protein X-linked	2
SNAP25	synaptosome associated protein 25	2
SNAP29	synaptosome associated protein 29	2
SNF8	SNF8 subunit of ESCRT-II	2
SOD1	superoxide dismutase 1	2	function
SOS1	SOS Ras/Rac guanine nucleotide exchange factor 1	2	function
SOX11	SRY-box transcription factor 11	2
SP7	Sp7 transcription factor	2
SPEF2	sperm flagellar and cilia associated 2	2
SPI1	Spi-1 proto-oncogene	2	function
SPINK1	serine peptidase inhibitor Kazal type 1	2
SPINK5	serine peptidase inhibitor Kazal type 5	2
SPINT2	serine peptidase inhibitor, Kunitz type 2	2
SPR	sepiapterin reductase	2	function
SPTA1	spectrin alpha, erythrocytic 1	2
SPTB	spectrin beta, erythrocytic	2
SPTBN2	spectrin beta, non-erythrocytic 2	2
SPTLC2	serine palmitoyltransferase long chain base subunit 2	2	function
SRCAP	Snf2 related CREBBP activator protein	2
SRRM2	serine/arginine repetitive matrix 2	2
SRY	sex determining region Y	2
SS18	SS18 subunit of BAF chromatin remodeling complex	2
SSX1	SSX family member 1	2
STAC3	SH3 and cysteine rich domain 3	2
STAR	steroidogenic acute regulatory protein	2	function
STIM1	stromal interaction molecule 1	2
STRA6	signaling receptor and transporter of retinol STRA6	2
STX1B	syntaxin 1B	2
SVIL	supervillin	2
SYK	spleen associated tyrosine kinase	2
SYN1	synapsin I	2	function
SYNE1	spectrin repeat containing nuclear envelope protein 1	2	function
SYNJ1	synaptojanin 1	2
SYT2	synaptotagmin 2	2
TAF1	TATA-box binding protein associated factor 1	2
TAFAZZIN	tafazzin, phospholipid-lysophospholipid transacylase	2
TARDBP	TAR DNA binding protein	2	function
TARS1	threonyl-tRNA synthetase 1	2
TBC1D24	TBC1 domain family member 24	2
TBC1D32	TBC1 domain family member 32	2
TCAP	titin-cap	2
TCF3	transcription factor 3	2
TCIRG1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	2
TCTN2	tectonic family member 2	2
TCTN3	tectonic family member 3	2
TEK	TEK receptor tyrosine kinase	2
TF	transferrin	2
TFRC	transferrin receptor	2	function
TGM1	transglutaminase 1	2
TGM5	transglutaminase 5	2
THAP1	THAP domain containing 1	2
TIA1	TIA1 cytotoxic granule associated RNA binding protein	2	function
TK2	thymidine kinase 2	2	function
TMEM107	transmembrane protein 107	2
TMEM127	transmembrane protein 127	2
TMEM237	transmembrane protein 237	2
TNFRSF13B	TNF receptor superfamily member 13B	2
TNFRSF13C	TNF receptor superfamily member 13C	2
TNFSF13	TNF superfamily member 13	2
TNFSF13B	TNF superfamily member 13b	2
TNNT3	troponin T3, fast skeletal type	2
TPM2	tropomyosin 2	2
TPSAB1	tryptase alpha/beta 1	2
TRAF3	TNF receptor associated factor 3	2	function
TRAF7	TNF receptor associated factor 7	2
TRDN	triadin	2
TRIM21	tripartite motif containing 21	2
TRIM28	tripartite motif containing 28	2
TRIO	trio Rho guanine nucleotide exchange factor	2
TRIP11	thyroid hormone receptor interactor 11	2
TRMU	tRNA mitochondrial 2-thiouridylase	2
TRPM4	transient receptor potential cation channel subfamily M member 4	2
TRPS1	transcriptional repressor GATA binding 1	2
TRRAP	transformation/transcription domain associated protein	2
TSHB	thyroid stimulating hormone subunit beta	2
TSHR	thyroid stimulating hormone receptor	2
TSHZ1	teashirt zinc finger homeobox 1	2
TSPEAR	thrombospondin type laminin G domain and EAR repeats	2
TTC8	tetratricopeptide repeat domain 8	2	function
TTR	transthyretin	2
TUBB2A	tubulin beta 2A class IIa	2
TUBB3	tubulin beta 3 class III	2
TUBB4B	tubulin beta 4B class IVb	2
TUBG1	tubulin gamma 1	2
TWIST2	twist family bHLH transcription factor 2	2
TYMP	thymidine phosphorylase	2	function
U2AF1	U2 small nuclear RNA auxiliary factor 1	2
UBE3A	ubiquitin protein ligase E3A	2
UNC13D	unc-13 homolog D	2
UNC93B1	unc-93B1 regulator of TLR signaling	2
USH2A	usherin	2	function
USP9X	ubiquitin specific peptidase 9 X-linked	2
VAC14	VAC14 component of PIKFYVE complex	2
VANGL1	VANGL planar cell polarity protein 1	2
VANGL2	VANGL planar cell polarity protein 2	2
VAPB	VAMP associated protein B and C	2
VDR	vitamin D receptor	2	summary: verified
VKORC1	vitamin K epoxide reductase complex subunit 1	2
VLDLR	very low density lipoprotein receptor	2
VSX1	visual system homeobox 1	2
WDPCP	WD repeat containing planar cell polarity effector	2	function
WDR11	WD repeat domain 11	2
WDR81	WD repeat domain 81	2
WHRN	whirlin	2	function
WNK1	WNK lysine deficient protein kinase 1	2
WNT10B	Wnt family member 10B	2
WNT7A	Wnt family member 7A	2
WRN	WRN RecQ like helicase	2
XIAP	X-linked inhibitor of apoptosis	2
XRCC1	X-ray repair cross complementing 1	2
ZAP70	zeta chain of T cell receptor associated protein kinase 70	2
ZEB1	zinc finger E-box binding homeobox 1	2
ZEB2	zinc finger E-box binding homeobox 2	2
ZNF143	zinc finger protein 143	2
ZNF469	zinc finger protein 469	2
ZNF711	ZFX family zinc finger ZNF711	2
ZRSR2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	2
ZSWIM6	zinc finger SWIM-type containing 6	2
AAAS	aladin WD repeat nucleoporin in Triple A Syndrome	1	function
AAGAB	alpha and gamma adaptin binding protein in Punctate Palmoplantar Keratoderma	1	function
ABCB1	ATP binding cassette subfamily B member 1 in Digitalis Poisoning	1
ABCB6	ATP binding cassette subfamily B member 6 (LAN blood group) in Microphthalmia with Coloboma	1
ABCC2	ATP binding cassette subfamily C member 2 in Dubin-Johnson Syndrome	1
ABCD3	ATP binding cassette subfamily D member 3	1	summary: verified function
ABCG2	ATP binding cassette subfamily G member 2 (JR blood group) in Gout	1
ABHD12	abhydrolase domain containing 12, lysophospholipase in PHARC syndrome	1	function
ABHD14B	abhydrolase domain containing 14B in Rosacea	1
ABHD16A	abhydrolase domain containing 16A, phospholipase in Complex Hereditary Spastic Paraplegia	1
ABHD5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	1	summary: verified function
ABO	ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase in Malaria	1
ACACA	acetyl-CoA carboxylase alpha in Chromosome 17q12 Duplication Syndrome	1	function
ACAD8	acyl-CoA dehydrogenase family member 8 in Isobutyryl-CoA Dehydrogenase Deficiency	1	function
ACAD9	acyl-CoA dehydrogenase family member 9 in ACAD9 Deficiency	1	function
ACADM	acyl-CoA dehydrogenase medium chain in Medium Chain Acyl-CoA Dehydrogenase Deficiency	1	function
ACADS	acyl-CoA dehydrogenase short chain in Short-Chain Acyl-CoA Dehydrogenase Deficiency	1	function
ACADSB	acyl-CoA dehydrogenase short/branched chain in 2-Methylbutyryl-CoA Dehydrogenase Deficiency	1	function
ACADVL	acyl-CoA dehydrogenase very long chain in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency	1	function
ACAP1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 in Type 2 Diabetes Mellitus	1	function
ACAT1	acetyl-CoA acetyltransferase 1 in Beta-Ketothiolase Deficiency	1	function
ACE2	angiotensin converting enzyme 2 in COVID-19	1
ACO2	aconitase 2 in Infantile Cerebellar-Retinal Degeneration	1
ACP2	acid phosphatase 2, lysosomal in Lysosomal Acid Phosphatase Deficiency	1
ACP4	acid phosphatase 4 in Amelogenesis Imperfecta	1
ACP5	acid phosphatase 5, tartrate resistant in Spondyloenchondrodysplasia	1
ACSF3	acyl-CoA synthetase family member 3 in Combined Malonic and Methylmalonic Aciduria	1
ACSL1	acyl-CoA synthetase long chain family member 1 in Alzheimer Disease	1
ACSL4	acyl-CoA synthetase long chain family member 4 in Non-Syndromic X-Linked Intellectual Disability	1	function
ACTG1	actin gamma 1 in Baraitser-Winter Cerebrofrontofacial Syndrome	1
ACTG2	actin gamma 2, smooth muscle in Chronic Intestinal Pseudoobstruction	1	function
ACTL6B	actin like 6B in Genetic Developmental and Epileptic Encephalopathy	1
ACTN1	actinin alpha 1 in Platelet-type Bleeding Disorder 15	1
ACTN3	actinin alpha 3 in Sarcopenia	1
ACTN4	actinin alpha 4 in Focal Segmental Glomerulosclerosis	1
ACY1	aminoacylase 1 in Aminoacylase 1 Deficiency	1
ACYP2	acylphosphatase 2 in Cisplatin Toxicity	1
ADA	adenosine deaminase in Severe Combined Immunodeficiency	1	function
ADAM17	ADAM metallopeptidase domain 17 in Alzheimer Disease	1
ADAM22	ADAM metallopeptidase domain 22 in Genetic Developmental and Epileptic Encephalopathy	1
ADAM33	ADAM metallopeptidase domain 33 in Asthma	1
ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10 in Weill-Marchesani syndrome	1
ADAMTS13	ADAM metallopeptidase with thrombospondin type 1 motif 13 in Congenital Thrombotic Thrombocytopenic Purpura	1
ADAMTS17	ADAM metallopeptidase with thrombospondin type 1 motif 17 in Weill-Marchesani syndrome	1
ADAMTSL2	ADAMTS like 2 in Geleophysic Dysplasia	1
ADAR	adenosine deaminase RNA specific in Aicardi-Goutieres Syndrome	1
ADAT3	adenosine deaminase tRNA specific 3 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
ADCY3	adenylate cyclase 3 in Avoidant Restrictive Food Intake Disorder	1
ADCY5	adenylate cyclase 5 in Paroxysmal Dyskinesia	1
ADCY6	adenylate cyclase 6 in Lethal Congenital Contracture Syndrome	1
ADD1	adducin 1 in Essential Hypertension	1
ADD3	adducin 3 in Biliary Atresia	1
ADGRG1	adhesion G protein-coupled receptor G1 in ADGRG1-related Bilateral Frontoparietal Polymicrogyria	1
ADGRG2	adhesion G protein-coupled receptor G2 in Congenital Bilateral Absence of Vas Deferens	1
ADGRG6	adhesion G protein-coupled receptor G6 in Lethal Congenital Contracture Syndrome	1
ADGRV1	adhesion G protein-coupled receptor V1 in Usher Syndrome Type 2	1	function
ADK	adenosine kinase in Adenosine Kinase Deficiency	1
ADNP	activity dependent neuroprotector homeobox in ADNP-Related Syndrome	1	function
ADPRS	ADP-ribosylserine hydrolase in ADPRS-Related Stress-Induced Neurodegeneration	1	function
ADRA2A	adrenoceptor alpha 2A in Familial Partial Lipodystrophy	1
ADRA2C	adrenoceptor alpha 2C in Raynaud Disease	1
ADRB1	adrenoceptor beta 1 in Takotsubo Cardiomyopathy	1
ADRB2	adrenoceptor beta 2 in Takotsubo Cardiomyopathy	1	function
ADSL	adenylosuccinate lyase in Adenylosuccinate Lyase Deficiency	1	function
AEBP1	AE binding protein 1 in Classical-like Ehlers-Danlos Syndrome	1
AFAP1	actin filament associated protein 1 in Aortic Valve Stenosis	1	function
AFF2	ALF transcription elongation factor 2 in Non-Syndromic X-Linked Intellectual Disability	1
AFF3	ALF transcription elongation factor 3 in KINSSHIP Syndrome	1	function
AFF4	ALF transcription elongation factor 4 in CHOPS Syndrome	1	function
AFG2A	AAA ATPase AFG2A in AFG2A-Related Encephalopathy	1
AFG2B	AAA ATPase AFG2B in Neurodevelopmental Disorder with Hearing Loss and Spasticity	1
AGBL1	AGBL carboxypeptidase 1 in Fuchs Endothelial Corneal Dystrophy	1
AGK	acylglycerol kinase in Sengers syndrome	1	function
AGL	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase in Cori Forbes Disease	1	function
AGPAT2	1-acylglycerol-3-phosphate O-acyltransferase 2 in Berardinelli-Seip Congenital Lipodystrophy	1	function
AGPS	alkylglycerone phosphate synthase	1	summary: verified function
AGT	angiotensinogen in Essential Hypertension	1	function
AGTPBP1	ATP/GTP binding carboxypeptidase 1 in Neurodegeneration Childhood-onset With Cerebellar Atrophy	1	function
AGTR1	angiotensin II receptor type 1 in Marfan Syndrome	1
AHCY	adenosylhomocysteinase	1	summary: verified function
AHI1	Abelson helper integration site 1 in Joubert syndrome	1	function
AICDA	activation induced cytidine deaminase in Hyper-IgM Syndrome Type 2	1	function
AIPL1	AIP like 1 HSP90 co-chaperone in AIPL1-Related Retinopathy	1	function
AKAP9	A-kinase anchoring protein 9 in Familial Long QT Syndrome	1
AKR1D1	aldo-keto reductase family 1 member D1 in Inborn Disorder of Bile Acid Synthesis	1	function
AKT2	AKT serine/threonine kinase 2 in Familial Partial Lipodystrophy	1
ALDH1A1	aldehyde dehydrogenase 1 family member A1 in Mucous Membrane Pemphigoid	1
ALDH3A1	aldehyde dehydrogenase 3 family member A1 in Keratoconus	1
ALDH3A2	aldehyde dehydrogenase 3 family member A2 in Sjogren-Larsson Syndrome	1
ALDH4A1	aldehyde dehydrogenase 4 family member A1	1	summary: verified function
ALDH5A1	aldehyde dehydrogenase 5 family member A1 in Succinic Semialdehyde Dehydrogenase Deficiency	1	function
ALDH6A1	aldehyde dehydrogenase 6 family member A1 in Methylmalonate Semialdehyde Dehydrogenase Deficiency	1	function
ALDH7A1	aldehyde dehydrogenase 7 family member A1	1	summary: verified function
ALDOA	aldolase, fructose-bisphosphate A in Glycogen Storage Disease Due To Aldolase A Deficiency	1	function
ALG1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase in ALG1-congenital disorder of glycosylation	1	function
ALG10B	ALG10 alpha-1,2-glucosyltransferase B in Familial Long QT Syndrome	1
ALG11	ALG11 alpha-1,2-mannosyltransferase in ALG11-congenital disorder of glycosylation	1	function
ALG12	ALG12 alpha-1,6-mannosyltransferase in ALG12-congenital disorder of glycosylation	1	function
ALG13	ALG13 UDP-N-acetylglucosaminyltransferase subunit in Genetic Developmental and Epileptic Encephalopathy	1	function
ALG14	ALG14 UDP-N-acetylglucosaminyltransferase subunit in Congenital Myasthenic Syndrome 15	1	function
ALG2	ALG2 alpha-1,3/1,6-mannosyltransferase in ALG2-congenital disorder of glycosylation	1	function
ALG3	ALG3 alpha-1,3- mannosyltransferase in ALG3-congenital disorder of glycosylation	1	function
ALKBH1	alkB homolog 1, histone H2A dioxygenase in Combined oxidative phosphorylation deficiency 48	1	function
ALKBH8	alkB homolog 8, tRNA methyltransferase in Autosomal Recessive Non-Syndromic Intellectual Disability	1
ALOX15	arachidonate 15-lipoxygenase in Skeletal Fluorosis	1
ALOX5	arachidonate 5-lipoxygenase in Mucous Membrane Pemphigoid	1
ALS2	alsin Rho guanine nucleotide exchange factor ALS2 in Juvenile Amyotrophic Lateral Sclerosis	1	function
ALX1	ALX homeobox 1 in Frontonasal Dysplasia	1	function
ALX3	ALX homeobox 3 in Frontonasal Dysplasia	1	function
ALX4	ALX homeobox 4 in Frontonasal Dysplasia	1	function
AMBN	ameloblastin in Amelogenesis Imperfecta	1
AMELX	amelogenin X-linked in Amelogenesis Imperfecta	1
AMER1	APC membrane recruitment protein 1 in Wilms Tumor	1	function
AMFR	autocrine motility factor receptor in Spastic Paraplegia 89 Autosomal Recessive	1
AMH	anti-Mullerian hormone in Persistent Mullerian Duct Syndrome	1
AMHR2	anti-Mullerian hormone receptor type 2 in Persistent Mullerian Duct Syndrome	1
AMMECR1	AMMECR nuclear protein 1 in Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis	1
AMT	aminomethyltransferase in Nonketotic Hyperglycinemia	1	function
ANAPC1	anaphase promoting complex subunit 1 in Rothmund-Thomson Syndrome	1
ANAPC7	anaphase promoting complex subunit 7 in Ferguson-Bonni neurodevelopmental syndrome	1
ANG	angiogenin in Amyotrophic Lateral Sclerosis	1	function
ANGPTL3	angiopoietin like 3	1	summary: verified function
ANK1	ankyrin 1 in Hereditary Spherocytosis	1	function
ANK3	ankyrin 3 in Bipolar Disorder	1
ANKLE2	ankyrin repeat and LEM domain containing 2 in Autosomal Recessive Primary Microcephaly	1
ANKRD1	ankyrin repeat domain 1 in Dilated Cardiomyopathy	1
ANKRD11	ankyrin repeat domain 11 in KBG Syndrome	1	function
ANKRD17	ankyrin repeat domain 17 in Chopra-Amiel-Gordon Syndrome	1	function
ANKS6	ankyrin repeat and sterile alpha motif domain containing 6 in Nephronophthisis	1	function
ANLN	anillin, actin binding protein in Focal Segmental Glomerulosclerosis	1
ANO1	anoctamin 1 in Moyamoya Disease	1
ANO10	in Autosomal Recessive Spinocerebellar Ataxia 10	1
ANO6	anoctamin 6 in Scott Syndrome	1
ANOS1	anosmin 1 in Kallmann Syndrome	1	function
ANTXR1	ANTXR cell adhesion molecule 1 in GAPO Syndrome	1	function
ANXA1	annexin A1 in Stevens-Johnson Syndrome	1
AP1B1	adaptor related protein complex 1 subunit beta 1 in Ichthyosiform Erythroderma, Corneal Involvement, and Hearing Loss	1	function
AP1S1	adaptor related protein complex 1 subunit sigma 1 in MEDNIK syndrome	1	function
AP1S2	adaptor related protein complex 1 subunit sigma 2 in Congenital Hydrocephalus	1	function
AP1S3	adaptor related protein complex 1 subunit sigma 3 in Psoriasis	1	function
AP2M1	adaptor related protein complex 2 subunit mu 1 in Autosomal Dominant Non-Syndromic Intellectual Disability	1	function
AP3B1	adaptor related protein complex 3 subunit beta 1 in Hermansky-Pudlak Syndrome	1	function
AP3B2	adaptor related protein complex 3 subunit beta 2 in Genetic Developmental and Epileptic Encephalopathy	1	function
AP3D1	adaptor related protein complex 3 subunit delta 1 in Hermansky-Pudlak Syndrome	1	function
AP4B1	adaptor related protein complex 4 subunit beta 1 in Complex Hereditary Spastic Paraplegia	1	function
AP4M1	adaptor related protein complex 4 subunit mu 1 in Complex Hereditary Spastic Paraplegia	1	function
AP4S1	adaptor related protein complex 4 subunit sigma 1 in Complex Hereditary Spastic Paraplegia	1	function
AP5Z1	adaptor related protein complex 5 subunit zeta 1 in Hereditary Spastic Paraplegia 48	1	function
APOA1	apolipoprotein A1 in Familial Visceral Amyloidosis	1
APOA2	apolipoprotein A2 in Familial Visceral Amyloidosis	1
APOC2	apolipoprotein C2 in Familial Chylomicronemia Syndrome	1
APPL1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 in Diabetes mellitus	1
APRT	adenine phosphoribosyltransferase in Adenine Phosphoribosyltransferase Deficiency	1	function
APTX	aprataxin in Ataxia With Oculomotor Apraxia Type 1	1
AQP2	aquaporin 2 in Autosomal Dominant Hypocalcemia 1	1
ARAF	A-Raf proto-oncogene, serine/threonine kinase in Langerhans Cell Histiocytosis	1
ARC	activity regulated cytoskeleton associated protein in Alzheimer Disease	1	function
ARF3	in ARF3-related Neurodevelopmental Disorder	1
ARFGEF2	ARF guanine nucleotide exchange factor 2 in Periventricular Nodular Heterotopia	1	function
ARHGAP19	Rho GTPase activating protein 19 in Charcot-Marie-Tooth Disease Type 2	1
ARHGAP31	Rho GTPase activating protein 31 in Adams-Oliver Syndrome	1
ARHGAP36	Rho GTPase activating protein 36 in Bazex-Dupre-Christol Syndrome	1	function
ARHGDIA	Rho GDP dissociation inhibitor alpha in ARHGDIA-Related Steroid-Resistant Nephrotic Syndrome	1
ARHGEF1	Rho guanine nucleotide exchange factor 1 in Immunodeficiency 62	1
ARHGEF28	Rho guanine nucleotide exchange factor 28 in Amyotrophic Lateral Sclerosis	1
ARHGEF7	Rho guanine nucleotide exchange factor 7 in Familial Congenital Mirror Movements	1
ARHGEF9	Cdc42 guanine nucleotide exchange factor 9 in Developmental and Epileptic Encephalopathy 8	1	function
ARID2	AT-rich interaction domain 2 in Coffin-Siris syndrome	1
ARL13B	ARF like GTPase 13B in Joubert syndrome	1
ARL2BP	ARF like GTPase 2 binding protein in Retinitis Pigmentosa With or Without Situs Inversus	1	function
ARL3	ARF like GTPase 3 in Joubert syndrome	1
ARL6IP1	in Complex Hereditary Spastic Paraplegia	1
ARMC5	armadillo repeat containing 5 in ACTH-Independent Macronodular Adrenal Hyperplasia 3	1
ARMC9	armadillo repeat containing 9 in Joubert syndrome	1
ARMS2	age-related maculopathy susceptibility 2 in Age-Related Macular Degeneration	1
ARPC1B	actin related protein 2/3 complex subunit 1B in ARPC1B Deficiency	1	function
ARPP21	cAMP regulated phosphoprotein 21 in Amyotrophic Lateral Sclerosis	1
ARSA	arylsulfatase A in Metachromatic Leukodystrophy	1	function
ARSG	arylsulfatase G in Usher Syndrome Type 4	1
ARSK	arylsulfatase family member K in Mucopolysaccharidosis type X	1
ARSL	arylsulfatase L in X-linked Chondrodysplasia Punctata 1	1	function
ARV1	ARV1 fatty acid homeostasis modulator in Developmental And Epileptic Encephalopathy 38	1
ASGR1	asialoglycoprotein receptor 1 in Hereditary Transthyretin Amyloidosis	1
ASH1L	ASH1 like histone lysine methyltransferase in Intellectual Disability Autosomal Dominant 52	1	function
ASNS	asparagine synthetase (glutamine-hydrolyzing) in Asparagine synthetase deficiency	1
ASPA	aspartoacylase in Canavan disease	1	function
ASPM	assembly factor for spindle microtubules in Autosomal Recessive Primary Microcephaly	1	function
ASPSCR1	ASPSCR1 tether for SLC2A4, UBX domain containing in Alveolar Soft Part Sarcoma	1
ASXL2	ASXL transcriptional regulator 2 in Shashi-Pena Syndrome	1	function
ASXL3	ASXL transcriptional regulator 3 in Bainbridge-Ropers syndrome	1	function
ATAD1	ATPase family AAA domain containing 1 in Hereditary Hyperekplexia	1	function
ATF4	activating transcription factor 4 in Ewing Sarcoma	1	function
ATG16L1	autophagy related 16 like 1 in Crohn Disease	1	function
ATG7	autophagy related 7 in Spinocerebellar Ataxia, Autosomal Recessive 31	1	function
ATN1	atrophin 1 in Dentatorubral-Pallidoluysian Atrophy	1	function
ATP2A1	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 in Brody Myopathy	1
ATP2B1	ATPase plasma membrane Ca2+ transporting 1 in Skeletal Fluorosis	1
ATP2B2	ATPase plasma membrane Ca2+ transporting 2 in Hearing Loss Autosomal Dominant 82	1	function
ATP2C1	ATPase secretory pathway Ca2+ transporting 1 in Hailey-Hailey Disease	1
ATP4A	ATPase H+/K+ transporting subunit alpha in Autoimmune Gastritis	1
ATP4B	ATPase H+/K+ transporting subunit beta in Autoimmune Gastritis	1
ATP5F1E	ATP synthase F1 subunit epsilon	1	summary: verified function
ATP6AP1	ATPase H+ transporting accessory protein 1 in Granular Cell Tumor	1	function
ATP6V0A1	ATPase H+ transporting V0 subunit a1 in Genetic Developmental and Epileptic Encephalopathy	1	function
ATP6V0A2	ATPase H+ transporting V0 subunit a2 in Autosomal Recessive Cutis Laxa Type 2A	1	function
ATP6V0A4	ATPase H+ transporting V0 subunit a4 in Renal Tubular Acidosis, Distal, 3, With or Without Sensorineural Hearing Loss	1	function
ATP6V0C	ATPase H+ transporting V0 subunit c in ATP6V0C-Related Epilepsy	1	function
ATP6V1A	ATPase H+ transporting V1 subunit A in Genetic Developmental and Epileptic Encephalopathy	1	function
ATP6V1B1	ATPase H+ transporting V1 subunit B1 in Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	1	function
ATP7A	ATPase copper transporting alpha in Menkes Disease	1
ATP8A2	ATPase phospholipid transporting 8A2 in Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome	1	function
ATPAF2	ATP synthase mitochondrial F1 complex assembly factor 2	1	summary: verified function
ATXN10	ataxin 10 in Autosomal Dominant Cerebellar Ataxia	1
ATXN7	ataxin 7 in Autosomal Dominant Cerebellar Ataxia	1
ATXN8	ataxin 8 in Spinocerebellar Ataxia Type 8	1
ATXN8OS	ATXN8 opposite strand lncRNA in Spinocerebellar Ataxia Type 8	1
AUH	AU RNA binding methylglutaconyl-CoA hydratase in 3-Methylglutaconic Aciduria Type I	1	function
AURKA	aurora kinase A in Fibrolamellar Hepatocellular Carcinoma	1
AVIL	in Nephrotic Syndrome Type 21	1
AVP	arginine vasopressin in Neurohypophyseal Diabetes Insipidus	1
AXIN2	axin 2 in Tooth Agenesis	1	function
B3GALNT2	beta-1,3-N-acetylgalactosaminyltransferase 2 in Dystroglycanopathy	1	function
B3GALT6	beta-1,3-galactosyltransferase 6 in Spondylodysplastic Ehlers-Danlos Syndrome	1	function
B3GAT3	beta-1,3-glucuronyltransferase 3 in Larsen-like Syndrome B3GAT3 Type	1
B3GLCT	beta 3-glucosyltransferase in Peters plus syndrome	1	function
B4GALNT1	beta-1,4-N-acetyl-galactosaminyltransferase 1 in Complex Hereditary Spastic Paraplegia	1	function
B4GALT1	beta-1,4-galactosyltransferase 1 in B4GALT1-Congenital Disorder of Glycosylation	1	function
B4GALT7	beta-1,4-galactosyltransferase 7 in Spondylodysplastic Ehlers-Danlos Syndrome	1	function
B4GAT1	beta-1,4-glucuronyltransferase 1 in Dystroglycanopathy	1
BAAT	bile acid-CoA:amino acid N-acyltransferase in Inborn Disorder of Bile Acid Synthesis	1	function
BANF1	barrier to autointegration nuclear assembly factor 1 in Nestor-Guillermo progeria syndrome	1
BASP1	brain abundant membrane attached signal protein 1 in Leptospirosis	1
BBIP1	BBSome interacting protein 1 in Bardet-Biedl syndrome	1	function
BBOX1	gamma-butyrobetaine hydroxylase 1 in BBOX1-Related Carnitine Biosynthesis Deficiency	1
BBS10	Bardet-Biedl syndrome 10 in Bardet-Biedl syndrome	1	function
BBS12	Bardet-Biedl syndrome 12 in Bardet-Biedl syndrome	1	function
BBS4	Bardet-Biedl syndrome 4 in Bardet-Biedl syndrome	1	function
BBS5	Bardet-Biedl syndrome 5 in Bardet-Biedl syndrome	1	function
BBS7	Bardet-Biedl syndrome 7 in Bardet-Biedl syndrome	1	function
BCAP31	B cell receptor associated protein 31 in Deafness Dystonia and Cerebral Hypomyelination	1	function
BCKDHA	branched chain keto acid dehydrogenase E1 subunit alpha in Maple Syrup Urine Disease	1	function
BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta in Maple Syrup Urine Disease	1	function
BCL2L1	BCL2 like 1 in Anaplastic Large Cell Lymphoma	1	function
BCL6	BCL6 transcription repressor in Primary_Tonsillar_Lymphoma	1
BCS1L	BCS1 ubiquinol-cytochrome c reductase complex chaperone in Bjornstad Syndrome	1	function
BDH1	3-hydroxybutyrate dehydrogenase 1 in Chromosome 3q29 Microduplication Syndrome	1	function
BEND2	BEN domain containing 2 in Pancreatic Neuroendocrine Tumor	1
BFSP1	in Cataract 33	1
BGN	biglycan in Meester-Loeys Syndrome	1
BHLHA9	basic helix-loop-helix family member a9 in Split Hand-Foot Malformation	1
BICC1	BicC family RNA binding protein 1 in Primary_Ciliary_Dyskinesia	1	function
BICRA	BRD4 interacting chromatin remodeling complex associated protein in Coffin-Siris syndrome	1
BIRC5	baculoviral IAP repeat containing 5 in Ewing Sarcoma	1	function
BLNK	B cell linker in Autosomal Agammaglobulinemia	1
BLOC1S1	biogenesis of lysosomal organelles complex 1 subunit 1 in BLOC1S1-related Complex Neurodevelopmental Disorder with Leukodystrophy	1
BLOC1S3	biogenesis of lysosomal organelles complex 1 subunit 3 in Hermansky-Pudlak Syndrome	1
BLOC1S5	biogenesis of lysosomal organelles complex 1 subunit 5 in Hermansky-Pudlak Syndrome	1
BLOC1S6	biogenesis of lysosomal organelles complex 1 subunit 6 in Hermansky-Pudlak Syndrome	1
BMP1	bone morphogenetic protein 1 in Osteogenesis Imperfecta Type XIII	1
BMP4	bone morphogenetic protein 4 in Frias syndrome	1
BMP6	bone morphogenetic protein 6 in Hemochromatosis	1
BNIP3	BCL2 interacting protein 3 in FBXL4-Related Mitochondrial DNA Depletion Syndrome	1
BNIP3L	BCL2 interacting protein 3 like in FBXL4-Related Mitochondrial DNA Depletion Syndrome	1	function
BOLA3	bolA family member 3 in Multiple Mitochondrial Dysfunctions Syndrome 2	1	function
BPNT2	3'(2'), 5'-bisphosphate nucleotidase 2 in Chondrodysplasia With Joint Dislocations gPAPP Type	1
BPTF	bromodomain PHD finger transcription factor in BPTF-Related Neurodevelopmental Disorder	1
BRAT1	BRCA1 associated ATM activator 1 in Genetic Developmental and Epileptic Encephalopathy	1
BRD2	bromodomain containing 2 in SPOP-Related Neurodevelopmental Disorder	1
BRD3	bromodomain containing 3 in SPOP-Related Neurodevelopmental Disorder	1
BRIP1	BRCA1 interacting DNA helicase 1 in Fanconi_Anemia	1	function
BRWD1	in Primary_Ciliary_Dyskinesia	1
BRWD3	in Intellectual Disability X-linked 93	1
BSND	barttin CLCNK type accessory subunit beta in Bartter syndrome	1
BTBD9	BTB domain containing 9 in Restless Legs Syndrome	1
BTD	biotinidase	1	summary: verified function
BTG1	BTG anti-proliferation factor 1 in Spondyloepiphyseal Dysplasia, Nishimura Type	1
BTRC	beta-transducin repeat containing E3 ubiquitin protein ligase in Split Hand-Foot Malformation	1
BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B in Mosaic Variegated Aneuploidy Syndrome	1	function
BUB3	BUB3 mitotic checkpoint protein in Mosaic Variegated Aneuploidy Syndrome	1	function
C10orf71	chromosome 10 open reading frame 71 in Dilated Cardiomyopathy	1
C12orf57	chromosome 12 open reading frame 57 in Temtamy Syndrome	1
C1GALT1	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 in IgA Nephropathy	1	function
C1QA	complement C1q A chain in Alzheimer Disease	1
C2	complement C2 in Complement Component 2 Deficiency	1
C2CD3	C2 domain containing 3 centriole elongation regulator in Orofaciodigital Syndrome	1
C3orf52	chromosome 3 open reading frame 52 in Isolated Woolly Hair	1
C5AR1	complement C5a receptor 1 in Mucous Membrane Pemphigoid	1
CA2	carbonic anhydrase 2 in Autosomal Recessive Osteopetrosis 3	1
CA3	carbonic anhydrase 3 in Essential Tremor	1
CA5A	carbonic anhydrase 5A in Carbonic Anhydrase VA Deficiency	1
CA8	carbonic anhydrase 8 (inactive) in Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome	1	function
CABP2	calcium binding protein 2 in Autosomal Recessive Nonsyndromic Hearing Loss 93	1
CACNA1B	calcium voltage-gated channel subunit alpha1 B in Pediatric Acute-onset Neuropsychiatric Syndrome	1
CACNA1E	calcium voltage-gated channel subunit alpha1 E in CACNA1E-Related Developmental and Epileptic Encephalopathy	1
CACNA1G	calcium voltage-gated channel subunit alpha1 G in Autosomal Dominant Cerebellar Ataxia Type III	1
CACNA1I	calcium voltage-gated channel subunit alpha1 I in Familial Hemiplegic Migraine	1
CACNB4	calcium voltage-gated channel auxiliary subunit beta 4 in Juvenile Myoclonic Epilepsy	1
CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1	summary: verified function
CADM3	cell adhesion molecule 3 in Charcot-Marie-Tooth Disease Type 2	1
CAMK2A	calcium/calmodulin dependent protein kinase II alpha in Autosomal Dominant Non-Syndromic Intellectual Disability	1	function
CAMK2B	calcium/calmodulin dependent protein kinase II beta in Autosomal Dominant Non-Syndromic Intellectual Disability	1
CAMK2G	calcium/calmodulin dependent protein kinase II gamma in Autosomal Dominant Non-Syndromic Intellectual Disability	1
CAMK4	calcium/calmodulin dependent protein kinase IV in Temtamy Syndrome	1
CAMLG	calcium modulating ligand in CAMLG-CDG	1	function
CANT1	calcium activated nucleotidase 1 in Multiple Epiphyseal Dysplasia	1
CAPN1	calpain 1 in Complex Hereditary Spastic Paraplegia	1
CAPN10	calpain 10 in Type 2 Diabetes Mellitus	1
CAPN14	calpain 14 in Eosinophilic Esophagitis	1
CAPN15	calpain 15 in Oculogastrointestinal-neurodevelopmental syndrome	1
CAPN5	calpain 5 in CAPN5-Related Vitreoretinopathy	1
CAPNS1	calpain small subunit 1 in Heritable Pulmonary Arterial Hypertension	1
CAPRIN1	cell cycle associated protein 1 in CAPRIN1 Related Neurodevelopmental Disorder	1
CARD10	caspase recruitment domain family member 10 in Immunodeficiency 89 and Autoimmunity	1
CARD14	caspase recruitment domain family member 14 in Psoriasis	1
CARMIL2	capping protein regulator and myosin 1 linker 2 in CARMIL2 Deficiency	1
CARS1	cysteinyl-tRNA synthetase 1 in Trichothiodystrophy	1
CASP10	caspase 10 in Autoimmune Lymphoproliferative Syndrome	1
CASP14	caspase 14 in Autosomal Recessive Congenital Ichthyosis	1	function
CASP3	caspase 3 in Kawasaki Disease	1	function
CASQ1	in Myopathy Due To Calsequestrin And SERCA1 Protein Overload	1
CAV2	caveolin 2 in Amyotrophic Lateral Sclerosis	1
CAVIN1	caveolae associated protein 1 in Berardinelli-Seip Congenital Lipodystrophy	1
CBFA2T3	CBFA2/RUNX1 partner transcriptional co-repressor 3 in Acute Megakaryoblastic Leukemia	1
CBLIF	cobalamin binding intrinsic factor in Hereditary intrinsic factor deficiency	1	function
CBR3	carbonyl reductase 3 in Anthracycline-Induced Cardiomyopathy	1
CBX2	chromobox 2 in 46,XY Sex Reversal 5	1
CBY1	chibby 1, beta catenin antagonist in Joubert syndrome	1
CBY2	chibby family member 2 in Intracranial berry aneurysm	1
CC2D1A	coiled-coil and C2 domain containing 1A in Autosomal Recessive Non-Syndromic Intellectual Disability	1
CCBE1	collagen and calcium binding EGF domains 1 in Hennekam lymphangiectasia-lymphedema syndrome 1	1
CCDC103	in Primary_Ciliary_Dyskinesia	1
CCDC134	coiled-coil domain containing 134 in Osteogenesis Imperfecta Type XXII	1
CCDC22	CCC complex scaffolding subunit CCDC22 in Ritscher-Schinzel Syndrome	1
CCDC32	coiled-coil domain containing 32 in Cardiofacioneurodevelopmental Syndrome	1
CCDC39	coiled-coil domain 39 molecular ruler complex subunit in Primary_Ciliary_Dyskinesia	1
CCDC40	coiled-coil domain 40 molecular ruler complex subunit in Primary_Ciliary_Dyskinesia	1
CCDC77	coiled-coil domain containing 77 in Hashimoto's Thyroiditis	1
CCDC78	in Centronuclear Myopathy	1
CCDC8	coiled-coil domain containing 8 subunit of 3M complex in 3-M Syndrome	1
CCDC93	CCC complex scaffolding subunit CCDC93 in Ritscher-Schinzel Syndrome	1
CCL2	C-C motif chemokine ligand 2 in Leptospirosis	1
CCL26	C-C motif chemokine ligand 26 in Eosinophilic Esophagitis	1
CCM2	CCM2 scaffold protein in Cerebral Cavernous Malformation	1
CCN2	cellular communication network factor 2 in CCN2-Related Kyphomelic Dysplasia	1
CCN6	cellular communication network factor 6 in Progressive Pseudorheumatoid Arthropathy of Childhood	1
CCND2	cyclin D2 in Embryonal Carcinoma	1
CCND3	cyclin D3 in Burkitt Lymphoma	1
CCNE1	cyclin E1 in Ovarian High-Grade Serous Carcinoma	1	function
CCNF	cyclin F in Amyotrophic Lateral Sclerosis	1
CCNO	cyclin O in Primary_Ciliary_Dyskinesia	1
CCR4	C-C motif chemokine receptor 4 in Adult T-Cell Leukemia/Lymphoma	1
CCT5	chaperonin containing TCP1 subunit 5 in Complex Hereditary Spastic Paraplegia	1
CD109	CD109 molecule in Otosclerosis	1
CD14	CD14 molecule in Byssinosis	1
CD151	CD151 molecule (Raph blood group) in Epidermolysis Bullosa Simplex 7 With Nephropathy And Deafness	1
CD24	CD24 molecule in Pancreatic Ductal Adenocarcinoma	1
CD247	CD247 molecule in Immunodeficiency 25	1	function
CD27	CD27 molecule in CD27-related lymphoproliferative and immune disorder	1
CD2AP	CD2 associated protein in Focal Segmental Glomerulosclerosis	1	function
CD320	CD320 molecule in Methylmalonic Acidemia	1	function
CD36	CD36 molecule (CD36 blood group) in Meningioma	1
CD3E	CD3 epsilon subunit of T-cell receptor complex in Immunodeficiency 18	1
CD3G	CD3 gamma subunit of T-cell receptor complex in Combined immunodeficiency due to CD3gamma deficiency	1
CD4	CD4 molecule in Immunodeficiency 79	1
CD40LG	CD40 ligand in Hyper-IgM Syndrome Type 1	1
CD44	CD44 molecule (IN blood group) in TARP syndrome	1
CD79A	CD79a molecule in Autosomal Agammaglobulinemia	1
CD81	CD81 molecule in Common Variable Immunodeficiency	1
CDAN1	codanin 1 in Congenital Dyserythropoietic Anemia	1
CDC14A	cell division cycle 14A in Autosomal Recessive Nonsyndromic Hearing Loss 32	1
CDC42	cell division cycle 42 in ARHGDIA-Related Steroid-Resistant Nephrotic Syndrome	1
CDC45	cell division cycle 45 in Meier-Gorlin syndrome	1
CDC6	cell division cycle 6 in Meier-Gorlin syndrome	1
CDCA7	cell division cycle associated 7 in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	1
CDH3	cadherin 3 in Hypotrichosis with Juvenile Macular Dystrophy	1
CDHR3	cadherin related family member 3 in Asthma	1
CDIN1	CDAN1 interacting nuclease 1 in Congenital Dyserythropoietic Anemia	1
CDK5	cyclin dependent kinase 5 in Lissencephaly Spectrum Disorders	1	function
CDK5RAP2	CDK5 regulatory subunit associated protein 2 in Autosomal Recessive Primary Microcephaly	1
CDK6	cyclin dependent kinase 6 in Autosomal Recessive Primary Microcephaly	1
CDSN	corneodesmosin in Peeling Skin Syndrome	1
CDT1	chromatin licensing and DNA replication factor 1 in Meier-Gorlin syndrome	1
CEACAM16	CEA cell adhesion molecule 16, tectorial membrane component in Autosomal Dominant Nonsyndromic Hearing Loss 4B	1
CEBPA	CCAAT enhancer binding protein alpha in Acute Myeloid Leukemia with CEBPA Somatic Mutations	1
CEBPE	CCAAT enhancer binding protein epsilon in Pelger-Huet-like Anomaly and Episodic Fever with Abdominal Pain	1
CEL	carboxyl ester lipase in Diabetes mellitus	1
CELF2	CUGBP Elav-like family member 2 in Genetic Developmental and Epileptic Encephalopathy	1
CELF4	CUGBP Elav-like family member 4 in Anthracycline-Induced Cardiomyopathy	1
CELSR3	cadherin EGF LAG seven-pass G-type receptor 3 in Exstrophy-Epispadias Complex	1
CENATAC	centrosomal AT-AC splicing factor in Mosaic Variegated Aneuploidy Syndrome	1
CENPE	centromere protein E in Autosomal Recessive Primary Microcephaly	1
CENPF	centromere protein F in Stromme Syndrome	1	function
CEP104	centrosomal protein 104 in Joubert syndrome	1
CEP120	centrosomal protein 120 in Joubert syndrome	1
CEP135	centrosomal protein 135 in Autosomal Recessive Primary Microcephaly	1
CEP19	centrosomal protein 19 in Bardet-Biedl syndrome	1
CEP250	centrosomal protein 250 in Cone-rod dystrophy and hearing loss 2	1
CEP295	centrosomal protein 295 in Seckel syndrome	1
CEP41	centrosomal protein 41 in Joubert syndrome	1
CEP57	centrosomal protein 57 in Mosaic Variegated Aneuploidy Syndrome	1
CEP63	centrosomal protein 63 in Seckel syndrome	1
CEP78	centrosomal protein 78 in Cone-rod dystrophy and hearing loss 1	1
CEP83	centrosomal protein 83 in Nephronophthisis	1
CEP85L	centrosomal protein 85L in Lissencephaly Spectrum Disorders	1
CERKL	CERK like autophagy regulator in CERKL-Related Retinopathy	1
CERS1	ceramide synthase 1 in Progressive Myoclonic Epilepsy Type 8	1	function
CERS3	ceramide synthase 3 in Autosomal Recessive Congenital Ichthyosis	1	function
CERT1	ceramide transporter 1 in Intellectual Disability Autosomal Dominant 34	1
CETN3	centrin 3 in Autosomal Recessive Primary Microcephaly	1
CFAP298	in Primary_Ciliary_Dyskinesia	1
CFAP43	cilia and flagella associated protein 43 in Normal Pressure Hydrocephalus	1
CFAP46	cilia and flagella associated protein 46 in Primary_Ciliary_Dyskinesia	1
CFAP57	cilia and flagella associated protein 57 in Primary_Ciliary_Dyskinesia	1
CFAP74	cilia and flagella associated protein 74 in Primary_Ciliary_Dyskinesia	1
CFHR1	complement factor H related 1 in Atypical Hemolytic Uremic Syndrome	1
CFHR3	complement factor H related 3 in Atypical Hemolytic Uremic Syndrome	1
CFHR5	complement factor H related 5 in Glomerulonephritis	1
CFL2	cofilin 2 in Nemaline Myopathy	1
CHCHD10	coiled-coil-helix-coiled-coil-helix domain containing 10 in Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	1
CHCHD2	coiled-coil-helix-coiled-coil-helix domain containing 2 in Parkinson's Disease	1
CHD1	chromodomain helicase DNA binding protein 1 in Pilarowski-Bjornsson syndrome	1
CHD3	chromodomain helicase DNA binding protein 3 in Snijders Blok-Campeau Syndrome	1
CHD5	chromodomain helicase DNA binding protein 5 in Parenti-Mignot Neurodevelopmental Syndrome	1
CHKA	choline kinase alpha in Neurodevelopmental Disorder with Microcephaly, Movement Abnormalities, and Seizures	1	function
CHL1	cell adhesion molecule L1 like in 3p- Syndrome	1
CHMP1A	charged multivesicular body protein 1A in Pontocerebellar Hypoplasia	1	function
CHMP2B	in Frontotemporal Dementia	1
CHMP6	charged multivesicular body protein 6 in Rosacea	1	function
CHN1	chimerin 1 in Duane Retraction Syndrome	1
CHP1	calcineurin like EF-hand protein 1 in Autosomal Recessive Spastic Ataxia 9	1
CHRM2	cholinergic receptor muscarinic 2 in Atrial Fibrillation	1
CHRM3	cholinergic receptor muscarinic 3 in Prune Belly Syndrome	1
CHRM4	cholinergic receptor muscarinic 4 in Schizophrenia	1
CHRNA3	cholinergic receptor nicotinic alpha 3 subunit in Autoimmune Autonomic Ganglionopathy	1
CHRNA4	cholinergic receptor nicotinic alpha 4 subunit in Familial Sleep-Related Hypermotor Epilepsy	1
CHRNB1	cholinergic receptor nicotinic beta 1 subunit in Congenital Myasthenic Syndrome	1
CHRNB2	cholinergic receptor nicotinic beta 2 subunit in Familial Sleep-Related Hypermotor Epilepsy	1
CHRNB4	cholinergic receptor nicotinic beta 4 subunit in Autoimmune Autonomic Ganglionopathy	1
CHRND	cholinergic receptor nicotinic delta subunit in Congenital Myasthenic Syndrome	1
CHRNE	cholinergic receptor nicotinic epsilon subunit in Congenital Myasthenic Syndrome	1
CHRNG	cholinergic receptor nicotinic gamma subunit in Autosomal Recessive Multiple Pterygium Syndrome	1
CHST14	carbohydrate sulfotransferase 14 in Musculocontractural Ehlers-Danlos Syndrome	1
CHST3	carbohydrate sulfotransferase 3 in CHST3-Related Skeletal Dysplasia	1
CHST8	carbohydrate sulfotransferase 8 in Peeling Skin Syndrome	1
CHSY1	chondroitin sulfate synthase 1 in Temtamy Preaxial Brachydactyly Syndrome	1
CIDEC	cell death inducing DFFA like effector c in Familial Partial Lipodystrophy	1
CILK1	ciliogenesis associated kinase 1 in Cranioectodermal Dysplasia	1
CIT	citron rho-interacting serine/threonine kinase in Autosomal Recessive Primary Microcephaly	1
CITED2	Cbp/p300 interacting transactivator with ED-rich tail 2 in Atrial Septal Defect	1
CKAP2L	cytoskeleton associated protein 2L in Filippi Syndrome	1
CLCN1	chloride voltage-gated channel 1 in Thomsen and Becker disease	1
CLCN5	Cl-/H+ antiporter 5 in Dent Disease	1
CLCNKA	chloride voltage-gated channel Ka in Bartter syndrome	1
CLDN1	claudin 1 in Sclerosing Cholangitis	1
CLDN14	claudin 14 in Autosomal Dominant Hypocalcemia 1	1
CLDN18	claudin 18 in Gastric Adenocarcinoma	1
CLDN9	claudin 9 in Hearing Loss Autosomal Recessive 116	1
CLIC5	CLIC family member 5 in Autosomal Recessive Nonsyndromic Hearing Loss 103	1
CLOCK	clock circadian regulator in Delayed Sleep Phase Syndrome	1
CLP1	cleavage factor polyribonucleotide kinase subunit 1 in Pontocerebellar Hypoplasia	1
CLPB	in 3-Methylglutaconic Aciduria Type VIIB	1
CLPP	caseinolytic mitochondrial matrix peptidase proteolytic subunit in Perrault Syndrome	1
CLRN1	clarin 1 in Usher Syndrome Type 3	1	function
CLTC	clathrin heavy chain in Autosomal Dominant Non-Syndromic Intellectual Disability	1	function
CLTRN	collectrin, amino acid transport regulator in Hartnup Disease	1
CMPK2	cytidine/uridine monophosphate kinase 2 in Bilateral Striopallidodentate Calcinosis	1
CNBP	CCHC-type zinc finger nucleic acid binding protein in Agnathia-Otocephaly Complex	1
CNGA1	in CNGA1-Related Retinopathy	1
CNGB1	cyclic nucleotide gated channel subunit beta 1 in CNGB1-Related Retinopathy	1
CNOT1	CCR4-NOT transcription complex subunit 1 in Holoprosencephaly 12 With or Without Pancreatic Agenesis	1
CNPY3	canopy FGF signaling regulator 3 in Genetic Developmental and Epileptic Encephalopathy	1	function
CNTN4	contactin 4 in 3p- Syndrome	1
CNTN6	contactin 6 in 3p- Syndrome	1
COA3	cytochrome c oxidase assembly factor 3 in COA3-Related COX Deficiency	1	function
COA5	cytochrome c oxidase assembly factor 5 in COA5-Related Fatal Infantile Cardioencephalomyopathy	1	function
COA6	cytochrome c oxidase assembly factor 6 in COA6-Related Fatal Infantile Cardioencephalomyopathy	1	function
COA8	cytochrome c oxidase assembly factor 8 in COA8-Related COX Deficiency	1
COASY	Coenzyme A synthase in Pontocerebellar Hypoplasia	1	function
COCH	cochlin in Autosomal Dominant Nonsyndromic Hearing Loss 9	1
COG1	component of oligomeric golgi complex 1 in COG1-congenital disorder of glycosylation	1
COG3	in COG3-Congenital Disorder of Glycosylation	1
COG7	component of oligomeric golgi complex 7 in COG7-congenital disorder of glycosylation	1
COG8	component of oligomeric golgi complex 8 in COG8-congenital disorder of glycosylation	1
COL13A1	collagen type XIII alpha 1 chain in Congenital Myasthenic Syndrome	1
COL14A1	collagen type XIV alpha 1 chain in Punctate Palmoplantar Keratoderma	1
COL25A1	collagen type XXV alpha 1 chain in Congenital Fibrosis of the Extraocular Muscles	1
COL27A1	collagen type XXVII alpha 1 chain in Steel Syndrome	1
COL4A2	in Brain Small Vessel Disease 2 (COL4A2)	1
COL4A4	collagen type IV alpha 4 chain in Alport Syndrome	1
COL4A5	collagen type IV alpha 5 chain in Alport Syndrome	1
COL5A2	collagen type V alpha 2 chain in Ehlers-Danlos Syndrome	1
COL8A2	collagen type VIII alpha 2 chain in Fuchs Endothelial Corneal Dystrophy	1
COLEC10	collectin subfamily member 10 in 3MC Syndrome	1
COLEC11	collectin subfamily member 11 in 3MC Syndrome	1
COLQ	collagen like tail subunit of asymmetric acetylcholinesterase in Congenital Myasthenic Syndrome	1
COMMD4	COMM domain containing 4 in Ritscher-Schinzel Syndrome	1
COMMD9	COMM domain containing 9 in Ritscher-Schinzel Syndrome	1
COMP	cartilage oligomeric matrix protein in Multiple Epiphyseal Dysplasia	1	function
COPA	coat protein complex I subunit alpha in COPA Syndrome	1
COPB2	coat protein complex I subunit beta 2 in Autosomal Recessive Primary Microcephaly	1
COPG1	coat protein complex I subunit gamma 1 in Immunodeficiency 128	1	function
COQ5	coenzyme Q5, methyltransferase	1	summary: verified function
COQ7	coenzyme Q7, hydroxylase	1	summary: verified function
COQ9	coenzyme Q9	1	summary: verified function
CORIN	corin, serine peptidase in Hypertrophic Cardiomyopathy 30, Atrial	1
COX10	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 in COX10-Related COX Deficiency	1	function
COX11	cytochrome c oxidase copper chaperone COX11 in COX11-Related COX Deficiency	1	function
COX14	cytochrome c oxidase assembly factor COX14 in COX14-Related COX Deficiency	1	function
COX15	cytochrome c oxidase assembly factor COX15 in COX15-Related COX Deficiency	1	function
COX16	cytochrome c oxidase assembly factor COX16 in COX16-Related COX Deficiency	1	function
COX20	cytochrome c oxidase assembly factor COX20	1	summary: verified function
COX4I1	cytochrome c oxidase subunit 4I1 in COX4I1-Related COX Deficiency	1	function
COX5A	cytochrome c oxidase subunit 5A in COX5A-Related COX Deficiency	1	function
COX6A2	cytochrome c oxidase subunit 6A2 in COX6A2-Related COX Deficiency	1	function
COX6B1	cytochrome c oxidase subunit 6B1 in COX6B1-Related COX Deficiency	1	function
COX7B	cytochrome c oxidase subunit 7B in Histiocytoid Cardiomyopathy	1	function
COX8A	cytochrome c oxidase subunit 8A in COX8A-Related COX Deficiency	1	function
COXFA4	cytochrome c oxidase associated subunit FA4 in COXFA4-Related COX Deficiency	1	function
CPN1	carboxypeptidase N subunit 1 in Carboxypeptidase N Deficiency	1
CPT1C	carnitine palmitoyltransferase 1C in CPT1C-Related Hereditary Spastic Paraplegia	1	function
CPT2	carnitine palmitoyltransferase 2 in Carnitine Palmitoyltransferase II Deficiency	1	function
CR2	complement C3d receptor 2 in Common Variable Immunodeficiency	1
CRADD	CARD and death domain containing adaptor protein in CRADD-Related Thin Lissencephaly	1
CRB1	crumbs cell polarity complex component 1 in CRB1 Retinal Dystrophies	1
CREB3L1	cAMP responsive element binding protein 3 like 1 in Osteogenesis Imperfecta Type XVI	1
CRELD1	CRELD disulfide isomerase 1 in Atrioventricular Septal Defect	1
CRHR1	corticotropin releasing hormone receptor 1 in Generalized Anxiety Disorder	1
CRIPT	CXXC repeat containing interactor of PDZ3 domain in Rothmund-Thomson Syndrome	1
CRLF3	cytokine receptor like factor 3 in NF1 Microdeletion Syndrome	1
CRPPA	CDP-L-ribitol pyrophosphorylase A in Dystroglycanopathy	1
CRTAP	cartilage associated protein in Osteogenesis Imperfecta Type VII	1	function
CRTC1	CREB regulated transcription coactivator 1 in Mucoepidermoid Carcinoma	1
CRTC3	CREB regulated transcription coactivator 3 in Mucoepidermoid Carcinoma	1
CRX	cone-rod homeobox in CRX-Related Retinopathy	1
CRY1	cryptochrome circadian regulator 1 in Delayed Sleep Phase Syndrome	1	function
CRY2	cryptochrome circadian regulator 2 in Advanced Sleep Phase Syndrome	1	function
CSF1	colony stimulating factor 1 in Ectopic Pregnancy	1
CSNK1D	casein kinase 1 delta in Advanced Sleep Phase Syndrome	1	function
CSNK1E	in Hepatocellular Carcinoma	1
CSNK2A1	casein kinase 2 alpha 1 in Okur-Chung Neurodevelopmental Syndrome	1
CSNK2B	casein kinase 2 beta in Jeavons Syndrome	1	function
CSPP1	centrosome and spindle pole associated protein 1 in Joubert syndrome	1
CST6	cystatin E/M in Keratosis follicularis spinulosa decalvans	1
CSTA	cystatin A in Peeling Skin Syndrome	1
CTAG1B	cancer/testis antigen 1B in Meningioma	1
CTBP1	C-terminal binding protein 1 in Wolf-Hirschhorn_Syndrome	1	function
CTC1	CST telomere replication complex component 1 in Dyskeratosis Congenita	1
CTF1	cardiotrophin 1 in Dilated Cardiomyopathy	1
CTH	cystathionine gamma-lyase in Inborn Disorder of Methionine Cycle and Sulfur Amino Acid Metabolism	1	function
CTNNA1	catenin alpha 1 in Gastric Adenocarcinoma	1
CTNNA2	catenin alpha 2 in Lissencephaly Spectrum Disorders	1
CTNNBL1	catenin beta like 1 in Common Variable Immunodeficiency	1
CTNND1	catenin delta 1 in Obsessive-Compulsive Disorder	1
CTNS	cystinosin, lysosomal cystine transporter	1	summary: verified
CTPS1	CTP synthase 1 in Combined Immunodeficiency Due to CTPS1 Deficiency	1
CTRC	chymotrypsin C in Chronic Pancreatitis	1
CTSA	cathepsin A in Galactosialidosis	1
CTSB	cathepsin B in Ebola Virus Disease (EVD)	1
CTSC	cathepsin C in Papillon-Lefevre Disease	1
CTSF	cathepsin F in Adult Neuronal Ceroid Lipofuscinosis	1
CTSK	cathepsin K in Pycnodysostosis	1
CTSL	cathepsin L in Ebola Virus Disease (EVD)	1
CTSS	cathepsin S in Vitiligo	1
CTU2	in Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome	1
CUBN	cubilin in Imerslund-Grasbeck Syndrome Type 1	1	function
CUL7	cullin 7 in 3-M Syndrome	1
CUX2	cut like homeobox 2 in Genetic Developmental and Epileptic Encephalopathy	1
CX3CR1	C-X3-C motif chemokine receptor 1 in Age-Related Macular Degeneration	1
CXCL10	C-X-C motif chemokine ligand 10 in Multisystem Inflammatory Syndrome in Children (MIS-C)	1
CXCL8	C-X-C motif chemokine ligand 8 in Monkeypox	1
CXCR5	C-X-C motif chemokine receptor 5 in Primary Biliary Cholangitis	1
CYB561	cytochrome b561 in CYB561-Related Orthostatic Hypotension	1
CYB5R3	cytochrome b5 reductase 3 in Hereditary methemoglobinemia	1
CYBA	cytochrome b-245 alpha chain in Chronic Granulomatous Disease	1
CYBC1	cytochrome b-245 chaperone 1 in Chronic Granulomatous Disease	1
CYCS	cytochrome c, somatic in CYCS-Related Thrombocytopenia	1	function
CYFIP1	cytoplasmic FMR1 interacting protein 1 in Prader-Willi Syndrome	1
CYFIP2	cytoplasmic FMR1 interacting protein 2 in CYFIP2-Related Developmental and Epileptic Encephalopathy	1
CYLD	in CYLD Cutaneous Syndrome	1
CYP24A1	cytochrome P450 family 24 subfamily A member 1 in Infantile Hypercalcemia	1
CYP26B1	cytochrome P450 family 26 subfamily B member 1 in Humeroradial Synostosis	1
CYP27B1	cytochrome P450 family 27 subfamily B member 1	1	summary: verified
CYP2C19	cytochrome P450 family 2 subfamily C member 19 in Acute Tricyclic Antidepressant Poisoning	1
CYP2D6	cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene) in Acute Tricyclic Antidepressant Poisoning	1
CYP2R1	cytochrome P450 family 2 subfamily R member 1	1	summary: verified
CYP39A1	cytochrome P450 family 39 subfamily A member 1 in Exfoliation Syndrome	1	function
CYP3A4	cytochrome P450 family 3 subfamily A member 4 in Vitamin D-Dependent Rickets Type 3	1
CYP4V2	cytochrome P450 family 4 subfamily V member 2 in Bietti Crystalline Dystrophy	1
CYP7A1	cytochrome P450 family 7 subfamily A member 1 in Primary Bile Acid Malabsorption	1	function
CYP8B1	cytochrome P450 family 8 subfamily B member 1 in Intrahepatic Cholestasis of Pregnancy	1	function
CYS1	cystin 1 in Polycystic Kidney Disease	1
D2HGDH	D-2-hydroxyglutarate dehydrogenase in D-2-Hydroxyglutaric Aciduria	1
DAP3	death associated protein 3 in Perrault Syndrome	1
DARS1	in Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity	1
DARS2	aspartyl-tRNA synthetase 2, mitochondrial in Charcot-Marie-Tooth Disease Type 2	1	function
DBNL	drebrin like in Rosacea	1
DBR1	debranching RNA lariats 1 in Trichothiodystrophy	1
DBT	dihydrolipoamide branched chain transacylase E2 in Maple Syrup Urine Disease	1	function
DCAF17	DDB1 and CUL4 associated factor 17 in Woodhouse-Sakati Syndrome	1
DCAF8	DDB1 and CUL4 associated factor 8 in Charcot-Marie-Tooth Disease Type 2	1
DCLRE1B	DNA cross-link repair 1B in Dyskeratosis Congenita	1
DCLRE1C	DNA cross-link repair 1C in Severe Combined Immunodeficiency	1
DCN	decorin in Stromal Corneal Dystrophy	1	function
DCT	dopachrome tautomerase in Oculocutaneous Albinism	1
DCX	doublecortin in Lissencephaly Spectrum Disorders	1	function
DDB2	damage specific DNA binding protein 2 in Xeroderma Pigmentosum	1	function
DDHD1	DDHD domain containing 1 in Hereditary Spastic Paraplegia	1
DDHD2	DDHD domain containing 2 in Complex Hereditary Spastic Paraplegia	1
DDIT3	DNA damage inducible transcript 3 in Liposarcoma	1
DDX11	DEAD/H-box helicase 11 in Warsaw breakage syndrome	1
DDX41	in DDX41-related Hematologic Malignancy Predisposition Syndrome	1
DDX59	DEAD-box helicase 59 in Orofaciodigital Syndrome	1
DEF6	DEF6 guanine nucleotide exchange factor in DEF6 Deficiency	1
DENND1A	DENN domain containing 1A in Polycystic Ovary Syndrome	1
DENND5A	DENN domain containing 5A in DENND5A-Related Developmental and Epileptic Encephalopathy	1
DGAT1	diacylglycerol O-acyltransferase 1 in DGAT1 Deficiency	1	function
DGAT2	diacylglycerol O-acyltransferase 2 in Charcot-Marie-Tooth Disease Type 2	1	function
DHCR7	7-dehydrocholesterol reductase in Smith-Lemli-Opitz syndrome	1	function
DHDDS	dehydrodolichyl diphosphate synthase subunit in Retinitis Pigmentosa 59	1	function
DHPS	deoxyhypusine synthase in Deoxyhypusine Synthase Deficiency	1
DHRSX	dehydrogenase/reductase X-linked in DHRSX-Congenital Disorder of Glycosylation	1
DHTKD1	dehydrogenase E1 and transketolase domain containing 1 in Charcot-Marie-Tooth Disease Type 2	1	function
DHX16	DEAH-box helicase 16 in Neuromuscular Disease And Ocular Or Auditory Anomalies With Or Without Seizures	1
DHX30	DExH-box helicase 30 in Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language	1
DHX9	DExH-box helicase 9 in Ewing Sarcoma	1
DIAPH3	diaphanous related formin 3 in Auditory Neuropathy	1
DIO2	iodothyronine deiodinase 2 in Kashin-Beck Disease	1
DISC1	DISC1 scaffold protein in Schizophrenia	1
DKK1	dickkopf Wnt signaling pathway inhibitor 1 in Androgenetic Alopecia	1
DLAT	dihydrolipoamide S-acetyltransferase in Pyruvate Dehydrogenase Deficiency	1	function
DLG3	discs large MAGUK scaffold protein 3 in Non-Syndromic X-Linked Intellectual Disability	1
DLGAP3	DLG associated protein 3 in Obsessive-Compulsive Disorder	1
DLK1	delta like non-canonical Notch ligand 1 in Central Precocious Puberty	1
DLL4	delta like canonical Notch ligand 4 in Adams-Oliver Syndrome	1
DLX1	distal-less homeobox 1 in Split Hand-Foot Malformation	1	function
DLX2	distal-less homeobox 2 in Split Hand-Foot Malformation	1
DMGDH	dimethylglycine dehydrogenase in Dimethylglycine Dehydrogenase Deficiency	1
DMPK	DM1 protein kinase in Myotonic Dystrophy Type 1	1
DMXL2	Dmx like 2 in Developmental and Epileptic Encephalopathy 81	1
DNAAF1	in Primary_Ciliary_Dyskinesia	1
DNAAF11	in Primary_Ciliary_Dyskinesia	1
DNAAF2	in Primary_Ciliary_Dyskinesia	1
DNAAF3	in Primary_Ciliary_Dyskinesia	1
DNAAF5	in Primary_Ciliary_Dyskinesia	1
DNAAF6	in Primary_Ciliary_Dyskinesia	1
DNAH12	in Spermatogenic Failure 100	1
DNAH17	in Spermatogenic Failure 39	1
DNAH2	in Spermatogenic Failure 45	1
DNAH8	in Spermatogenic Failure 46	1
DNAI1	dynein axonemal intermediate chain 1 in Primary_Ciliary_Dyskinesia	1
DNAI2	dynein axonemal intermediate chain 2 in Primary Ciliary Dyskinesia 9	1
DNAJB1	DnaJ heat shock protein family (Hsp40) member B1 in Fibrolamellar Hepatocellular Carcinoma	1	function
DNAJB2	in Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5	1
DNAJB4	in Congenital Myopathy 21 With Early Respiratory Failure	1
DNAJC12	DnaJ heat shock protein family (Hsp40) member C12 in Disorder of Catecholamine Synthesis	1	function
DNAJC21	DnaJ heat shock protein family (Hsp40) member C21 in Shwachman-Diamond syndrome	1	function
DNAJC5	DnaJ heat shock protein family (Hsp40) member C5 in Adult Neuronal Ceroid Lipofuscinosis	1	function
DNAJC6	DnaJ heat shock protein family (Hsp40) member C6 in Parkinson's Disease	1	function
DNAJC7	DnaJ heat shock protein family (Hsp40) member C7 in Amyotrophic Lateral Sclerosis	1	function
DNAL4	dynein axonemal light chain 4 in Familial Congenital Mirror Movements	1
DNASE1	deoxyribonuclease 1 in Systemic Lupus Erythematosus	1
DNASE2	in DNASE2 Deficiency	1
DNM1	dynamin 1 in DNM1 Encephalopathy	1
DNMBP	in Cataract 48	1
DOCK2	dedicator of cytokinesis 2 in DOCK2 Deficiency	1
DOCK6	dedicator of cytokinesis 6 in Adams-Oliver Syndrome	1
DOCK7	dedicator of cytokinesis 7 in Genetic Developmental and Epileptic Encephalopathy	1
DOK7	docking protein 7 in Congenital Myasthenic Syndrome	1
DOLK	dolichol kinase in DK1-congenital disorder of glycosylation	1	function
DPF2	double PHD fingers 2 in Coffin-Siris syndrome	1
DPM1	dolichyl-phosphate mannosyltransferase subunit 1, catalytic in Dystroglycanopathy	1	function
DPM3	dolichyl-phosphate mannosyltransferase subunit 3, regulatory in Dystroglycanopathy	1	function
DPP4	dipeptidyl peptidase 4 in Middle East Respiratory Syndrome	1
DPP9	dipeptidyl peptidase 9 in Hatipoglu Immunodeficiency Syndrome	1
DPYS	in Dihydropyrimidinase Deficiency	1
DRC1	in Primary_Ciliary_Dyskinesia	1
DRD1	dopamine receptor D1 in Huntington Disease	1
DSC2	desmocollin 2 in arrhythmogenic right ventricular cardiomyopathy	1
DSE	dermatan sulfate epimerase in Musculocontractural Ehlers-Danlos Syndrome	1
DSG4	desmoglein 4 in Monilethrix	1
DSTYK	dual serine/threonine and tyrosine protein kinase in Complex Hereditary Spastic Paraplegia	1
DTNA	in Left ventricular noncompaction	1
DTX3L	deltex E3 ubiquitin ligase 3L in COVID-19	1
DTYMK	deoxythymidylate kinase in DTYMK-Related Neurodegeneration	1	function
DUOXA1	dual oxidase maturation factor 1 in Thyroid dyshormonogenesis 5	1
DUSP22	dual specificity phosphatase 22 in Anaplastic Large Cell Lymphoma	1
DUSP6	dual specificity phosphatase 6 in Kallmann Syndrome	1
DUX4	double homeobox 4 in Facioscapulohumeral Muscular Dystrophy	1
DVL1	dishevelled segment polarity protein 1 in Autosomal Dominant Robinow Syndrome 2	1
DVL3	dishevelled segment polarity protein 3 in Autosomal Dominant Robinow Syndrome 3	1
DYNC1H1	dynein cytoplasmic 1 heavy chain 1 in Lissencephaly Spectrum Disorders	1	function
DYNC1I1	dynein cytoplasmic 1 intermediate chain 1 in Split Hand-Foot Malformation	1
DYNC2H1	dynein cytoplasmic 2 heavy chain 1 in Short-Rib Thoracic Dysplasia 6 With or Without Polydactyly	1
DYNC2I2	dynein 2 intermediate chain 2 in Jeune Asphyxiating Thoracic Dystrophy	1
DYSF	dysferlin in Autosomal Recessive Limb-Girdle Muscular Dystrophy	1
DZIP1L	DAZ interacting zinc finger protein 1 like in Polycystic Kidney Disease	1
EBF1	EBF transcription factor 1 in Mixed Phenotype Acute Leukemia	1
ECEL1	endothelin converting enzyme like 1 in Camptodactyly	1
ECHS1	enoyl-CoA hydratase, short chain 1 in ECHS1 Deficiency	1	function
ECM1	extracellular matrix protein 1 in Lipoid Proteinosis	1
EDA2R	ectodysplasin A2 receptor in Androgenetic Alopecia	1
EDAR	ectodysplasin A receptor in EDAR-Related Hypohidrotic Ectodermal Dysplasia	1
EDARADD	EDAR associated via death domain in EDARADD-Related Hypohidrotic Ectodermal Dysplasia	1
EDC3	enhancer of mRNA decapping 3 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
EDEM3	ER degradation enhancing alpha-mannosidase like protein 3 in EDEM3-Congenital Disorder of Glycosylation	1	function
EDN1	endothelin 1 in Auriculocondylar Syndrome	1
EDN3	endothelin 3 in EDN3/EDNRB Waardenburg-Shah	1
EDNRA	endothelin receptor type A in Mandibulofacial Dysostosis with Alopecia	1
EED	embryonic ectoderm development in Malignant Peripheral Nerve Sheath Tumor	1
EEF2	eukaryotic translation elongation factor 2 in Autosomal Dominant Cerebellar Ataxia Type III	1
EEFSEC	eukaryotic elongation factor, selenocysteine-tRNA specific	1	summary: verified function
EFNA4	ephrin A4 in Saethre-Chotzen Syndrome	1
EFTUD2	elongation factor Tu GTP binding domain containing 2 in Mandibulofacial dysostosis with microcephaly	1
EGF	in Renal Hypomagnesemia 4	1
EGLN1	in EGLN1-related Erythrocytosis and Pheochromocytoma/Paraganglioma Predisposition	1
EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase in Fanconi Renotubular Syndrome	1	function
EHMT1	euchromatic histone lysine methyltransferase 1 in Kleefstra Syndrome	1
EIF2B2	eukaryotic translation initiation factor 2B subunit beta in Leukoencephalopathy With Vanishing White Matter	1
EIF2B3	eukaryotic translation initiation factor 2B subunit gamma in Leukoencephalopathy With Vanishing White Matter	1
EIF2B4	eukaryotic translation initiation factor 2B subunit delta in Leukoencephalopathy With Vanishing White Matter	1	function
EIF2B5	eukaryotic translation initiation factor 2B subunit epsilon in Leukoencephalopathy With Vanishing White Matter	1
EIF2S3	in MEHMO Syndrome	1
EIF3F	eukaryotic translation initiation factor 3 subunit F in Intellectual Developmental Disorder Autosomal Recessive 67	1
EIF4A2	eukaryotic translation initiation factor 4A2 in Neurodevelopmental Disorder with Hypotonia and Speech Delay, With or Without Seizures	1
EIF6	eukaryotic translation initiation factor 6 in Shwachman-Diamond syndrome	1
ELMOD3	ELMO domain containing 3 in Autosomal Recessive Nonsyndromic Hearing Loss 88	1
ELOVL1	ELOVL fatty acid elongase 1 in Ichthyotic_Keratoderma_Spasticity_Hypomyelination_And_Dysmorphic_Facial_Features	1	function
ELOVL5	ELOVL fatty acid elongase 5 in Autosomal Dominant Cerebellar Ataxia Type III	1	function
ELP2	elongator acetyltransferase complex subunit 2 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
EMILIN1	elastin microfibril interfacer 1 in Distal Hereditary Motor Neuronopathy, Autosomal Dominant	1
EML1	EMAP like 1 in EML1-related Ribbon-like Subcortical Heterotopia	1
EML4	EMAP like 4 in ALK-Rearranged Non-Small Cell Lung Cancer	1
EMSY	EMSY transcriptional repressor, BRCA2 interacting in Atopic Dermatitis	1
ENAM	enamelin in Amelogenesis Imperfecta	1
ENO3	enolase 3 in Glycogen Storage Disease Due to Muscle Beta-Enolase Deficiency	1	function
ENPP1	ectonucleotide pyrophosphatase/phosphodiesterase 1 in Arterial Calcification of Infancy	1
ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1 in Complex Hereditary Spastic Paraplegia	1
EOGT	EGF domain specific O-linked N-acetylglucosamine transferase in Adams-Oliver Syndrome	1
EPB41	erythrocyte membrane protein band 4.1 in Hereditary Elliptocytosis	1
EPB41L1	erythrocyte membrane protein band 4.1 like 1 in Intellectual Disability, Autosomal Dominant 11	1
EPB42	erythrocyte membrane protein band 4.2 in Hereditary Spherocytosis	1
EPG5	ectopic P-granules 5 autophagy tethering factor in Vici Syndrome	1
EPHB2	EPH receptor B2 in Platelet-type Bleeding Disorder 22	1
EPO	erythropoietin in Chuvash Polycythemia	1
EPRS1	glutamyl-prolyl-tRNA synthetase 1 in Hypomyelinating Leukodystrophy 15	1
EPS8	EGFR pathway substrate 8, signaling adaptor in Autosomal Recessive Nonsyndromic Hearing Loss 102	1
EPS8L2	EPS8 signaling adaptor L2 in Hearing Loss Autosomal Recessive 106	1
ERAL1	Era like 12S mitochondrial rRNA chaperone 1 in Perrault Syndrome	1
ERBB4	erb-b2 receptor tyrosine kinase 4 in Amyotrophic Lateral Sclerosis	1
ERCC1	ERCC excision repair 1, endonuclease non-catalytic subunit in COFS Syndrome	1
ERCC6L2	ERCC excision repair 6 like 2 in Pancytopenia-Developmental Delay Syndrome	1
ERI1	exoribonuclease 1 in Spondyloepimetaphyseal Dysplasia Guo-Campeau Type	1
ESRP1	epithelial splicing regulatory protein 1 in Alveolar capillary dysplasia with misalignment of pulmonary veins	1
ESRRB	estrogen related receptor beta in Autosomal Recessive Nonsyndromic Hearing Loss 35	1
ETFA	electron transfer flavoprotein subunit alpha in Multiple Acyl-CoA Dehydrogenase Deficiency	1	function
ETFB	electron transfer flavoprotein subunit beta in Multiple Acyl-CoA Dehydrogenase Deficiency	1	function
ETFDH	electron transfer flavoprotein dehydrogenase in Multiple Acyl-CoA Dehydrogenase Deficiency	1	function
ETHE1	ETHE1 persulfide dioxygenase in Ethylmalonic Encephalopathy	1
EXOC1L	exocyst complex component 1 like in Fatal Familial Insomnia	1
EXOC6B	in Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 3	1
EXOSC3	exosome component 3 in Pontocerebellar Hypoplasia	1
EXOSC5	in cerebellar ataxia, brain abnormalities, and cardiac conduction defects	1
EXOSC8	exosome component 8 in Pontocerebellar Hypoplasia	1
EXOSC9	exosome component 9 in Pontocerebellar Hypoplasia	1
EXPH5	exophilin 5 in Epidermolysis Bullosa Simplex	1
EXTL3	exostosin like glycosyltransferase 3 in Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities	1
EYA4	EYA transcriptional coactivator and phosphatase 4 in Dilated Cardiomyopathy 1J	1
EYS	EGF-like photoreceptor maintenance factor in EYS-Related Retinitis Pigmentosa	1
EZHIP	EZH inhibitory protein in Diffuse Midline Glioma, H3 K27-Altered	1
F12	coagulation factor XII in Hereditary Angioedema	1
F13A1	coagulation factor XIII A chain in Factor XIII A Subunit Deficiency	1
F13B	in Factor XIII B Subunit Deficiency	1
F3	coagulation factor III, tissue factor in Heparin-Induced Thrombocytopenia	1
F7	coagulation factor VII in Chlorophacinone Poisoning	1
FA2H	fatty acid 2-hydroxylase in Complex Hereditary Spastic Paraplegia	1
FADD	Fas associated via death domain in FADD-Related Immunodeficiency	1
FAH	fumarylacetoacetate hydrolase in Tyrosinemia Type I	1	function
FAM111A	FAM111 trypsin like peptidase A in FAM111A-Related Skeletal Dysplasia	1
FAM126A	in Hypomyelinating Leukodystrophy 5	1
FAM149B1	family with sequence similarity 149 member B1 in Joubert syndrome	1
FAM20A	FAM20A golgi associated secretory pathway pseudokinase in Amelogenesis Imperfecta	1
FAM20C	FAM20C golgi associated secretory pathway kinase in Raine Syndrome	1
FANCB	FA complementation group B in Fanconi_Anemia	1	function
FANCE	FA complementation group E in Fanconi_Anemia	1	function
FANCF	FA complementation group F in Fanconi_Anemia	1	function
FANCG	FA complementation group G in Fanconi_Anemia	1	function
FANCI	FA complementation group I in Fanconi_Anemia	1	function
FANCL	FA complementation group L in Fanconi_Anemia	1	function
FAP	fibroblast activation protein alpha in Pancreatic Ductal Adenocarcinoma	1
FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial in Hereditary Spastic Paraplegia 77	1
FARSB	phenylalanyl-tRNA synthetase subunit beta in Rajab Interstitial Lung Disease With Brain Calcifications 1	1
FASTKD5	FASTK mitochondrial RNA regulator 5 in FASTKD5-Related COX Deficiency	1
FAT2	FAT atypical cadherin 2 in Autosomal Dominant Cerebellar Ataxia Type III	1
FBLIM1	filamin binding LIM protein 1 in Chronic Recurrent Multifocal Osteomyelitis	1
FBLN1	fibulin 1 in ACAN-Related Short Stature Spectrum	1
FBN2	fibrillin 2 in Camptodactyly	1
FBP1	fructose-bisphosphatase 1	1	summary: verified
FBXL4	F-box and leucine rich repeat protein 4	1	summary: verified
FBXO28	F-box protein 28 in Genetic Developmental and Epileptic Encephalopathy	1
FBXO31	F-box protein 31 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
FBXO32	F-box protein 32 in Dilated Cardiomyopathy	1
FBXO38	F-box protein 38 in Distal Hereditary Motor Neuronopathy, Autosomal Dominant	1
FBXO7	F-box protein 7 in Parkinson's Disease	1	function
FBXW4	F-box and WD repeat domain containing 4 in Split Hand-Foot Malformation	1	function
FBXW7	F-box and WD repeat domain containing 7 in MED13L Syndrome	1	function
FCAR	Fc alpha receptor in Dermatitis Herpetiformis	1
FCGRT	Fc gamma receptor and transporter in Hemolytic Disease of the Fetus and Newborn	1
FCHO1	FCH and mu domain containing endocytic adaptor 1 in Immunodeficiency 76	1
FCHO2	FCH and mu domain containing endocytic adaptor 2 in Immunodeficiency 76	1
FCN3	ficolin 3 in Ficolin 3 Deficiency	1
FDPS	farnesyl diphosphate synthase in Porokeratosis	1	function
FDX1	ferredoxin 1 in Renal Cell Carcinoma	1
FDX2	in FDX2-Related Mitochondrial Myopathy	1
FDXR	ferredoxin reductase in Multiple Mitochondrial Dysfunctions Syndrome 9B	1
FERRY3	FERRY endosomal RAB5 effector complex subunit 3 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
FES	FES proto-oncogene, tyrosine kinase in Aortic Valve Stenosis	1
FEZF1	FEZ family zinc finger 1 in Kallmann Syndrome	1
FGB	fibrinogen beta chain in Congenital Hypofibrinogenemia	1
FGD4	FYVE, RhoGEF and PH domain containing 4 in Charcot-Marie-Tooth Disease Type 4	1
FGF10	in Aplasia of Lacrimal and Salivary Glands	1
FGF12	fibroblast growth factor 12 in FGF12-Related Developmental and Epileptic Encephalopathy	1
FGF17	fibroblast growth factor 17 in Kallmann Syndrome	1
FGF19	fibroblast growth factor 19 in Primary Bile Acid Malabsorption	1
FGF20	fibroblast growth factor 20 in Renal Agenesis	1
FGF5	fibroblast growth factor 5 in Androgenetic Alopecia	1
FGF8	fibroblast growth factor 8 in Kallmann Syndrome	1	function
FGFR4	fibroblast growth factor receptor 4 in Embryonal Rhabdomyosarcoma	1
FIBP	FGF1 intracellular binding protein in Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	1
FITM2	fat storage inducing transmembrane protein 2 in Siddiqi Syndrome	1
FKBP10	FKBP prolyl isomerase 10 in Osteogenesis Imperfecta Type XI	1
FKBP14	FKBP prolyl isomerase 14 in Kyphoscoliotic Ehlers-Danlos Syndrome	1
FKBP5	FKBP prolyl isomerase 5 in Major Depressive Disorder	1	function
FLAD1	flavin adenine dinucleotide synthetase 1 in Multiple Acyl-CoA Dehydrogenase Deficiency	1	function
FLG2	filaggrin 2 in Peeling Skin Syndrome	1
FLRT3	fibronectin leucine rich transmembrane protein 3 in Kallmann Syndrome	1
FLT1	fms related receptor tyrosine kinase 1 in Preeclampsia	1
FLVCR1	FLVCR choline and heme transporter 1 in FLVCR1-Related Retinopathy with or without Ataxia	1
FLVCR2	FLVCR choline and putative heme transporter 2 in Fowler Syndrome	1
FMN2	formin 2 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
FMO3	flavin containing dimethylaniline monoxygenase 3 in Trimethylaminuria	1
FNDC3B	fibronectin type III domain containing 3B in Keratoconus	1
FOS	Fos proto-oncogene, AP-1 transcription factor subunit in Benign Prostatic Hyperplasia	1
FOXG1	forkhead box G1 in FOXG1 Disorder	1
FOXI3	forkhead box I3 in Craniofacial Microsomia	1
FOXL1	forkhead box L1 in Otosclerosis	1
FOXN1	forkhead box N1 in T-cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy	1
FOXO1	forkhead box O1 in Alveolar Rhabdomyosarcoma	1	function
FOXP1	forkhead box P1 in FOXP1 Syndrome	1
FOXP2	forkhead box P2 in Dyslexia	1
FOXR2	forkhead box R2 in Pineoblastoma	1
FOXRED1	FAD dependent oxidoreductase domain containing 1	1	summary: verified function
FPR1	formyl peptide receptor 1 in Stevens-Johnson Syndrome	1
FRAS1	Fraser extracellular matrix complex subunit 1 in Fraser Syndrome	1
FREM2	FRAS1 related extracellular matrix 2 in Fraser Syndrome	1
FRG1	FSHD region gene 1 in Facioscapulohumeral Muscular Dystrophy	1
FRMPD4	FERM and PDZ domain containing 4 in Non-Syndromic X-Linked Intellectual Disability	1
FRRS1L	ferric chelate reductase 1 like in Genetic Developmental and Epileptic Encephalopathy	1
FTH1	ferritin heavy chain 1 in Hemochromatosis	1	function
FTSJ1	FtsJ RNA 2'-O-methyltransferase 1 in Non-Syndromic X-Linked Intellectual Disability	1
FUBP1	far upstream element binding protein 1 in IDH-Mutant and 1p/19q-Codeleted Oligodendroglioma	1
FURIN	furin, paired basic amino acid cleaving enzyme in Opioid Use Disorder	1
FUZ	fuzzy planar cell polarity protein in Orofaciodigital Syndrome	1
FXN	frataxin in Friedreich Ataxia	1	function
FYB1	in Thrombocytopenia 3	1
FZD2	frizzled class receptor 2 in Omodysplasia	1
FZD4	frizzled class receptor 4 in Familial Exudative Vitreoretinopathy	1
FZD5	frizzled class receptor 5 in Microphthalmia with Coloboma	1
FZR1	fizzy and cell division cycle 20 related 1 in Genetic Developmental and Epileptic Encephalopathy	1	function
G6PC1	glucose-6-phosphatase catalytic subunit 1	1	summary: verified function
G6PC3	glucose-6-phosphatase catalytic subunit 3 in G6PC3 Deficiency	1	function
GAB1	GRB2 associated binding protein 1 in Autosomal Recessive Nonsyndromic Hearing Loss 26	1
GABBR2	gamma-aminobutyric acid type B receptor subunit 2 in Genetic Developmental and Epileptic Encephalopathy	1
GABRB2	gamma-aminobutyric acid type A receptor subunit beta2 in Genetic Developmental and Epileptic Encephalopathy	1
GALC	galactosylceramidase in Krabbe Disease	1	function
GALE	UDP-galactose-4-epimerase in Galactosemia	1	function
GALK1	galactokinase 1 in Galactosemia	1	function
GALNT2	polypeptide N-acetylgalactosaminyltransferase 2 in GALNT2-Congenital Disorder of Glycosylation	1
GALNT3	polypeptide N-acetylgalactosaminyltransferase 3	1	summary: verified
GALT	galactose-1-phosphate uridylyltransferase in Galactosemia	1	function
GAMT	guanidinoacetate N-methyltransferase in Guanidinoacetate Methyltransferase Deficiency	1	function
GAN	gigaxonin in Giant Axonal Neuropathy 1	1
GAS1	growth arrest specific 1 in SHH Holoprosencephaly Spectrum	1
GAS2L2	growth arrest specific 2 like 2 in Primary_Ciliary_Dyskinesia	1
GATAD2B	GATA zinc finger domain containing 2B in Autosomal Dominant Non-Syndromic Intellectual Disability	1
GATC	glutamyl-tRNA amidotransferase subunit C in Combined oxidative phosphorylation deficiency 42	1
GBP1	guanylate binding protein 1 in Ewing Sarcoma	1
GBP4	guanylate binding protein 4 in Tuberculosis	1
GBX2	gastrulation brain homeobox 2 in Craniofacial Microsomia	1	function
GCA	grancalcin in Leptospirosis	1
GCDH	glutaryl-CoA dehydrogenase in Glutaryl-CoA Dehydrogenase Deficiency	1	function
GCLC	glutamate-cysteine ligase catalytic subunit in Gamma-Glutamylcysteine Synthetase Deficiency	1	function
GCLM	glutamate-cysteine ligase modifier subunit in Gamma-Glutamylcysteine Synthetase Deficiency	1	function
GCM2	GCM transcription factor 2 in Parathyroid Hyperplasia	1
GCNT2	glucosaminyl (N-acetyl) transferase 2 (I blood group) in Cataract 13 With Adult I Phenotype	1
GCSH	glycine cleavage system protein H in Nonketotic Hyperglycinemia	1	function
GDI1	GDP dissociation inhibitor 1 in Non-Syndromic X-Linked Intellectual Disability	1
GFAP	glial fibrillary acidic protein in Alexander Disease	1
GFI1B	growth factor independent 1B transcriptional repressor in GFI1B-related platelet-type bleeding disorder	1
GFPT1	glutamine--fructose-6-phosphate transaminase 1 in Congenital Myasthenic Syndrome	1	function
GFRA1	GDNF family receptor alpha 1 in Renal Agenesis	1
GGT1	in Gamma-glutamyl Transpeptidase Deficiency	1
GHR	growth hormone receptor in Growth Hormone Insensitivity Syndrome	1
GHRHR	growth hormone releasing hormone receptor in Isolated Growth Hormone Deficiency	1
GIMAP5	GTPase, IMAP family member 5 in Portal_Hypertension_Noncirrhotic_2	1
GINS1	GINS complex subunit 1 in Combined Immunodeficiency Due To GINS1 Deficiency	1
GINS2	GINS complex subunit 2 in Meier-Gorlin syndrome	1
GINS3	GINS complex subunit 3 in Meier-Gorlin syndrome	1
GIPC1	GIPC PDZ domain containing family member 1 in Oculopharyngodistal Myopathy	1
GIPC3	GIPC PDZ domain containing family member 3 in Autosomal Recessive Nonsyndromic Hearing Loss 15	1
GIPR	gastric inhibitory polypeptide receptor in ACTH-Independent Macronodular Adrenal Hyperplasia 3	1
GJB4	gap junction protein beta 4 in Erythrokeratodermia Variabilis	1
GJC2	gap junction protein gamma 2 in Hereditary Spastic Paraplegia 44	1
GK	glycerol kinase in Isolated Glycerol Kinase Deficiency	1
GLA	galactosidase alpha in Fabry disease	1	function
GLDC	glycine decarboxylase in Nonketotic Hyperglycinemia	1	function
GLDN	gliomedin in Lethal Congenital Contracture Syndrome	1
GLMN	glomulin, FKBP associated protein in Glomus Tumor	1	function
GLRA1	glycine receptor alpha 1 in Hereditary Hyperekplexia	1
GLRX5	glutaredoxin 5 in Sideroblastic Anemia 3	1	function
GLT8D1	glycosyltransferase 8 domain containing 1 in Amyotrophic Lateral Sclerosis	1
GLUL	glutamate-ammonia ligase	1	summary: verified function
GM2A	ganglioside GM2 activator in Tay-Sachs Disease AB Variant	1	function
GMNN	geminin DNA replication inhibitor in Meier-Gorlin syndrome	1
GNA14	G protein subunit alpha 14 in Kasabach-Merritt Syndrome	1
GNAI2	G protein subunit alpha i2 in AIP-related pituitary adenoma predisposition	1
GNAT1	G protein subunit alpha transducin 1 in Congenital Stationary Night Blindness	1
GNAT2	G protein subunit alpha transducin 2 in Achromatopsia	1
GNB3	G protein subunit beta 3 in Congenital Stationary Night Blindness	1
GNB4	G protein subunit beta 4 in Intermediate Charcot-Marie-Tooth Disease	1
GNLY	granulysin in Stevens-Johnson Syndrome	1
GNMT	glycine N-methyltransferase in Inborn Disorder of Methionine Cycle and Sulfur Amino Acid Metabolism	1	function
GNPAT	glyceronephosphate O-acyltransferase	1	summary: verified function
GNPNAT1	glucosamine-phosphate N-acetyltransferase 1 in Rhizomelic Dysplasia, Ain-Naz Type	1	function
GOLGA2	golgin A2 in GOLGA2-Related Golgin A2 Deficiency	1
GON7	GON7 subunit of KEOPS complex in Galloway-Mowat syndrome	1
GOT1	glutamic-oxaloacetic transaminase 1 in Pancreatic Ductal Adenocarcinoma	1	function
GOT2	glutamic-oxaloacetic transaminase 2 in Developmental and Epileptic Encephalopathy 82	1	function
GP1BB	glycoprotein Ib platelet subunit beta in Bernard-Soulier Syndrome	1
GP9	glycoprotein IX platelet in Bernard-Soulier Syndrome	1	function
GPA33	glycoprotein A33 in Eosinophilic granulomatosis with polyangiitis	1
GPAA1	in Glycosylphosphatidylinositol Biosynthesis Defect 15	1
GPC1	glypican 1 in Biliary Atresia	1
GPC3	glypican 3 in Simpson-Golabi-Behmel Syndrome Type 1	1
GPC4	glypican 4 in Keipert syndrome	1	function
GPC6	glypican 6 in Omodysplasia	1	function
GPD1	glycerol-3-phosphate dehydrogenase 1	1	summary: verified function
GPD1L	glycerol-3-phosphate dehydrogenase 1 like in Brugada syndrome	1
GPHN	gephyrin in Hereditary Hyperekplexia	1	function
GPIHBP1	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 in Familial Chylomicronemia Syndrome	1
GPNMB	glycoprotein nmb in Primary Cutaneous Amyloidosis	1
GPR161	in GPR161-related medulloblastoma predisposition	1
GPR179	G protein-coupled receptor 179 in Congenital Stationary Night Blindness	1
GPR68	G protein-coupled receptor 68 in Amelogenesis Imperfecta	1
GPT2	glutamic--pyruvic transaminase 2 in Complex Hereditary Spastic Paraplegia	1
GPX1	glutathione peroxidase 1 in Kashin-Beck Disease	1
GPX3	in Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	1
GPX6	glutathione peroxidase 6 in Kashin-Beck Disease	1
GRB2	growth factor receptor bound protein 2 in HER2-Positive Breast Cancer	1	function
GRB7	growth factor receptor bound protein 7 in HER2-Positive Breast Cancer	1
GREB1	growth regulating estrogen receptor binding 1 in Endometriosis	1
GREM2	gremlin 2, DAN family BMP antagonist in Tooth Agenesis	1
GRHL2	grainyhead like transcription factor 2 in Posterior Polymorphous Corneal Dystrophy	1
GRHL3	grainyhead like transcription factor 3 in Cleft Lip/Palate	1
GRHPR	glyoxylate and hydroxypyruvate reductase	1	summary: verified function
GRIA3	glutamate ionotropic receptor AMPA type subunit 3 in Syndromic X-linked Intellectual Disability 94	1
GRIA4	glutamate ionotropic receptor AMPA type subunit 4 in Fibromyalgia	1
GRID1	glutamate ionotropic receptor delta type subunit 1 in WAPL-Related Developmental Disorder	1	function
GRIK2	glutamate ionotropic receptor kainate type subunit 2 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D in Developmental And Epileptic Encephalopathy 46	1
GRIP1	glutamate receptor interacting protein 1 in Fraser Syndrome	1
GRK1	G protein-coupled receptor kinase 1 in Congenital Stationary Night Blindness	1
GRK2	G protein-coupled receptor kinase 2 in Jeune Asphyxiating Thoracic Dystrophy	1
GRK5	G protein-coupled receptor kinase 5 in Takotsubo Cardiomyopathy	1
GRM1	glutamate metabotropic receptor 1 in Autosomal Dominant Cerebellar Ataxia	1
GRM5	glutamate metabotropic receptor 5 in Pigment Dispersion Syndrome	1
GRM6	glutamate metabotropic receptor 6 in Congenital Stationary Night Blindness	1
GSAP	gamma-secretase activating protein in Pigment Dispersion Syndrome	1
GSDMB	gasdermin B in Asthma	1	function
GSDMD	in Major Depressive Disorder	1
GSK3B	glycogen synthase kinase 3 beta in Alzheimer Disease	1	function
GSN	gelsolin in Finnish Type Amyloidosis	1
GSR	in Glutathione Reductase Deficiency	1
GSS	glutathione synthetase in Glutathione Synthetase Deficiency	1	function
GSTA2	glutathione S-transferase alpha 2 in Primary_Ciliary_Dyskinesia	1
GSTP1	glutathione S-transferase pi 1 in Sulfur Mustard Poisoning	1
GSTZ1	glutathione S-transferase zeta 1 in Maleylacetoacetate Isomerase Deficiency	1	function
GTF2E2	general transcription factor IIE subunit 2 in Trichothiodystrophy	1
GTF2H5	general transcription factor IIH subunit 5 in Trichothiodystrophy	1
GTF2IRD1	GTF2I repeat domain containing 1 in Williams Syndrome	1
GTPBP3	GTP binding protein 3, mitochondrial in Combined Oxidative Phosphorylation Defect Type 23	1
GUCY1A1	guanylate cyclase 1 soluble subunit alpha 1 in Moyamoya Disease	1
GUF1	GTP binding elongation factor GUF1 in Developmental And Epileptic Encephalopathy 40	1
GULP1	GULP PTB domain containing engulfment adaptor 1 in Type 2 Diabetes Mellitus	1
GYPC	glycophorin C (Gerbich blood group) in Hereditary Elliptocytosis	1
GYS1	glycogen synthase 1 in Glycogen Storage Disease Type 0b	1	function
GYS2	glycogen synthase 2 in Glycogen Storage Disease Type 0a	1	function
GZF1	GDNF inducible zinc finger protein 1 in Joint Laxity, Short Stature, and Myopia	1
GZMB	granzyme B in Stevens-Johnson Syndrome	1
GZMK	granzyme K in Rosacea	1
H3-3B	H3.3 histone B in Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	1
H6PD	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase in Cortisone Reductase Deficiency	1
HAAO	3-hydroxyanthranilate 3,4-dioxygenase in Congenital Vertebral-Cardiac-Renal Anomalies Syndrome	1	function
HABP2	hyaluronan binding protein 2 in Familial Nonmedullary Thyroid Carcinoma	1
HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 in Complex Hereditary Spastic Paraplegia	1
HADHB	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta in Mitochondrial Trifunctional Protein Deficiency	1	function
HAND1	heart and neural crest derivatives expressed 1 in Congenital Heart Disease	1
HAND2	heart and neural crest derivatives expressed 2 in Congenital Heart Disease	1
HAO1	hydroxyacid oxidase 1	1	summary: verified function
HARS2	histidyl-tRNA synthetase 2, mitochondrial in Perrault Syndrome	1
HAVCR1	hepatitis A virus cellular receptor 1 in Ebola Virus Disease (EVD)	1
HAVCR2	hepatitis A virus cellular receptor 2 in Subcutaneous Panniculitis-like T-cell Lymphoma	1
HAX1	in 3-Methylglutaconic Aciduria Type VIIB	1
HBG2	hemoglobin subunit gamma 2 in Cyanosis Transient Neonatal	1
HBS1L	HBS1 like translational GTPase in Beta Thalassemia	1	function
HCRT	hypocretin neuropeptide precursor in Narcolepsy	1
HCRTR2	hypocretin receptor 2 in Narcolepsy	1
HDAC1	in Fetal Valproate Syndrome	1
HDAC6	histone deacetylase 6 in X-linked Dominant Chondrodysplasia Chassaing-Lacombe Type	1	function
HDAC9	histone deacetylase 9 in Auriculocondylar Syndrome	1
HDC	histidine decarboxylase in Tourette Syndrome	1
HEATR3	HEAT repeat containing 3 in Diamond-Blackfan Anemia	1
HELLS	helicase, lymphoid specific in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	1
HEPACAM	hepatic and glial cell adhesion molecule in CLCN2-Related Leukoencephalopathy	1
HERC2	HECT and RLD domain containing E3 ubiquitin protein ligase 2 in Rosacea	1
HES7	hes family bHLH transcription factor 7 in Spondylocostal Dysostosis	1
HESX1	HESX homeobox 1 in Combined Pituitary Hormone Deficiencies, Genetic Form	1
HEXA	hexosaminidase subunit alpha in Tay-Sachs Disease	1	function
HEXB	hexosaminidase subunit beta in Sandhoff Disease	1	function
HGD	homogentisate 1,2-dioxygenase in Alkaptonuria	1	function
HHAT	hedgehog acyltransferase in HHAT-related chondrodysplasia with 46,XY disorder of sex development	1
HIBCH	3-hydroxyisobutyryl-CoA hydrolase in 3-hydroxyisobutyryl-CoA hydrolase deficiency	1	function
HID1	HID1 domain containing in Genetic Developmental and Epileptic Encephalopathy	1
HIVEP2	HIVEP zinc finger 2 in Autosomal Dominant Non-Syndromic Intellectual Disability	1
HJV	hemojuvelin BMP co-receptor in Hemochromatosis	1
HLA-C	major histocompatibility complex, class I, C in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome	1
HLA-DRA	major histocompatibility complex, class II, DR alpha in Rosacea	1
HLCS	holocarboxylase synthetase in Holocarboxylase Synthetase Deficiency	1	function
HLF	HLF transcription factor, PAR bZIP family member in B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality	1
HMCN1	hemicentin 1 in Age-Related Macular Degeneration	1
HMGB1	high mobility group box 1 in Brachyphalangy-Polydactyly-Tibial Aplasia Syndrome	1	function
HMGCL	3-hydroxy-3-methylglutaryl-CoA lyase in 3-Hydroxy-3-Methylglutaric Aciduria	1	function
HMGCR	3-hydroxy-3-methylglutaryl-CoA reductase	1	summary: verified function
HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2 in 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency	1	function
HMGN1	high mobility group nucleosome binding domain 1 in Atrioventricular Septal Defect	1
HNMT	histamine N-methyltransferase in Autosomal Recessive Non-Syndromic Intellectual Disability	1
HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1 in Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	1	function
HNRNPC	heterogeneous nuclear ribonucleoprotein C	1	summary: verified
HNRNPDL	heterogeneous nuclear ribonucleoprotein D like in Limb-Girdle Muscular Dystrophy, Autosomal Dominant	1
HNRNPF	in Ulcerative Colitis	1
HNRNPU	heterogeneous nuclear ribonucleoprotein U in HNRNPU-Related Developmental and Epileptic Encephalopathy	1
HOGA1	4-hydroxy-2-oxoglutarate aldolase 1	1	summary: verified function
HOMER2	homer scaffold protein 2 in Autosomal Dominant Nonsyndromic Hearing Loss 68	1
HOXA11	homeobox A11 in Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia	1
HOXB1	homeobox B1 in Hereditary Congenital Facial Paresis 3	1
HOXC13	homeobox C13 in HOXC13-Related Pure Hair-Nail Ectodermal Dysplasia	1
HP1BP3	heterochromatin protein 1 binding protein 3 in Postpartum Depression	1
HPD	4-hydroxyphenylpyruvate dioxygenase in Tyrosinemia Type III	1	function
HPDL	4-hydroxyphenylpyruvate dioxygenase like in Hereditary Spastic Paraplegia	1
HPGD	15-hydroxyprostaglandin dehydrogenase in Primary Hypertrophic Osteoarthropathy	1
HPS1	HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 in Hermansky-Pudlak Syndrome	1
HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 in Hermansky-Pudlak Syndrome	1
HPS4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 in Hermansky-Pudlak Syndrome	1
HPS5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 in Hermansky-Pudlak Syndrome	1
HPS6	HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 in Hermansky-Pudlak Syndrome	1
HPSE2	heparanase 2 (inactive) in Ochoa syndrome	1
HR	HR lysine demethylase and nuclear receptor corepressor in Hypotrichosis 4	1
HRG	histidine rich glycoprotein in High Altitude Pulmonary Edema	1
HRH1	histamine receptor H1 in Acute Tricyclic Antidepressant Poisoning	1
HRURF	HR upstream open reading frame in Hypotrichosis 4	1
HS3ST6	heparan sulfate-glucosamine 3-sulfotransferase 6 in Hereditary Angioedema	1
HS6ST1	heparan sulfate 6-O-sulfotransferase 1 in Kallmann Syndrome	1
HSD11B1	hydroxysteroid 11-beta dehydrogenase 1 in Cortisone Reductase Deficiency	1	function
HSD11B2	hydroxysteroid 11-beta dehydrogenase 2 in apparent mineralocorticoid excess	1	function
HSD17B10	hydroxysteroid 17-beta dehydrogenase 10 in HSD10 Mitochondrial Disease	1	function
HSD17B13	hydroxysteroid 17-beta dehydrogenase 13 in Metabolic Dysfunction-Associated Steatotic Liver Disease	1
HSD17B3	hydroxysteroid 17-beta dehydrogenase 3 in 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	1	function
HSD3B2	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 in Congenital Adrenal Hyperplasia	1	function
HSD3B7	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 in Inborn Disorder of Bile Acid Synthesis	1	function
HSF4	in Cataract 5 Multiple Types	1
HSPA9	heat shock protein family A (Hsp70) member 9 in EVEN-PLUS Syndrome	1	function
HSPB3	heat shock protein family B (small) member 3 in Distal Hereditary Motor Neuronopathy, Autosomal Dominant	1	function
HTR3E	5-hydroxytryptamine receptor 3E in Irritable Bowel Syndrome	1
HTRA1	HtrA serine peptidase 1 in Age-Related Macular Degeneration	1
HTT	huntingtin in Huntington Disease	1	function
HUWE1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 in X-linked Syndromic Intellectual Disability, Turner Type	1
HYAL2	hyaluronidase 2 in Muggenthaler-Chowdhury-Chioza Syndrome	1
HYDIN	in Primary_Ciliary_Dyskinesia	1
HYLS1	HYLS1 centriolar and ciliogenesis associated in Joubert syndrome	1
HYOU1	hypoxia up-regulated 1 in Marinesco-Sjogren Syndrome	1
IARS1	isoleucyl-tRNA synthetase 1 in Antisynthetase Syndrome	1
IARS2	isoleucyl-tRNA synthetase 2, mitochondrial in CAGSSS Syndrome	1
IBA57	iron-sulfur cluster assembly factor IBA57 in Complex Hereditary Spastic Paraplegia	1	function
ICAM1	intercellular adhesion molecule 1 in Kawasaki Disease	1
ICAM5	intercellular adhesion molecule 5 in Acute Flaccid Myelitis	1
ICOS	inducible T cell costimulator in Common Variable Immunodeficiency	1
ID3	inhibitor of DNA binding 3 in Burkitt Lymphoma	1
IFITM5	interferon induced transmembrane protein 5 in Osteogenesis Imperfecta Type V	1
IFNL3	interferon lambda 3 in Hepatitis C	1
IFT122	intraflagellar transport 122 in Cranioectodermal Dysplasia	1
IFT27	intraflagellar transport 27 in Bardet-Biedl syndrome	1
IFT43	intraflagellar transport 43 in Cranioectodermal Dysplasia	1
IFT52	intraflagellar transport 52 in Cranioectodermal Dysplasia	1
IFT54	intraflagellar transport 54 in Senior-Loken Syndrome	1
IFT56	intraflagellar transport 56 in Biliary, Renal, Neurologic, and Skeletal Syndrome	1
IFT57	intraflagellar transport 57 in Orofaciodigital Syndrome	1
IGBP1	immunoglobulin binding protein 1 in Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	1
IGFALS	insulin like growth factor binding protein acid labile subunit in Growth Hormone Insensitivity Syndrome	1
IGH	immunoglobulin heavy locus in Multiple Myeloma	1
IGHA1	immunoglobulin heavy constant alpha 1 in Heavy Chain Disease	1
IGHG1	immunoglobulin heavy constant gamma 1 (G1m marker) in Heavy Chain Disease	1
IGLL1	immunoglobulin lambda like polypeptide 1 in Autosomal Agammaglobulinemia	1
IGSF1	immunoglobulin superfamily member 1 in Central Congenital Hypothyroidism	1
IKZF2	in ICHAD Syndrome	1
IL10RA	interleukin 10 receptor subunit alpha in Interleukin-10 Receptor Deficiency	1
IL12A	interleukin 12A in Primary Biliary Cholangitis	1
IL12RB2	interleukin 12 receptor subunit beta 2 in Primary Biliary Cholangitis	1
IL17F	interleukin 17F in Chronic Mucocutaneous Candidiasis	1
IL17RA	interleukin 17 receptor A in Chronic Mucocutaneous Candidiasis	1
IL17RC	interleukin 17 receptor C in Chronic Mucocutaneous Candidiasis	1
IL17RD	interleukin 17 receptor D in Hypogonadotropic Hypogonadism 18 With or Without Anosmia	1
IL1A	interleukin 1 alpha in Deficiency of the Interleukin-1 Receptor Antagonist	1
IL1RAPL1	interleukin 1 receptor accessory protein like 1 in Non-Syndromic X-Linked Intellectual Disability	1
IL2	interleukin 2 in Celiac Disease	1
IL23A	interleukin 23 subunit alpha in Kawasaki Disease	1
IL27RA	interleukin 27 receptor subunit alpha in Sarcoidosis	1
IL2RB	interleukin 2 receptor subunit beta in Immunodeficiency 63 with Lymphoproliferation and Autoimmunity	1
IL31	interleukin 31 in Atopic Dermatitis	1
IL31RA	interleukin 31 receptor A in Primary Cutaneous Amyloidosis	1
IL33	interleukin 33 in Eosinophilic Esophagitis	1
IL36R	interleukin 36 receptor in Psoriasis	1
IL3RA	interleukin 3 receptor subunit alpha in Blastic Plasmacytoid Dendritic Cell Neoplasm	1
IMPA1	inositol monophosphatase 1 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
IMPDH2	inosine monophosphate dehydrogenase 2 in Autosomal Dominant Dopa-Responsive Dystonia	1	function
IMPG1	interphotoreceptor matrix proteoglycan 1 in Adult-Onset Foveomacular Vitelliform Dystrophy	1
IMPG2	interphotoreceptor matrix proteoglycan 2 in Adult-Onset Foveomacular Vitelliform Dystrophy	1
INPP5E	inositol polyphosphate-5-phosphatase E in Joubert syndrome	1
INPP5K	in INPP5K-Related Congenital Muscular Dystrophy	1
INSL3	insulin like 3 in Klinefelter Syndrome	1
INTS13	integrator complex subunit 13 in Orofaciodigital Syndrome	1
IQCB1	IQ motif containing B1 in Senior-Loken Syndrome	1
IQSEC2	IQ motif and Sec7 domain ArfGEF 2 in Non-Syndromic X-Linked Intellectual Disability	1
IRAK4	interleukin 1 receptor associated kinase 4 in Immunodeficiency 67	1
IREB2	iron responsive element binding protein 2 in IREB2-Related Neurodegeneration	1
IRF2BP2	interferon regulatory factor 2 binding protein 2 in Common Variable Immunodeficiency	1
IRF2BPL	interferon regulatory factor 2 binding protein like in IRF2BPL-Related Neurodevelopmental Disorder with Regression	1
IRF6	interferon regulatory factor 6 in Cleft Lip/Palate	1
IRF9	interferon regulatory factor 9 in Immunodeficiency 65 (IRF9 Deficiency)	1
IRS1	insulin receptor substrate 1 in Sarcopenia	1
IRS4	insulin receptor substrate 4 in Central Congenital Hypothyroidism	1
IRX5	iroquois homeobox 5 in IRX5-related craniofacial dysostosis with osteopenia, intellectual disability, and dental anomalies	1
ISCA1	iron-sulfur cluster assembly 1 in Multiple Mitochondrial Dysfunctions Syndrome 5	1	function
ISCA2	iron-sulfur cluster assembly 2 in Multiple Mitochondrial Dysfunctions Syndrome 4	1	function
ISCU	iron-sulfur cluster assembly enzyme in ISCU Myopathy	1	function
ISG15	ISG15 ubiquitin like modifier in Mendelian Susceptibility To Mycobacterial Diseases Due To Complete ISG15 Deficiency	1
ISL1	ISL LIM homeobox 1 in Exstrophy-Epispadias Complex	1
ITGA2	integrin subunit alpha 2 in Keratoconus	1
ITGA3	integrin subunit alpha 3 in Junctional Epidermolysis Bullosa	1
ITGA8	integrin subunit alpha 8 in Renal Agenesis	1
ITGAM	integrin subunit alpha M in Alzheimer Disease	1
ITGAV	integrin subunit alpha V in Marfan Syndrome	1
ITGB1	integrin subunit beta 1 in Vein of Galen malformation	1
ITGB3	integrin subunit beta 3 in Glanzmann Thrombasthenia	1
ITGB6	integrin subunit beta 6 in Amelogenesis Imperfecta	1
ITK	in Lymphoproliferative Syndrome 1	1
ITM2B	integral membrane protein 2B in ADan amyloidosis	1
ITPA	inosine triphosphatase in Genetic Developmental and Epileptic Encephalopathy	1
ITPKC	inositol-trisphosphate 3-kinase C in Kawasaki Disease	1
ITPR3	inositol 1,4,5-trisphosphate receptor type 3 in Charcot-Marie-Tooth Disease Type 1	1
IVD	isovaleryl-CoA dehydrogenase in Isovaleric Acidemia	1	function
IVNS1ABP	influenza virus NS1A binding protein in Immunodeficiency 70	1
IYD	iodotyrosine deiodinase in Congenital Hypothyroidism	1
JAG2	jagged canonical Notch ligand 2 in Autosomal Recessive Limb-Girdle Muscular Dystrophy	1
JAK3	Janus kinase 3 in Severe Combined Immunodeficiency	1
JAM2	junctional adhesion molecule 2 in Bilateral Striopallidodentate Calcinosis	1
JPH1	junctophilin 1 in Autosomal dominant Charcot-Marie-Tooth disease type 2K	1
JPH3	junctophilin 3 in Huntington disease-like 2	1
KALRN	kalirin RhoGEF kinase in Coronary Artery Congenital Malformation	1
KANK2	in Wooly Hair-Palmoplantar Keratoderma Syndrome	1
KANSL1	KAT8 regulatory NSL complex subunit 1 in Koolen-de Vries syndrome	1
KAT5	lysine acetyltransferase 5 in Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities	1
KAT6A	lysine acetyltransferase 6A in Arboleda-Tham Syndrome	1
KAT8	lysine acetyltransferase 8 in Li-Ghorbani-Weisz-Hubshman Syndrome	1
KATNIP	katanin interacting protein in Joubert syndrome	1
KBTBD13	kelch repeat and BTB domain containing 13 in Nemaline Myopathy	1
KCNA1	potassium voltage-gated channel subfamily A member 1 in Episodic Ataxia	1
KCNA5	potassium voltage-gated channel subfamily A member 5 in Familial Atrial Fibrillation	1
KCNA7	in Hypokalemic Periodic Paralysis	1
KCNC1	potassium voltage-gated channel subfamily C member 1 in Progressive Myoclonic Epilepsy Type 7	1
KCNC2	potassium voltage-gated channel subfamily C member 2 in Genetic Developmental and Epileptic Encephalopathy	1
KCNC3	potassium voltage-gated channel subfamily C member 3 in Autosomal Dominant Cerebellar Ataxia Type I	1
KCNE3	potassium voltage-gated channel subfamily E regulatory subunit 3 in Brugada syndrome	1
KCNH5	potassium voltage-gated channel subfamily H member 5 in Genetic Developmental and Epileptic Encephalopathy	1
KCNJ1	potassium inwardly rectifying channel subfamily J member 1 in Bartter syndrome	1
KCNJ13	in Leber Congenital Amaurosis 16	1
KCNJ16	potassium inwardly rectifying channel subfamily J member 16 in Hypokalemic Tubulopathy and Deafness	1
KCNK18	potassium two pore domain channel subfamily K member 18 in Migraine with aura	1
KCNMA1	potassium calcium-activated channel subfamily M alpha 1 in Paroxysmal Dyskinesia	1
KCNN3	potassium calcium-activated channel subfamily N member 3 in Zimmermann-Laband Syndrome	1
KCNN4	in Dystonia 24	1
KCNQ1OT1	KCNQ1 opposite strand/antisense transcript 1 in Beckwith-Wiedemann Syndrome	1
KCNQ5	potassium voltage-gated channel subfamily Q member 5 in Autosomal Dominant Non-Syndromic Intellectual Disability	1
KCNT2	potassium sodium-activated channel subfamily T member 2 in Genetic Developmental and Epileptic Encephalopathy	1
KCNV2	potassium voltage-gated channel modifier subfamily V member 2 in KCNV2-Related Retinopathy	1
KCTD1	potassium channel tetramerization domain containing 1 in Taurodontism	1
KCTD16	potassium channel tetramerization domain containing 16 in Postpartum Depression	1	function
KCTD17	potassium channel tetramerization domain containing 17 in Myoclonus-Dystonia Syndrome	1
KDELR2	KDEL endoplasmic reticulum protein retention receptor 2 in Osteogenesis Imperfecta Type XXI	1
KDM3B	lysine demethylase 3B in Diets-Jongmans Syndrome	1
KDM4A	lysine demethylase 4A in Opioid Use Disorder	1
KDM5B	lysine demethylase 5B in Intellectual Disability Autosomal Recessive 65	1
KDM5C	lysine demethylase 5C in Claes-Jensen Type X-Linked Intellectual Disability	1
KDM6B	lysine demethylase 6B in KDM6B-Related Neurodevelopmental Disorder	1
KDSR	3-ketodihydrosphingosine reductase in Erythrokeratodermia Variabilis	1	function
KEL	Kell metallo-endopeptidase (Kell blood group) in Hemolytic Disease of the Fetus and Newborn	1
KHDC3L	KH domain containing 3 like, subcortical maternal complex member in Hydatidiform Mole	1
KIAA0319	KIAA0319 in Dyslexia	1
KIAA0586	KIAA0586 in Joubert syndrome	1
KIAA1549	KIAA1549 in Pilocytic Astrocytoma	1
KICS2	KICSTOR subunit 2 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
KIDINS220	kinase D interacting substrate 220 in Complex Hereditary Spastic Paraplegia	1
KIF11	kinesin family member 11 in Familial Exudative Vitreoretinopathy	1
KIF12	kinesin family member 12 in Progressive Familial Intrahepatic Cholestasis	1
KIF1B	kinesin family member 1B in Charcot-Marie-Tooth Disease Type 2	1
KIF1C	kinesin family member 1C in Complex Hereditary Spastic Paraplegia	1
KIF21A	kinesin family member 21A in Congenital Fibrosis of the Extraocular Muscles	1
KIF23	kinesin family member 23 in Congenital Dyserythropoietic Anemia	1
KIF2A	kinesin family member 2A in KIF2A-related Complex Cortical Dysplasia	1
KIF3C	kinesin family member 3C in Hereditary Gingival Fibromatosis	1
KIF4A	kinesin family member 4A in Intellectual Disability X-linked 100	1
KIFBP	in Goldberg-Shprintzen Syndrome	1
KISS1	KiSS-1 metastasis suppressor in Central Precocious Puberty	1
KISS1R	KISS1 receptor in Central Precocious Puberty	1
KL	klotho	1	summary: verified
KLB	klotho beta in Alcohol Use Disorder	1	function
KLC2	kinesin light chain 2 in Complex Hereditary Spastic Paraplegia	1
KLC4	kinesin light chain 4 in KLC4-Related Early-Childhood-Onset Neurodegeneration	1
KLF10	KLF transcription factor 10 in Hypertrophic Cardiomyopathy	1
KLF11	KLF transcription factor 11 in Diabetes mellitus	1
KLF15	KLF transcription factor 15 in Ewing Sarcoma	1
KLF4	KLF transcription factor 4 in Meningioma	1
KLHDC8B	kelch domain containing 8B in Classic Hodgkin Lymphoma	1
KLHL15	kelch like family member 15 in Non-Syndromic X-Linked Intellectual Disability	1
KLHL40	kelch like family member 40 in Nemaline Myopathy	1
KLHL41	kelch like family member 41 in Nemaline Myopathy	1
KLK11	in Inherited Ichthyosis	1
KLK4	kallikrein related peptidase 4 in Amelogenesis Imperfecta	1
KLKB1	kallikrein B1 in Hereditary Angioedema	1
KLLN	killin, p53 regulated DNA replication inhibitor in Cowden Syndrome	1
KLRK1	killer cell lectin like receptor K1 in Alopecia Areata	1
KMT2B	lysine methyltransferase 2B in KMT2B-Related Dystonia	1
KMT2C	lysine methyltransferase 2C in Kleefstra Syndrome	1
KMT2E	lysine methyltransferase 2E (inactive) in O'Donnell-Luria-Rodan Syndrome	1
KMT5B	lysine methyltransferase 5B in Autosomal Dominant Non-Syndromic Intellectual Disability	1
KNG1	kininogen 1 in Hereditary Angioedema	1
KNL1	kinetochore scaffold 1 in Autosomal Recessive Primary Microcephaly	1
KPNA3	karyopherin subunit alpha 3 in Hereditary Spastic Paraplegia	1
KPNA7	karyopherin subunit alpha 7 in Epilepsy	1
KRIT1	KRIT1 ankyrin repeat containing in Cerebral Cavernous Malformation	1	function
KRT12	keratin 12 in Corneal Dystrophy	1
KRT13	in White Sponge Nevus	1
KRT16	keratin 16 in Pachyonychia Congenita	1
KRT17	keratin 17 in Pachyonychia Congenita	1
KRT2	keratin 2 in Inherited Ichthyosis	1
KRT25	keratin 25 in Isolated Woolly Hair	1
KRT3	keratin 3 in Corneal Dystrophy	1
KRT31	keratin 31 in Monilethrix	1
KRT4	in White Sponge Nevus	1
KRT6A	keratin 6A in Pachyonychia Congenita	1
KRT6B	keratin 6B in Pachyonychia Congenita	1
KRT6C	keratin 6C in Pachyonychia Congenita	1
KRT71	keratin 71 in Isolated Woolly Hair	1
KRT8	keratin 8 in Familial Sick Sinus Syndrome	1
KRT81	keratin 81 in Monilethrix	1
KRT85	keratin 85 in KRT85-Related Pure Hair-Nail Ectodermal Dysplasia	1
KRT86	keratin 86 in Monilethrix	1
KY	kyphoscoliosis peptidase in Myofibrillar Myopathy	1
KYNU	kynureninase in Congenital Vertebral-Cardiac-Renal Anomalies Syndrome	1	function
L2HGDH	L-2-hydroxyglutarate dehydrogenase in L-2-Hydroxyglutaric Aciduria	1
LAG3	lymphocyte activating 3 in Hashimoto's Thyroiditis	1
LAGE3	L antigen family member 3 in Galloway-Mowat syndrome	1
LAMA2	laminin subunit alpha 2 in Congenital Merosin-deficient Muscular Dystrophy 1A	1
LAMA5	laminin subunit alpha 5 in LAMA5-Related Bent Bone Dysplasia	1
LAMB1	laminin subunit beta 1 in LAMB1-Related Cobblestone Lissencephaly	1
LAMB2	in LAMB2-Related Infantile-Onset Nephrotic Syndrome	1
LAMP2	lysosome associated membrane protein 2 in Danon disease	1
LARGE1	LARGE xylosyl- and glucuronyltransferase 1 in Dystroglycanopathy	1
LARS1	leucyl-tRNA synthetase 1 in Infantile Liver Failure Syndrome 1	1
LCA5	lebercilin LCA5 in LCA5-Related Retinopathy	1
LCP2	lymphocyte cytosolic protein 2 in Immunodeficiency 81	1
LDHA	lactate dehydrogenase A in Glycogen Storage Disease Due To Lactate Dehydrogenase M-subunit Deficiency	1	function
LDHB	lactate dehydrogenase B in Embryonal Carcinoma	1	function
LFNG	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase in Spondylocostal Dysostosis	1
LGALSL	galectin like in Amyotrophic Lateral Sclerosis	1
LHX3	LIM homeobox 3 in Combined Pituitary Hormone Deficiencies, Genetic Form	1
LHX4	LIM homeobox 4 in Combined Pituitary Hormone Deficiencies, Genetic Form	1
LIAS	lipoic acid synthetase in Lipoic Acid Synthetase Deficiency	1
LIFR	LIF receptor subunit alpha in LIFR-Related Stuve-Wiedemann Syndrome	1
LIG4	DNA ligase 4 in Severe Combined Immunodeficiency	1
LIMK1	LIM domain kinase 1 in Williams Syndrome	1
LIMS2	LIM zinc finger domain containing 2 in Autosomal Recessive Limb-Girdle Muscular Dystrophy	1
LIN28A	lin-28 RNA binding posttranscriptional regulator A in Embryonal Carcinoma	1
LINS1	lines homolog 1 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
LIPE	lipase E, hormone sensitive type in Familial Partial Lipodystrophy	1	function
LIPH	lipase H in Isolated Woolly Hair	1
LIPN	lipase family member N in Autosomal Recessive Congenital Ichthyosis	1
LIPT1	lipoyltransferase 1 in Lipoyl Transferase 1 Deficiency	1
LIPT2	lipoyl(octanoyl) transferase 2 in Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities	1
LITAF	in Charcot-Marie-Tooth Disease Type 1	1
LMAN2L	lectin, mannose binding 2 like in Autosomal Recessive Non-Syndromic Intellectual Disability	1	function
LMF1	lipase maturation factor 1 in Familial Chylomicronemia Syndrome	1
LMNB1	lamin B1 in Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy	1
LMNB2	in Microcephaly 27, Primary, Autosomal Dominant	1
LMOD3	leiomodin 3 in Nemaline Myopathy	1
LMX1A	LIM homeobox transcription factor 1 alpha in Autosomal Dominant Nonsyndromic Hearing Loss 7	1
LMX1B	LIM homeobox transcription factor 1 beta in Nail-patella Syndrome	1	function
LORICRIN	loricrin cornified envelope precursor protein in Keratoderma Hereditarium Mutilans	1	function
LOXHD1	lipoxygenase homology PLAT domains 1 in Autosomal Recessive Nonsyndromic Hearing Loss 77	1	function
LOXL3	lysyl oxidase like 3 in Spondyloepiphyseal Dysplasia, Nishimura Type	1	function
LPAR6	lysophosphatidic acid receptor 6 in Isolated Woolly Hair	1	function
LPIN1	lipin 1	1	summary: verified function
LPIN2	lipin 2 in Majeed Syndrome	1	function
LRIF1	ligand dependent nuclear receptor interacting factor 1 in Facioscapulohumeral Muscular Dystrophy	1	function
LRIG2	leucine rich repeats and immunoglobulin like domains 2 in Ochoa syndrome	1	function
LRIT3	leucine rich repeat, Ig-like and transmembrane domains 3 in Congenital Stationary Night Blindness	1	function
LRMDA	leucine rich melanocyte differentiation associated in Oculocutaneous Albinism	1	function
LRP8	LDL receptor related protein 8 in Reelin Pathway Lissencephaly	1	function
LRPPRC	leucine rich pentatricopeptide repeat containing in Leigh Syndrome	1	function
LRRC32	leucine rich repeat containing 32 in Cleft Palate, Proliferative Retinopathy, and Developmental Delay	1
LRRC56	leucine rich repeat containing 56 in Primary_Ciliary_Dyskinesia	1
LRRC8A	leucine rich repeat containing 8 VRAC subunit A in Autosomal Agammaglobulinemia	1	function
LRRIQ3	leucine rich repeats and IQ motif containing 3 in Opioid Use Disorder	1
LRRK1	leucine rich repeat kinase 1 in Osteopetrosis	1
LRSAM1	leucine rich repeat and sterile alpha motif containing 1 in Charcot-Marie-Tooth Disease Axonal Type 2P	1	function
LSM11	LSM11, U7 small nuclear RNA associated in Aicardi-Goutieres Syndrome	1
LSS	lanosterol synthase in Alopecia-Intellectual Disability Syndrome 4	1	function
LTA	lymphotoxin alpha in Byssinosis	1
LTB4R	leukotriene B4 receptor in Mucous Membrane Pemphigoid	1
LTBP1	latent transforming growth factor beta binding protein 1 in Cutis Laxa Autosomal Recessive Type 2E	1
LTBP4	latent transforming growth factor beta binding protein 4 in Duchenne Muscular Dystrophy	1
LYSET	lysosomal enzyme trafficking factor	1	summary: verified
LYZ	lysozyme in Familial Visceral Amyloidosis	1
LZTFL1	leucine zipper transcription factor like 1 in Bardet-Biedl syndrome	1	function
M1AP	in Spermatogenic failure 48	1
MACF1	microtubule actin crosslinking factor 1 in Lissencephaly Spectrum Disorders	1
MAD1L1	mitotic arrest deficient 1 like 1 in Mosaic Variegated Aneuploidy Syndrome	1
MAD2L2	mitotic arrest deficient 2 like 2 in Fanconi_Anemia	1	function
MADD	MAP kinase activating death domain in Deeah Syndrome	1
MAF	MAF bZIP transcription factor in Ayme-Gripp syndrome	1
MAG	myelin associated glycoprotein in Complex Hereditary Spastic Paraplegia	1
MAGED2	MAGE family member D2 in Bartter syndrome	1
MAGT1	magnesium transporter 1 in Congenital Disorder of Glycosylation, Type ICC	1	function
MAML2	mastermind like transcriptional coactivator 2 in Mucoepidermoid Carcinoma	1
MAN1B1	mannosidase alpha class 1B member 1 in Autosomal Recessive Non-Syndromic Intellectual Disability	1	function
MAN2B1	mannosidase alpha class 2B member 1 in Alpha-mannosidosis	1
MAN2C1	mannosidase alpha class 2C member 1 in MAN2C1-congenital disorder of deglycosylation 2	1
MANBA	mannosidase beta in Beta Mannosidosis	1
MANF	mesencephalic astrocyte derived neurotrophic factor in Diabetes Deafness Developmental Delay and Short Stature Syndrome	1
MAOA	monoamine oxidase A in Antisocial Personality Disorder	1
MAP2K5	mitogen-activated protein kinase kinase 5 in Familial Nonmedullary Thyroid Carcinoma	1
MAP3K14	mitogen-activated protein kinase kinase kinase 14 in Classic Hodgkin Lymphoma	1
MAP3K7	mitogen-activated protein kinase kinase kinase 7 in Cardiospondylocarpofacial syndrome	1
MAPK1	mitogen-activated protein kinase 1 in Noonan Syndrome	1	function
MAPK14	in Major Depressive Disorder	1
MAPK8IP2	mitogen-activated protein kinase 8 interacting protein 2 in Major Depressive Disorder	1
MAPKBP1	mitogen-activated protein kinase binding protein 1 in Nephronophthisis	1
MARCHF6	membrane associated ring-CH-type finger 6 in Pentanucleotide Repeat Familial Adult Myoclonus Epilepsy	1
MARCKSL1	in Fetal Valproate Syndrome	1
MARK2	microtubule affinity regulating kinase 2 in Advanced Sleep Phase Syndrome	1
MASP1	MBL associated serine protease 1 in 3MC Syndrome	1
MASP2	in Immunodeficiency Due To MASP-2 Deficiency	1
MAST3	microtubule associated serine/threonine kinase 3 in Genetic Developmental and Epileptic Encephalopathy	1
MAT1A	methionine adenosyltransferase 1A in Inborn Disorder of Methionine Cycle and Sulfur Amino Acid Metabolism	1	function
MAT2A	methionine adenosyltransferase 2A in Familial Thoracic Aortic Aneurysm and Aortic Dissection	1
MATN3	matrilin 3 in Multiple Epiphyseal Dysplasia	1
MATR3	matrin 3 in Amyotrophic Lateral Sclerosis	1
MBD5	methyl-CpG binding domain protein 5 in MBD5 Haploinsufficiency Syndrome	1
MBNL1	muscleblind like splicing regulator 1 in Spinocerebellar Ataxia Type 8	1
MBP	myelin basic protein in Chromosome 18q Deletion Syndrome	1
MBTPS1	membrane bound transcription factor peptidase, site 1 in Spondyloepiphyseal Dysplasia, Kondo-Fu Type	1
MCCC1	methylcrotonyl-CoA carboxylase subunit 1 in 3-Methylcrotonyl-CoA Carboxylase Deficiency	1	function
MCCC2	methylcrotonyl-CoA carboxylase subunit 2 in 3-Methylcrotonyl-CoA Carboxylase Deficiency	1	function
MCFD2	multiple coagulation factor deficiency 2, ER cargo receptor complex subunit in Rosacea	1
MCHR2	melanin concentrating hormone receptor 2 in Binge Eating Disorder	1
MCIDAS	multiciliate differentiation and DNA synthesis associated cell cycle protein in Primary_Ciliary_Dyskinesia	1
MCM10	minichromosome maintenance 10 replication initiation factor in Immunodeficiency 80 with or without Congenital Cardiomyopathy	1
MCM3	minichromosome maintenance complex component 3 in Meier-Gorlin syndrome	1
MCM3AP	minichromosome maintenance complex component 3 associated protein in MCM3AP-Related Peripheral Neuropathy	1
MCM5	minichromosome maintenance complex component 5 in Meier-Gorlin syndrome	1
MCM6	minichromosome maintenance complex component 6 in Adult-Type Hypolactasia	1
MCM7	minichromosome maintenance complex component 7 in Meier-Gorlin syndrome	1
MCM8	minichromosome maintenance 8 homologous recombination repair factor in MCM8-related gametogenic failure	1
MCPH1	microcephalin 1 in Autosomal Recessive Primary Microcephaly	1
MCTS1	MCTS1 re-initiation and release factor in Immunodeficiency 118	1	function
MDH2	malate dehydrogenase 2 in Genetic Developmental and Epileptic Encephalopathy	1	function
MDM4	MDM4 regulator of p53 in Bone Marrow Failure Syndrome 6	1
MECOM	MDS1 and EVI1 complex locus in Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia	1
MECR	mitochondrial trans-2-enoyl-CoA reductase in MEPAN Syndrome	1
MED20	mediator complex subunit 20 in Mediator Complex Neurodevelopmental Disorder	1
MEF2A	myocyte enhancer factor 2A in Coronary Artery Congenital Malformation	1
MEF2C-AS1	MEF2C antisense RNA 1 in MEF2C-Related Disorder	1
MEF2D	myocyte enhancer factor 2D in B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality	1
MEGF8	multiple EGF like domains 8 in MEGF8-related Carpenter Syndrome	1
MEI1	meiotic double-stranded break formation protein 1 in Hydatidiform Mole	1
MEIS1	Meis homeobox 1 in Restless Legs Syndrome	1
MEOX1	mesenchyme homeobox 1 in Klippel-Feil Syndrome	1
MERTK	MER proto-oncogene, tyrosine kinase in MERTK-Related Retinopathy	1
MESD	mesoderm development LRP chaperone in Osteogenesis Imperfecta Type XX	1
MESP2	mesoderm posterior bHLH transcription factor 2 in Spondylocostal Dysostosis	1
METTL13	methyltransferase 13, eEF1A N-terminus and K55 in Autosomal Recessive Nonsyndromic Hearing Loss 26	1
METTL23	methyltransferase 23, arginine in Autosomal Recessive Non-Syndromic Intellectual Disability	1
METTL5	methyltransferase 5, N6-adenosine in Autosomal Recessive Non-Syndromic Intellectual Disability	1
MFAP5	microfibril associated protein 5 in Familial Thoracic Aortic Aneurysm and Aortic Dissection	1
MFF	mitochondrial fission factor	1	summary: verified
MFRP	membrane frizzled-related protein in Isolated Anophthalmia-Microphthalmia Syndrome	1
MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid in Autosomal Recessive Primary Microcephaly	1
MFSD6	major facilitator superfamily domain containing 6 in Acute Flaccid Myelitis	1
MGAT2	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase in MGAT2-congenital disorder of glycosylation	1
MGMT	O-6-methylguanine-DNA methyltransferase in Diffuse Astrocytoma	1
MGP	matrix Gla protein in Keutel Syndrome	1	function
MICAL1	microtubule associated monooxygenase, calponin and LIM domain containing 1 in Autosomal Dominant Epilepsy with Auditory Features	1
MICOS13	mitochondrial contact site and cristae organizing system subunit 13 in Combined Oxidative Phosphorylation Defect Type 37	1
MICU1	in Proximal Myopathy With Extrapyramidal Signs	1
MID2	midline 2 in Non-Syndromic X-Linked Intellectual Disability	1
MIEF1	mitochondrial elongation factor 1 in Optic Atrophy 14	1
MINAR2	membrane integral NOTCH2 associated receptor 2 in Hearing Loss Autosomal Recessive 120	1
MINPP1	multiple inositol-polyphosphate phosphatase 1 in Pontocerebellar Hypoplasia	1
MIR140	microRNA 140 in Spondyloepiphyseal Dysplasia, Nishimura Type	1
MIR143	microRNA 143 in Glomus Tumor	1
MIR17HG	miR-17-92a-1 cluster host gene in Feingold Syndrome	1
MIR183	microRNA 183 in Autosomal Dominant Nonsyndromic Hearing Loss 50	1
MIR96	microRNA 96 in Autosomal Dominant Nonsyndromic Hearing Loss 50	1
MLC1	modulator of VRAC current 1 in CLCN2-Related Leukoencephalopathy	1
MLX	MAX dimerization protein MLX in Takayasu Arteritis	1
MLYCD	malonyl-CoA decarboxylase in Malonic Aciduria	1
MMP1	matrix metallopeptidase 1 in Preterm Premature Rupture of the Membranes	1
MMP12	matrix metallopeptidase 12 in Chronic_Obstructive_Pulmonary_Disease	1
MMP14	in Winchester Syndrome	1
MMP20	matrix metallopeptidase 20 in Amelogenesis Imperfecta	1
MMUT	methylmalonyl-CoA mutase in Methylmalonic Acidemia	1	function
MNS1	meiosis specific nuclear structural 1 in Visceral Heterotaxy 9	1
MOCOS	molybdenum cofactor sulfurase in Hereditary Xanthinuria	1	function
MOCS1	molybdenum cofactor synthesis 1 in Molybdenum Cofactor Deficiency Type A	1	function
MOGS	mannosyl-oligosaccharide glucosidase in MOGS-Congenital Disorder of Glycosylation	1
MORC3	MORC family CW-type zinc finger 3 in Dermatomyositis	1	function
MPC1	in Mitochondrial Pyruvate Carrier Deficiency	1
MPC2	in Mitochondrial Pyruvate Carrier Deficiency	1
MPDU1	mannose-P-dolichol utilization defect 1 in MPDU1-congenital disorder of glycosylation	1	function
MPDZ	multiple PDZ domain crumbs cell polarity complex component in Congenital Hydrocephalus	1
MPI	mannose phosphate isomerase in MPI-congenital disorder of glycosylation	1
MPLKIP	M-phase specific PLK1 interacting protein in Trichothiodystrophy	1
MPV17	mitochondrial inner membrane protein MPV17 in Charcot-Marie-Tooth Disease Type 2	1
MRAP	melanocortin 2 receptor accessory protein in Familial Glucocorticoid Deficiency	1
MRM2	in Mitochondrial DNA Depletion Syndrome 17	1
MRPL44	mitochondrial ribosomal protein L44 in MRPL44 Deficiency	1
MRPS2	mitochondrial ribosomal protein S2 in Combined Oxidative Phosphorylation Deficiency 36	1
MRPS22	mitochondrial ribosomal protein S22 in 46,XX Gonadal Dysgenesis	1
MRTFA	myocardin related transcription factor A in Acute Megakaryoblastic Leukemia	1
MRTFB	in Dilated Cardiomyopathy 2G	1
MS4A1	membrane spanning 4-domains A1 in Common Variable Immunodeficiency	1
MSANTD3	Myb/SANT DNA binding domain containing 3 in Fatal Familial Insomnia	1
MSMO1	methylsterol monooxygenase 1	1	summary: verified function
MSN	moesin in Combined Immunodeficiency Due To Moesin Deficiency	1
MSR1	macrophage scavenger receptor 1 in Rosacea	1
MSTN	myostatin in Sarcopenia	1
MSTO1	misato mitochondrial distribution and morphology regulator 1 in MSTO1-Related Mitochondrial Myopathy	1
MT-ATP8	mitochondrially encoded ATP synthase membrane subunit 8 in MT-ATP6/MT-ATP8-Related Infantile Hypertrophic Cardiomyopathy	1
MT-ND3	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 in Leber Optic Atrophy and Dystonia	1
MT-TC	mitochondrially encoded tRNA-Cys (UGU/C)	1	summary: verified
MT-TE	mitochondrially encoded tRNA-Glu (GAA/G) in Reversible Infantile Cytochrome c Oxidase Deficiency	1
MT-TH	mitochondrially encoded tRNA-His (CAU/C)	1	summary: verified
MT-TI	mitochondrially encoded tRNA-Ile (AUU/C) in Hypertrophic Cardiomyopathy	1
MT-TL1	mitochondrially encoded tRNA-Leu (UUA/G) 1	1	summary: verified
MT-TM	mitochondrially encoded tRNA-Met (AUA/G)	1	summary: verified
MT-TQ	mitochondrially encoded tRNA-Gln (CAA/G)	1	summary: verified
MT-TS2	mitochondrially encoded tRNA-Ser (AGU/C) 2	1	summary: verified
MT-TW	mitochondrially encoded tRNA-Trp (UGA/G)	1	summary: verified
MT1A	metallothionein 1A in Cadmium Poisoning	1
MT2A	metallothionein 2A in Cadmium Poisoning	1
MTAP	methylthioadenosine phosphorylase in Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma	1
MTFMT	mitochondrial methionyl-tRNA formyltransferase	1	summary: verified
MTHFD1	methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1	1	summary: verified function
MTM1	myotubularin 1 in Centronuclear Myopathy	1
MTNR1B	melatonin receptor 1B in Gestational Diabetes Mellitus	1
MTO1	mitochondrial tRNA translation optimization 1 in MTO1 Deficiency	1
MTRFR	mitochondrial translation release factor in rescue in Combined Oxidative Phosphorylation Defect Type 7	1
MTTP	microsomal triglyceride transfer protein in Abetalipoproteinemia	1
MUC1	mucin 1, cell surface associated in Ectopic Pregnancy	1	function
MUC5B	mucin 5B, oligomeric mucus/gel-forming in Idiopathic Pulmonary Fibrosis	1
MUSK	muscle associated receptor tyrosine kinase in Congenital Myasthenic Syndrome	1
MVD	mevalonate diphosphate decarboxylase in Porokeratosis	1	function
MYBL1	MYB proto-oncogene like 1 in Adenoid Cystic Carcinoma	1
MYBPC1	myosin binding protein C1 in Lethal Congenital Contracture Syndrome	1
MYH2	myosin heavy chain 2 in MYH2-Related Myopathy	1
MYH9	myosin heavy chain 9 in Autosomal Dominant Nonsyndromic Hearing Loss 17	1	function
MYLK3	myosin light chain kinase 3 in Dilated Cardiomyopathy	1
MYO18B	myosin XVIIIB in Klippel-Feil Syndrome	1
MYO1B	myosin IB in Chromosome 2q32-q33 Deletion Syndrome	1
MYO1E	myosin IE in Focal Segmental Glomerulosclerosis	1
MYO3A	myosin IIIA in Autosomal Recessive Nonsyndromic Hearing Loss 30	1
MYO6	myosin VI in MYO6_Hearing_Loss	1
MYO9A	myosin IXA in Congenital Myasthenic Syndrome	1
MYOD1	myogenic differentiation 1 in Embryonal Rhabdomyosarcoma	1
MYOF	myoferlin in Hereditary Angioedema	1
MYORG	myogenesis regulating glycosidase in Bilateral Striopallidodentate Calcinosis	1
MYOT	myotilin in Myofibrillar Myopathy	1
MYOZ2	myozenin 2 in Hypertrophic Cardiomyopathy	1
MYSM1	Myb like, SWIRM and MPN domains 1 in Bone Marrow Failure Syndrome 4	1
MYT1	myelin transcription factor 1 in Craniofacial Microsomia	1
MYZAP	myocardial zonula adherens protein in Dilated Cardiomyopathy	1
NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit in Autosomal Dominant Non-Syndromic Intellectual Disability	1	function
NAA20	N-alpha-acetyltransferase 20, NatB catalytic subunit in Autosomal Recessive Non-Syndromic Intellectual Disability	1
NAA60	N-alpha-acetyltransferase 60, NatF catalytic subunit in Bilateral Striopallidodentate Calcinosis	1
NAA80	N-alpha-acetyltransferase 80, NatH catalytic subunit in Auroneurodental Syndrome	1
NAB2	NGFI-A binding protein 2 in Solitary Fibrous Tumor	1
NADK2	NAD kinase 2, mitochondrial in DECR Deficiency	1	function
NADSYN1	NAD synthetase 1 in Congenital Vertebral-Cardiac-Renal Anomalies Syndrome	1	function
NAF1	nuclear assembly factor 1 ribonucleoprotein in Dyskeratosis Congenita	1
NAGPA	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase in Developmental Stuttering	1
NAMPT	nicotinamide phosphoribosyltransferase in Leptospirosis	1	function
NANOG	Nanog homeobox in Embryonal Carcinoma	1
NAPB	NSF attachment protein beta in Genetic Developmental and Epileptic Encephalopathy	1
NARS2	asparaginyl-tRNA synthetase 2, mitochondrial in Combined Oxidative Phosphorylation Defect Type 24	1
NAT2	N-acetyltransferase 2 in Isoniazid Toxicity	1
NAV1	neuron navigator 1 in Aortic Valve Stenosis	1
NAXD	NAD(P)HX dehydratase in NAD(P)HX Dehydratase Deficiency	1
NBEAL2	neurobeachin like 2 in Gray Platelet Syndrome	1
NBN	nibrin in Nijmegen breakage syndrome	1
NBR1	NBR1 autophagy cargo receptor in Pancreatic Ductal Adenocarcinoma	1	function
NCAM1	neural cell adhesion molecule 1 in Hirschsprung Disease	1
NCAN	neurocan in Bipolar Disorder	1
NCAPD2	non-SMC condensin I complex subunit D2 in Autosomal Recessive Primary Microcephaly	1
NCAPD3	non-SMC condensin II complex subunit D3 in Autosomal Recessive Primary Microcephaly	1
NCAPH	non-SMC condensin I complex subunit H in Autosomal Recessive Primary Microcephaly	1
NCBP2	nuclear cap binding protein subunit 2 in Chromosome 3q29 Microdeletion Syndrome	1
NCF2	neutrophil cytosolic factor 2 in Chronic Granulomatous Disease	1
NCF4	neutrophil cytosolic factor 4 in Chronic Granulomatous Disease	1
NCOA1	nuclear receptor coactivator 1 in Obesity Due to MC4R Pathway Disruption	1
NCOA2	nuclear receptor coactivator 2 in Chondrosarcoma	1
NCOA4	nuclear receptor coactivator 4 in Idiopathic Multicentric Castleman Disease	1	function
NCSTN	nicastrin in Hidradenitis Suppurativa	1	function
NDE1	nudE neurodevelopment protein 1 in NDE1-related Microcephaly-Lissencephaly	1	function
NDEL1	nudE neurodevelopment protein 1 like 1 in Lissencephaly Spectrum Disorders	1	function
NDN	necdin, MAGE family member in Prader-Willi Syndrome	1
NDST1	N-deacetylase and N-sulfotransferase 1 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
NDUFA1	NADH:ubiquinone oxidoreductase subunit A1	1	summary: verified function
NDUFA10	NADH:ubiquinone oxidoreductase subunit A10 in Mitochondrial Complex I Deficiency, Nuclear Type 22	1	function
NDUFA11	NADH:ubiquinone oxidoreductase subunit A11 in Mitochondrial Complex I Deficiency, Nuclear Type 14	1	function
NDUFA12	NADH:ubiquinone oxidoreductase subunit A12 in Mitochondrial Complex I Deficiency Nuclear Type 23	1	function
NDUFA2	NADH:ubiquinone oxidoreductase subunit A2 in Mitochondrial Complex I Deficiency, Nuclear Type 13	1	function
NDUFA4L2	in COXFA4-Related COX Deficiency	1
NDUFA6	NADH:ubiquinone oxidoreductase subunit A6 in Mitochondrial Complex I Deficiency, Nuclear Type 33	1	function
NDUFA9	NADH:ubiquinone oxidoreductase subunit A9 in Mitochondrial Complex I Deficiency, Nuclear Type 26	1	function
NDUFAF1	NADH:ubiquinone oxidoreductase complex assembly factor 1 in Mitochondrial Complex I Deficiency, Nuclear Type 11	1	function
NDUFAF2	NADH:ubiquinone oxidoreductase complex assembly factor 2 in Histiocytoid Cardiomyopathy	1	function
NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3 in Mitochondrial Complex I Deficiency, Nuclear Type 18	1	function
NDUFAF4	NADH:ubiquinone oxidoreductase complex assembly factor 4 in Mitochondrial Complex I Deficiency, Nuclear Type 15	1	function
NDUFAF8	NADH:ubiquinone oxidoreductase complex assembly factor 8 in Mitochondrial Complex I Deficiency, Nuclear Type 34	1	function
NDUFB11	NADH:ubiquinone oxidoreductase subunit B11 in Histiocytoid Cardiomyopathy	1	function
NDUFB7	NADH:ubiquinone oxidoreductase subunit B7 in Mitochondrial Complex I Deficiency, Nuclear Type 39	1	function
NDUFB8	NADH:ubiquinone oxidoreductase subunit B8 in Mitochondrial Complex I Deficiency, Nuclear Type 32	1	function
NDUFC2	NADH:ubiquinone oxidoreductase subunit C2 in Mitochondrial Complex I Deficiency, Nuclear Type 36	1	function
NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1 in Mitochondrial Complex I Deficiency, Nuclear Type 13	1	function
NDUFS2	NADH:ubiquinone oxidoreductase core subunit S2	1	summary: verified function
NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	1	summary: verified function
NDUFS8	NADH:ubiquinone oxidoreductase core subunit S8	1	summary: verified function
NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2 in Mitochondrial Complex I Deficiency, Nuclear Type 13	1	function
NEB	nebulin in Nemaline Myopathy	1
NEBL	nebulette in Dilated Cardiomyopathy	1
NECAP1	NECAP endocytosis associated 1 in Undetermined Early-Onset Epileptic Encephalopathy	1
NECTIN1	nectin cell adhesion molecule 1 in Zlotogora-Ogur Syndrome	1
NEDD4L	NEDD4 like E3 ubiquitin protein ligase in Periventricular Nodular Heterotopia	1
NEK10	in Primary_Ciliary_Dyskinesia	1
NEK9	NIMA related kinase 9 in Lethal Congenital Contracture Syndrome	1
NEUROD1	neuronal differentiation 1 in Diabetes mellitus	1	function
NEUROD2	neuronal differentiation 2 in NEUROD2-Related Developmental and Epileptic Encephalopathy	1
NEUROG1	neurogenin 1 in Congenital Cranial Dysinnervation Disorder with Absent Corneal Reflex and Developmental Delay	1	function
NEXMIF	neurite extension and migration factor in Jeavons Syndrome	1
NFASC	in Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction	1
NFATC1	nuclear factor of activated T cells 1 in Atrioventricular Septal Defect	1
NFIB	nuclear factor I B in Adenoid Cystic Carcinoma	1
NFKB2	nuclear factor kappa B subunit 2 in Common Variable Immunodeficiency	1
NFKBIZ	in Ulcerative Colitis	1
NFU1	NFU1 iron-sulfur cluster scaffold in Multiple Mitochondrial Dysfunctions Syndrome 1	1	function
NGLY1	N-glycanase 1 in NGLY1-congenital disorder of deglycosylation	1
NHLRC2	in Fibrosis, Neurodegeneration, and Cerebral Angiomatosis	1
NHS	in Nance-Horan Syndrome	1
NID1	nidogen 1 in Familial Nonmedullary Thyroid Carcinoma	1	function
NIN	ninein in Seckel syndrome	1
NIPA2	NIPA magnesium transporter 2 in Prader-Willi Syndrome	1
NKAP	in Hackmann-Di Donato Syndrome	1
NKX2-2	NK2 homeobox 2 in Ewing Sarcoma	1
NKX3-1	NK3 homeobox 1 in Spondylo-megaepiphyseal-metaphyseal Dysplasia	1
NKX3-2	NK3 homeobox 2 in Spondylo-megaepiphyseal-metaphyseal Dysplasia	1
NLRC4	NLR family CARD domain containing 4 in Pediatric Acute-onset Neuropsychiatric Syndrome	1
NLRP12	NLR family pyrin domain containing 12 in Familial Cold Autoinflammatory Syndrome	1
NLRP7	NLR family pyrin domain containing 7 in Hydatidiform Mole	1
NME5	in Primary_Ciliary_Dyskinesia	1
NME8	NME/NM23 family member 8 in Primary_Ciliary_Dyskinesia	1
NMNAT1	nicotinamide nucleotide adenylyltransferase 1 in Leber Congenital Amaurosis 9	1	function
NNT	nicotinamide nucleotide transhydrogenase in Familial Glucocorticoid Deficiency	1
NODAL	nodal growth differentiation factor in Primary_Ciliary_Dyskinesia	1
NOP10	NOP10 ribonucleoprotein in Dyskeratosis Congenita	1
NOS1AP	nitric oxide synthase 1 adaptor protein in Jervell and Lange-Nielsen Syndrome 1	1
NOS2	nitric oxide synthase 2 in Marfan Syndrome	1
NOTCH4	notch receptor 4 in Sarcoidosis	1
NOVA2	NOVA alternative splicing regulator 2 in Pentanucleotide Repeat Familial Adult Myoclonus Epilepsy	1	function
NOX3	NADPH oxidase 3 in Noise Induced Hearing Loss	1
NPHS1	NPHS1 adhesion molecule, nephrin in Minimal Change Disease	1
NPNT	nephronectin in Intracranial berry aneurysm	1
NPRL2	NPR2 like, GATOR1 complex subunit in Familial Focal Epilepsy With Variable Foci	1
NPTX1	neuronal pentraxin 1 in Autosomal Dominant Cerebellar Ataxia	1
NPY	neuropeptide Y in Generalized Anxiety Disorder	1
NQO1	NAD(P)H quinone dehydrogenase 1 in Leber Hereditary Optic Neuropathy	1
NR0B1	nuclear receptor subfamily 0 group B member 1 in 46,XY complete gonadal dysgenesis	1
NR1H2	nuclear receptor subfamily 1 group H member 2 in MSMO1 Deficiency	1
NR1H3	nuclear receptor subfamily 1 group H member 3 in MSMO1 Deficiency	1
NR2E3	nuclear receptor subfamily 2 group E member 3 in Enhanced S-Cone Syndrome	1
NR4A2	nuclear receptor subfamily 4 group A member 2 in Autosomal Dominant Dopa-Responsive Dystonia	1
NR5A2	nuclear receptor subfamily 5 group A member 2 in Hospital-Acquired Acute Kidney Injury	1
NRBP1	nuclear receptor binding protein 1 in Aortic Valve Stenosis	1
NRCAM	neuronal cell adhesion molecule in Neurodevelopmental Disorder with Neuromuscular and Skeletal Abnormalities	1
NRG3	neuregulin 3 in WAPL-Related Developmental Disorder	1
NRTN	neurturin in Hirschsprung Disease	1
NRXN1	neurexin 1 in Schizophrenia	1
NSD1	nuclear receptor binding SET domain protein 1 in Sotos Syndrome	1
NSD2	nuclear receptor binding SET domain protein 2 in Wolf-Hirschhorn_Syndrome	1
NSDHL	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	1	summary: verified function
NSF	N-ethylmaleimide sensitive factor, vesicle fusing ATPase in Genetic Developmental and Epileptic Encephalopathy	1
NSMCE2	NSE2 SUMO ligase component of SMC5/6 complex in Seckel syndrome	1
NSMCE3	in Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome	1
NSMF	NMDA receptor synaptonuclear signaling and neuronal migration factor in Kallmann Syndrome	1
NSUN3	NOP2/Sun RNA methyltransferase 3 in Combined oxidative phosphorylation deficiency 48	1
NSUN6	NOP2/Sun RNA methyltransferase 6 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
NT5C1A	5'-nucleotidase, cytosolic IA in Inclusion Body Myositis	1	function
NT5C2	in Complex Hereditary Spastic Paraplegia	1
NT5C3A	5'-nucleotidase, cytosolic IIIA in Pyrimidine 5-Nucleotidase Deficiency	1	function
NT5E	5'-nucleotidase ecto in Hereditary Arterial and Articular Multiple Calcification Syndrome	1	function
NTHL1	in NTHL1-deficiency Tumor Predisposition Syndrome	1
NTN1	netrin 1 in Familial Congenital Mirror Movements	1	function
NUBPL	NUBP iron-sulfur cluster assembly factor, mitochondrial	1	summary: verified function
NUDT15	nudix hydrolase 15 in Chemotherapy-Induced Neutropenia	1
NUMB	NUMB endocytic adaptor protein in TARP syndrome	1
NUP133	nucleoporin 133 in Galloway-Mowat syndrome	1
NUP155	nucleoporin 155 in Familial Atrial Fibrillation	1
NUP188	nucleoporin 188 in Sandestig-Stefanova Syndrome	1
NUP37	nucleoporin 37 in Autosomal Recessive Primary Microcephaly	1
NUP50	nucleoporin 50 in Amyotrophic Lateral Sclerosis	1
NUP62	nucleoporin 62 in NUP62-Related Infantile Bilateral Striatal Necrosis	1
NUTM1	NUT midline carcinoma family member 1 in B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality	1
NXN	nucleoredoxin in Robinow Syndrome, Autosomal Recessive 2	1
NYX	nyctalopin in Congenital Stationary Night Blindness	1
OAS1	2'-5'-oligoadenylate synthetase 1 in Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia	1
OAT	ornithine aminotransferase in ornithine aminotransferase deficiency	1	function
OBSL1	obscurin like cytoskeletal adaptor 1 in 3-M Syndrome	1
OCM	oncomodulin in Autosomal Dominant Nonsyndromic Hearing Loss 50	1
ODAD1	outer dynein arm docking complex subunit 1 in Primary_Ciliary_Dyskinesia	1
ODAD4	in Primary_Ciliary_Dyskinesia	1
ODAPH	odontogenesis associated phosphoprotein in Amelogenesis Imperfecta	1
OGFRL1	opioid growth factor receptor like 1 in Cherubism	1
OGT	in OGT-Congenital Disorder of Glycosylation	1
OLIG2	oligodendrocyte transcription factor 2 in Down_syndrome	1	function
OPA3	outer mitochondrial membrane lipid metabolism regulator OPA3 in Optic Atrophy 3	1
OPLAH	5-oxoprolinase, ATP-hydrolysing in 5-Oxoprolinase Deficiency	1	function
OPN1SW	in Tritan Color Vision Deficiency	1
ORC1	origin recognition complex subunit 1 in Meier-Gorlin syndrome	1
ORC4	origin recognition complex subunit 4 in Meier-Gorlin syndrome	1
ORC6	origin recognition complex subunit 6 in Meier-Gorlin syndrome	1
ORM1	orosomucoid 1 in Leptospirosis	1
ORMDL3	ORMDL sphingolipid biosynthesis regulator 3 in Asthma	1	function
OSBP2	in Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	1
OSBPL2	in Autosomal Dominant Nonsyndromic Hearing Loss 67	1
OSGEP	O-sialoglycoprotein endopeptidase in Galloway-Mowat syndrome	1
OSMR	oncostatin M receptor in Primary Cutaneous Amyloidosis	1
OSTM1	osteoclastogenesis associated transmembrane protein 1 in Osteopetrosis	1
OTOA	otoancorin in Autosomal Recessive Nonsyndromic Hearing Loss 22	1
OTOF	otoferlin in Auditory Neuropathy	1
OTOGL	otogelin like in Benign Paroxysmal Positional Vertigo	1
OTUD4	OTU deubiquitinase 4 in Cerebellar Ataxia-Hypogonadism Syndrome	1
OTUD6B	OTU deubiquitinase 6B in OTUD6B-Related Neurodevelopmental Disorder	1
OVOL2	ovo like zinc finger 2 in Posterior Polymorphous Corneal Dystrophy	1
P2RX2	purinergic receptor P2X 2 in Autosomal Dominant Nonsyndromic Hearing Loss 41	1
P2RX3	purinergic receptor P2X 3 in Autoimmune Pancreatitis	1
P2RY12	purinergic receptor P2Y12 in Platelet-type bleeding disorder 8	1
P3H1	prolyl 3-hydroxylase 1 in Osteogenesis Imperfecta Type VIII	1	function
P4HA2	prolyl 4-hydroxylase subunit alpha 2 in Giant Cell Arteritis	1	function
P4HB	prolyl 4-hydroxylase subunit beta in Cole-Carpenter syndrome	1	function
P4HTM	prolyl 4-hydroxylase, transmembrane in HIDEA_Syndrome	1
PABPN1	poly(A) binding protein nuclear 1 in Oculopharyngeal Muscular Dystrophy	1
PACS2	phosphofurin acidic cluster sorting protein 2 in PACS2-Related Developmental and Epileptic Encephalopathy	1
PADI2	peptidyl arginine deiminase 2 in Rheumatoid Arthritis	1
PADI4	peptidyl arginine deiminase 4 in Rheumatoid Arthritis	1
PADI6	peptidyl arginine deiminase 6 in Hydatidiform Mole	1
PAH	phenylalanine hydroxylase in Phenylketonuria	1
PAICS	phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase in PAICS Deficiency	1	function
PAK2	p21 (RAC1) activated kinase 2 in Chromosome 3q29 Microdeletion Syndrome	1
PAK3	p21 (RAC1) activated kinase 3 in Non-Syndromic X-Linked Intellectual Disability	1
PALB2	partner and localizer of BRCA2 in Fanconi_Anemia	1	function
PALMD	palmdelphin in Aortic Valve Stenosis	1
PAM16	presequence translocase associated motor 16 in Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type	1	function
PAPPA2	pappalysin 2 in Short Stature, Dauber-Argente Type	1
PAPSS2	3'-phosphoadenosine 5'-phosphosulfate synthase 2 in Brachyolmia	1	function
PARL	in 3-Methylglutaconic Aciduria Type VIIB	1
PARP9	poly(ADP-ribose) polymerase family member 9 in COVID-19	1
PARS2	prolyl-tRNA synthetase 2, mitochondrial in Genetic Developmental and Epileptic Encephalopathy	1
PAX1	paired box 1 in PAX1-Related Otofaciocervical Syndrome	1
PAX4	paired box 4 in Diabetes mellitus	1
PAX7	paired box 7 in Alveolar Rhabdomyosarcoma	1
PAX9	paired box 9 in Tooth Agenesis	1
PBK	PDZ binding kinase in Atopic Dermatitis	1
PC	pyruvate carboxylase	1	summary: verified function
PCCA	propionyl-CoA carboxylase subunit alpha in Propionic Acidemia	1	function
PCCB	propionyl-CoA carboxylase subunit beta in Propionic Acidemia	1	function
PCDH15	protocadherin related 15 in Usher Syndrome Type 1	1
PCDH9	protocadherin 9 in Postpartum Depression	1
PCDHGA10	protocadherin gamma subfamily A, 10 in Benign Paroxysmal Positional Vertigo	1
PCLO	piccolo presynaptic cytomatrix protein in Pontocerebellar Hypoplasia	1
PCNA	proliferating cell nuclear antigen in Ataxia-Telangiectasia-Like Disorder 2	1
PCNT	pericentrin in Microcephalic Osteodysplastic Primordial Dwarfism Type II	1
PCSK1	proprotein convertase subtilisin/kexin type 1	1	summary: verified
PCYT1A	phosphate cytidylyltransferase 1A, choline in Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	1	function
PDCD10	programmed cell death 10 in Cerebral Cavernous Malformation	1
PDCD1LG2	programmed cell death 1 ligand 2 in Classic Hodgkin Lymphoma	1
PDCD6IP	programmed cell death 6 interacting protein in Autosomal Recessive Primary Microcephaly	1	function
PDE11A	phosphodiesterase 11A in Primary Pigmented Nodular Adrenocortical Disease	1
PDE4A	phosphodiesterase 4A in AIP-related pituitary adenoma predisposition	1
PDE4D	phosphodiesterase 4D in Acrodysostosis	1
PDE6A	phosphodiesterase 6A in PDE6A-Related Retinopathy	1
PDE6B	phosphodiesterase 6B in Congenital Stationary Night Blindness	1
PDE6D	phosphodiesterase 6D in Joubert syndrome	1
PDE6H	phosphodiesterase 6H in Achromatopsia	1
PDHB	pyruvate dehydrogenase E1 subunit beta in Pyruvate Dehydrogenase Deficiency	1	function
PDHX	pyruvate dehydrogenase complex component X in Pyruvate Dehydrogenase Deficiency	1	function
PDK3	pyruvate dehydrogenase kinase 3 in Charcot-Marie-Tooth Disease Type X	1
PDLIM3	PDZ and LIM domain 3 in Hypertrophic Cardiomyopathy	1
PDP1	pyruvate dehydrogenase phosphatase catalytic subunit 1 in Pyruvate Dehydrogenase Deficiency	1
PDS5A	PDS5 cohesin associated factor A in WAPL-Related Developmental Disorder	1
PDS5B	PDS5 cohesin associated factor B in WAPL-Related Developmental Disorder	1
PDSS1	decaprenyl diphosphate synthase subunit 1	1	summary: verified function
PDSS2	decaprenyl diphosphate synthase subunit 2	1	summary: verified function
PDXK	pyridoxal kinase	1	summary: verified function
PDYN	prodynorphin in Spinocerebellar Ataxia Type 23	1
PDZD7	PDZ domain containing 7 in Usher Syndrome Type 2	1	function
PDZK1IP1	PDZK1 interacting protein 1 in Familial Renal Glucosuria	1
PEPD	peptidase D in Prolidase Deficiency	1
PERP	p53 apoptosis effector related to PMP22 in Erythrokeratodermia Variabilis	1
PET100	PET100 cytochrome c oxidase chaperone	1	summary: verified function
PET117	PET117 cytochrome c oxidase chaperone in PET117-Related COX Deficiency	1	function
PF4	platelet factor 4 in Heparin-Induced Thrombocytopenia	1
PFKM	phosphofructokinase, muscle in Glycogen Storage Disease Type VII	1	function
PGAM2	phosphoglycerate mutase 2 in Glycogen Storage Disease Due To Phosphoglycerate Mutase Deficiency	1	function
PGAP2	post-GPI attachment to proteins 2 in Mabry Syndrome	1	function
PGAP3	post-GPI attachment to proteins phospholipase 3 in Mabry Syndrome	1	function
PGF	placental growth factor in Preeclampsia	1
PGK1	phosphoglycerate kinase 1 in Phosphoglycerate Kinase 1 Deficiency	1	function
PGM1	phosphoglucomutase 1	1	summary: verified function
PGM2L1	phosphoglucomutase 2 like 1 in PGM2L1 Deficiency	1
PGM3	phosphoglucomutase 3 in Alzheimer Disease	1	function
PHACTR1	phosphatase and actin regulator 1 in Genetic Developmental and Epileptic Encephalopathy	1
PHC1	polyhomeotic homolog 1 in Autosomal Recessive Primary Microcephaly	1
PHEX	phosphate regulating endopeptidase X-linked in X-Linked Hypophosphatemia	1
PHF21A	PHD finger protein 21A in PHF21A Related Neurodevelopmental Disorder	1
PHF8	PHD finger protein 8 in Siderius Type X-Linked Intellectual Disability	1
PHIP	PHIP subunit of CUL4-Ring ligase complex in Chung-Jansen Syndrome	1
PHKA1	phosphorylase kinase regulatory subunit alpha 1 in Glycogen Storage Disease Type IX	1	function
PHKA2	phosphorylase kinase regulatory subunit alpha 2 in Glycogen Storage Disease Type IX	1	function
PHKB	phosphorylase kinase regulatory subunit beta in Glycogen Storage Disease Type IX	1	function
PHKG2	phosphorylase kinase catalytic subunit gamma 2 in Glycogen Storage Disease Type IX	1	function
PHLDB1	pleckstrin homology like domain family B member 1 in Osteogenesis Imperfecta Type XXIII	1
PHLDB2	pleckstrin homology like domain family B member 2 in 3-M Syndrome	1
PHOX2A	paired like homeobox 2A in Congenital Fibrosis of the Extraocular Muscles	1
PHYH	phytanoyl-CoA 2-hydroxylase in Adult Refsum Disease	1
PI4KA	phosphatidylinositol 4-kinase alpha in Perisylvian Polymicrogyria with Cerebellar Hypoplasia and Arthrogryposis	1
PIBF1	progesterone immunomodulatory binding factor 1 in Joubert syndrome	1
PIGB	phosphatidylinositol glycan anchor biosynthesis class B in Developmental And Epileptic Encephalopathy 80	1	function
PIGG	phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) in Wolf-Hirschhorn_Syndrome	1	function
PIGL	phosphatidylinositol glycan anchor biosynthesis class L in CHIME_syndrome	1	function
PIGN	phosphatidylinositol glycan anchor biosynthesis class N in Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	1	function
PIGO	phosphatidylinositol glycan anchor biosynthesis class O in Mabry Syndrome	1	function
PIGP	phosphatidylinositol glycan anchor biosynthesis class P in Developmental and Epileptic Encephalopathy 55	1	function
PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q in Developmental And Epileptic Encephalopathy 77	1	function
PIGR	in Ulcerative Colitis	1
PIGT	phosphatidylinositol glycan anchor biosynthesis class T in Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	1	function
PIGV	phosphatidylinositol glycan anchor biosynthesis class V in Mabry Syndrome	1	function
PIGW	phosphatidylinositol glycan anchor biosynthesis class W in Mabry Syndrome	1	function
PIGY	phosphatidylinositol glycan anchor biosynthesis class Y in Mabry Syndrome	1	function
PIK3C2A	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha in Oculocerebrodental Syndrome	1
PIK3C3	phosphatidylinositol 3-kinase catalytic subunit type 3 in Ebola Virus Disease (EVD)	1	function
PIK3CG	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma in Immunodeficiency 97 With Autoinflammation	1
PIM1	Pim-1 proto-oncogene, serine/threonine kinase in Primary Central Nervous System Lymphoma	1
PINK1	PTEN induced kinase 1 in Parkinson's Disease	1
PISD	phosphatidylserine decarboxylase in Liberfarb syndrome	1
PITPNM1	phosphatidylinositol transfer protein membrane associated 1 in Autosomal Dominant Nonsyndromic Hearing Loss 50	1
PKHD1L1	PKHD1 like 1 in Autosomal Recessive Nonsyndromic Hearing Loss 124	1
PKLR	pyruvate kinase L/R in Pyruvate Kinase Deficiency	1	function
PKP1	plakophilin 1 in Epidermolysis Bullosa Simplex	1
PLA2G2A	phospholipase A2 group IIA in Multisystem Inflammatory Syndrome in Children (MIS-C)	1
PLA2G4A	in Cytosolic Phospholipase A2 Alpha Deficiency	1
PLAAT3	phospholipase A and acyltransferase 3 in Familial Partial Lipodystrophy	1
PLAG1	PLAG1 zinc finger in Silver-Russell Syndrome	1
PLAGL1	PLAG1 like zinc finger 1 in AIP-related pituitary adenoma predisposition	1
PLAU	plasminogen activator, urokinase in Quebec Platelet Disorder	1
PLCB3	phospholipase C beta 3 in Spondylometaphyseal Dysplasia with Corneal Dystrophy	1
PLCE1	in Nephrotic Syndrome Type 21	1
PLCG1	phospholipase C gamma 1 in Sezary Syndrome	1
PLD1	phospholipase D1 in Congenital Heart Disease	1
PLD3	in Spinocerebellar Ataxia 46	1
PLEC	plectin in Epidermolysis Bullosa Simplex	1
PLEKHM1	pleckstrin homology and RUN domain containing M1 in Osteopetrosis	1
PLEKHM2	pleckstrin homology and RUN domain containing M2 in Dilated Cardiomyopathy	1
PLIN1	perilipin 1 in Familial Partial Lipodystrophy	1
PLIN2	perilipin 2 in Tuberculosis	1
PLOD3	procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 in Bone Fragility With Contractures Arterial Rupture And Deafness	1
PLS1	plastin 1 in Hearing Loss Autosomal Dominant 76	1
PLS3	plastin 3 in PLS3-Related X-Linked Osteoporosis	1
PMEL	premelanosome protein in Ocular Melanoma	1
PML	PML nuclear body scaffold in Acute Promyelocytic Leukemia, PML-RARA	1
PMM2	phosphomannomutase 2 in PMM2-Congenital Disorder of Glycosylation	1	function
PMP2	peripheral myelin protein 2 in Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	1
PMPCB	peptidase, mitochondrial processing subunit beta in Multiple Mitochondrial Dysfunctions Syndrome 6	1	function
PMS1	PMS1 homolog 1, mismatch repair system component in Huntington Disease	1
PMVK	phosphomevalonate kinase in Porokeratosis	1	function
PNKD	PNKD metallo-beta-lactamase domain containing in Paroxysmal Dyskinesia	1
PNP	purine nucleoside phosphorylase	1	summary: verified function
PNPLA1	patatin like domain 1, omega-hydroxyceramide transacylase in Autosomal Recessive Congenital Ichthyosis	1
PNPO	pyridoxamine 5'-phosphate oxidase	1	summary: verified function
POC1B	in Cone-rod dystrophy 20	1
POFUT1	protein O-fucosyltransferase 1 in Dowling-Degos Disease	1	function
POGZ	pogo transposable element derived with ZNF domain in White-Sutton Syndrome	1
POLD1	DNA polymerase delta 1, catalytic subunit in Immunodeficiency 120	1
POLD2	in POLD2-related Combined Immunodeficiency	1
POLD3	DNA polymerase delta 3, accessory subunit in Immunodeficiency 122	1
POLG2	DNA polymerase gamma 2, accessory subunit in Autosomal Dominant Progressive External Ophthalmoplegia	1
POLH	DNA polymerase eta in Xeroderma Pigmentosum	1
POLR1B	RNA polymerase I subunit B in Treacher Collins Syndrome	1
POLR1D	RNA polymerase I and III subunit D in Treacher Collins Syndrome	1
POLR3C	RNA polymerase III subunit C in Immunodeficiency 101 (Varicella Zoster Virus-Specific)	1
POLR3E	RNA polymerase III subunit E in Immunodeficiency 101 (Varicella Zoster Virus-Specific)	1
POLR3F	RNA polymerase III subunit F in Immunodeficiency 101 (Varicella Zoster Virus-Specific)	1
POLR3GL	RNA polymerase III subunit GL in Wiedemann-Rautenstrauch Syndrome	1
POLR3K	RNA polymerase III subunit K in POLR-Related Leukodystrophy	1
POMGNT2	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) in Dystroglycanopathy	1
PON1	paraoxonase 1 in Organophosphate Poisoning	1
POP1	POP1 ribonuclease P/MRP subunit in Anauxetic dysplasia	1
POPDC1	popeye domain cAMP effector 1 in Autosomal Recessive Limb-Girdle Muscular Dystrophy	1
POPDC3	popeye domain cAMP effector 3 in Autosomal Recessive Limb-Girdle Muscular Dystrophy	1
PORCN	porcupine O-acyltransferase in Focal Dermal Hypoplasia	1
POU3F2	POU class 3 homeobox 2 in 6q16 Deletion Syndrome	1
POU5F1	POU class 5 homeobox 1 in Embryonal Carcinoma	1
PPFIBP1	in Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities	1
PPIA	peptidylprolyl isomerase A in Pancreatic Ductal Adenocarcinoma	1
PPIB	peptidylprolyl isomerase B in Osteogenesis Imperfecta Type IX	1	function
PPIL1	peptidylprolyl isomerase like 1 in Pontocerebellar Hypoplasia	1
PPIP5K2	diphosphoinositol pentakisphosphate kinase 2 in Hearing Loss Autosomal Recessive 100	1
PPM1K	protein phosphatase, Mg2+/Mn2+ dependent 1K in Maple Syrup Urine Disease	1
PPOX	protoporphyrinogen oxidase in Inherited Porphyria	1	function
PPP1CB	protein phosphatase 1 catalytic subunit beta in Noonan Syndrome-like Disorder with Loose Anagen Hair	1
PPP1R12A	protein phosphatase 1 regulatory subunit 12A in Persistent Mullerian Duct Syndrome	1
PPP1R15B	protein phosphatase 1 regulatory subunit 15B in Microcephaly, Short Stature, and Impaired Glucose Metabolism 2	1
PPP2CA	protein phosphatase 2 catalytic subunit alpha in Houge-Janssens Syndrome	1	function
PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta in Autosomal Dominant Cerebellar Ataxia Type I	1
PPP2R3C	protein phosphatase 2 regulatory subunit B''gamma in PPP2R3C-Related Gonadal Dysgenesis Syndrome	1
PPP2R5C	protein phosphatase 2 regulatory subunit B'gamma in Houge-Janssens Syndrome	1
PPP2R5D	protein phosphatase 2 regulatory subunit B'delta in Houge-Janssens Syndrome	1
PPP3CA	protein phosphatase 3 catalytic subunit alpha in CN-Related Developmental and Epileptic Encephalopathy	1	function
PQBP1	polyglutamine binding protein 1 in Renpenning syndrome	1
PRDM12	PR/SET domain 12 in Congenital Insensitivity to Pain	1
PRDM15	PR/SET domain 15 in Galloway-Mowat syndrome	1
PRDM5	PR/SET domain 5 in Brittle Cornea Syndrome	1
PRDM8	PR/SET domain 8 in Autosomal Dominant Cerebellar Ataxia Deafness and Narcolepsy	1
PRIMA1	proline rich membrane anchor 1 in Epilepsy	1
PRKACG	protein kinase cAMP-activated catalytic subunit gamma in Platelet-type Bleeding Disorder 19	1
PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2 in PRKAG2 Cardiac Syndrome	1
PRKCSH	PRKCSH beta subunit of glucosidase II in Autosomal dominant polycystic liver disease	1
PRKD1	protein kinase D1 in Salivary Gland Polymorphous Adenocarcinoma	1
PRKD2	protein kinase D2 in Salivary Gland Polymorphous Adenocarcinoma	1
PRKD3	protein kinase D3 in Salivary Gland Polymorphous Adenocarcinoma	1
PRKG1	protein kinase cGMP-dependent 1 in Familial Thoracic Aortic Aneurysm and Aortic Dissection	1
PRKG2	protein kinase cGMP-dependent 2 in Acromesomelic Dysplasia PRKG2 Type	1
PRMT7	protein arginine methyltransferase 7 in PRMT7-Related Short Stature-Brachydactyly Syndrome	1
PROK2	prokineticin 2 in Kallmann Syndrome	1
PROKR1	prokineticin receptor 1 in Ectopic Pregnancy	1
PROM1	prominin 1 in Stargardt Disease	1
PRORP	protein only RNase P catalytic subunit in Perrault Syndrome	1
PRPF31	pre-mRNA processing factor 31 in PRPF31-Related Retinopathy	1
PRPH	peripherin in Amyotrophic Lateral Sclerosis	1
PRR12	proline rich 12 in PRR12-Related Neuroocular Syndrome	1
PRR15	proline rich 15 in Renal Cell Carcinoma	1
PRRX2	paired related homeobox 2 in Aneurysm-Osteoarthritis Syndrome	1
PRSS12	serine protease 12 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
PRSS2	serine protease 2 in Hereditary Pancreatitis	1
PRSS56	serine protease 56 in Isolated Anophthalmia-Microphthalmia Syndrome	1
PRX	periaxin in Charcot-Marie-Tooth Disease Type 4	1
PSG2	pregnancy specific beta-1-glycoprotein 2 in Preeclampsia	1
PSMA3	proteasome 20S subunit alpha 3 in Proteasome-Associated Autoinflammatory Syndrome	1
PSMB1	proteasome 20S subunit beta 1 in Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Absent Language	1
PSMB10	proteasome 20S subunit beta 10 in Proteasome-Associated Autoinflammatory Syndrome	1
PSMB4	proteasome 20S subunit beta 4 in Proteasome-Associated Autoinflammatory Syndrome	1
PSMB8	proteasome 20S subunit beta 8 in Proteasome-Associated Autoinflammatory Syndrome	1
PSMB9	proteasome 20S subunit beta 9 in Proteasome-Associated Autoinflammatory Syndrome	1
PSMC1	proteasome 26S subunit, ATPase 1 in Neurodevelopmental Disorder with Poor Growth, Spastic Tetraplegia, and Hearing Loss	1
PSMC3IP	PSMC3 interacting protein in 46,XX Gonadal Dysgenesis	1
PSMD12	proteasome 26S subunit, non-ATPase 12 in Stankiewicz-Isidor syndrome	1
PSMG2	proteasome assembly chaperone 2 in Proteasome-Associated Autoinflammatory Syndrome	1
PTBP1	polypyrimidine tract binding protein 1 in Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy	1
PTCD3	pentatricopeptide repeat domain 3 in Combined Oxidative Phosphorylation Deficiency 51	1
PTCH2	patched 2 in Gorlin Syndrome	1
PTDSS1	phosphatidylserine synthase 1 in Lenz-Majewski hyperostotic dwarfism	1
PTGDS	prostaglandin D2 synthase in Androgenetic Alopecia	1
PTGER3	prostaglandin E receptor 3 in Stevens-Johnson Syndrome	1
PTGS1	prostaglandin-endoperoxide synthase 1 in Platelet-type Bleeding Disorder 12	1
PTHLH	parathyroid hormone like hormone in Brachydactyly Type E1	1
PTK2	protein tyrosine kinase 2 in Pancreatic Ductal Adenocarcinoma	1
PTPA	protein phosphatase 2 phosphatase activator in Parkinson's Disease	1
PTPRC	protein tyrosine phosphatase receptor type C in Immunodeficiency 105	1
PTPRQ	protein tyrosine phosphatase receptor type Q in Autosomal Dominant Nonsyndromic Hearing Loss 50	1
PTRH2	peptidyl-tRNA hydrolase 2 in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease	1
PTRHD1	peptidyl-tRNA hydrolase domain containing 1 in Neurodevelopmental Disorder with Early-Onset Parkinsonism and Behavioral Abnormalities	1
PUM1	pumilio RNA binding family member 1 in PUM1-Associated Developmental Disability, Ataxia, and Seizure Syndrome	1
PUS1	pseudouridine synthase 1 in Myopathy, Lactic Acidosis, and Sideroblastic Anemia	1
PUS3	pseudouridine synthase 3 in PUS3-Related Neurodevelopmental Disorder	1	function
PUS7	pseudouridine synthase 7 in PUS7-Related Neurodevelopmental Disorder	1
PVR	PVR cell adhesion molecule in Paralytic Poliomyelitis	1
PVT1	Pvt1 oncogene in Selective IgA Deficiency	1
PYCR2	pyrroline-5-carboxylate reductase 2 in Hypomyelinating Leukodystrophy 10	1	function
PYGL	glycogen phosphorylase L in Glycogen Storage Disease Type VI	1	function
PYGM	glycogen phosphorylase, muscle associated in Glycogen Storage Disease Type V	1	function
PYROXD1	pyridine nucleotide-disulphide oxidoreductase domain 1 in Myofibrillar Myopathy	1
RAB18	RAB18, member RAS oncogene family in Warburg micro syndrome	1
RAB23	RAB23, member RAS oncogene family in RAB23-related Carpenter Syndrome	1
RAB33B	RAB33B, member RAS oncogene family in RAB33B-Related Smith-McCort Dysplasia 2	1
RAB34	RAB34, member RAS oncogene family in Orofaciodigital Syndrome	1
RAB39B	RAB39B, member RAS oncogene family in Non-Syndromic X-Linked Intellectual Disability	1
RAB3A	RAB3A, member RAS oncogene family in Autosomal Dominant Cerebellar Ataxia	1
RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1 in Warburg micro syndrome	1
RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2 in Warburg micro syndrome	1
RAB5C	RAB5C, member RAS oncogene family in RAB5C-Related Neurodevelopmental Disorder with Macrocephaly	1
RAB7A	RAB7A, member RAS oncogene family in Charcot-Marie-Tooth Disease Type 2	1	function
RAD50	RAD50 double strand break repair protein in Nijmegen Breakage Syndrome-like Disorder	1
RAD51C	RAD51 paralog C in Fanconi_Anemia	1	function
RAD9A	RAD9 checkpoint clamp component A in Aortic Valve Stenosis	1
RAG2	recombination activating 2 in Severe Combined Immunodeficiency	1
RANBP1	RAN binding protein 1 in 22q11.2 Deletion Syndrome	1
RANBP2	in Familial Acute Necrotizing Encephalopathy	1
RAP1B	RAP1B, member of RAS oncogene family in Thrombocytopenia 11 with Multiple Congenital Anomalies and Dysmorphic Facies	1
RAP1GAP	in Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	1
RAPGEF2	Rap guanine nucleotide exchange factor 2 in Pentanucleotide Repeat Familial Adult Myoclonus Epilepsy	1
RAPSN	receptor associated protein of the synapse in Congenital Myasthenic Syndrome	1
RARA	retinoic acid receptor alpha in Acute Promyelocytic Leukemia, PML-RARA	1	function
RARB	retinoic acid receptor beta in RARB-related syndromic microphthalmia	1
RARG	retinoic acid receptor gamma in Anthracycline-Induced Cardiomyopathy	1
RARS2	arginyl-tRNA synthetase 2, mitochondrial in Pontocerebellar Hypoplasia	1
RASA2	RAS p21 protein activator 2 in Noonan Syndrome	1	function
RASGRP1	RAS guanyl releasing protein 1 in Immunodeficiency 64	1
RASGRP2	RAS guanyl releasing protein 2 in Platelet-type bleeding disorder 18	1
RAVER2	ribonucleoprotein, PTB binding 2 in Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy	1
RAX	retina and anterior neural fold homeobox in Isolated Anophthalmia-Microphthalmia Syndrome	1
RAX2	retina and anterior neural fold homeobox 2 in Age-Related Macular Degeneration	1
RBBP8	RB binding protein 8, endonuclease in Seckel syndrome	1
RBFOX1	RNA binding fox-1 homolog 1 in Spinocerebellar Ataxia Type 1	1
RBM10	RNA binding motif protein 10 in TARP syndrome	1
RBM15	RNA binding motif protein 15 in Acute Megakaryoblastic Leukemia	1
RBPJ	recombination signal binding protein for immunoglobulin kappa J region in Adams-Oliver Syndrome	1
RCBTB1	RCC1 and BTB domain containing protein 1 in RCBTB1-Related Retinopathy	1
RDH12	retinol dehydrogenase 12 in Leber Congenital Amaurosis 13	1	function
RDH5	retinol dehydrogenase 5 in RDH5-Related Retinopathy	1	function
RDH8	retinol dehydrogenase 8 in Stargardt Disease	1	function
REC114	REC114 meiotic recombination protein in Hydatidiform Mole	1
RECQL	RecQ like helicase in RECON Progeroid Syndrome	1
REEP2	receptor accessory protein 2 in Hereditary Spastic Paraplegia	1
RELA	RELA proto-oncogene, NF-kB subunit in Ependymoma	1
RELB	in Immunodeficiency 53	1
RELT	RELT TNF receptor in Amelogenesis Imperfecta	1
RETREG1	reticulophagy regulator 1 in Hereditary Sensory and Autonomic Neuropathy Type 2	1
RFC1	replication factor C subunit 1 in CANVAS	1
RFT1	RFT1 glycolipid translocator homolog	1	summary: verified function
RFWD3	ring finger and WD repeat domain 3 in Fanconi_Anemia	1	function
RFX5	regulatory factor X5 in MHC class II deficiency	1
RFXANK	regulatory factor X associated ankyrin containing protein in MHC class II deficiency	1	function
RFXAP	regulatory factor X associated protein in MHC class II deficiency	1	function
RGS14	regulator of G protein signaling 14 in CKD-Mineral Bone Disorder	1
RGS4	regulator of G protein signaling 4 in Fibromyalgia	1
RILPL1	Rab interacting lysosomal protein like 1 in Oculopharyngodistal Myopathy	1
RIPOR2	RHO family interacting cell polarization regulator 2 in Autosomal Recessive Nonsyndromic Hearing Loss 104	1
RIT1	Ras like without CAAX 1 in Noonan Syndrome	1
RLBP1	retinaldehyde binding protein 1 in RLBP1-Related Retinopathy	1	function
RLIM	ring finger protein, LIM domain interacting in Tonne-Kalscheuer Syndrome	1
RMND1	required for meiotic nuclear division 1 homolog in Perrault Syndrome	1
RMP24	ribonuclease MRP subunit p24 in Hepatocellular Carcinoma	1	function
RMP64	ribonuclease MRP subunit p64 in Anauxetic dysplasia	1
RNASEH1	ribonuclease H1 in RNASEH1-Related Progressive External Ophthalmoplegia	1
RNASEH2A	ribonuclease H2 subunit A in Aicardi-Goutieres Syndrome	1
RNASEH2B	ribonuclease H2 subunit B in Aicardi-Goutieres Syndrome	1
RNASEH2C	ribonuclease H2 subunit C in Aicardi-Goutieres Syndrome	1
RNASEL	ribonuclease L in Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia	1
RNASET2	ribonuclease T2 in Cystic Leukoencephalopathy Without Megalencephaly	1
RNF113A	ring finger protein 113A in Trichothiodystrophy	1
RNF13	ring finger protein 13 in Genetic Developmental and Epileptic Encephalopathy	1
RNF135	ring finger protein 135 in NF1 Microdeletion Syndrome	1
RNF216	ring finger protein 216 in Cerebellar Ataxia-Hypogonadism Syndrome	1
RNF220	ring finger protein 220 in Hypomyelinating Leukodystrophy 23	1
RNF31	ring finger protein 31 in HOIP Deficiency	1
RNU12	RNA, U12 small nuclear in RNU12-related minor spliceopathy	1
RNU2-2	RNA, U2 small nuclear 2 in Genetic Developmental and Epileptic Encephalopathy	1
RNU4-2	RNA, U4 small nuclear 2 in ReNU Syndrome	1
RNU7-1	RNA, U7 small nuclear 1 in Aicardi-Goutieres Syndrome	1
RO60	Ro60, Y RNA binding protein in Neonatal Lupus Erythematosus	1
ROBO1	roundabout guidance receptor 1 in Neurooculorenal Syndrome	1
ROBO2	roundabout guidance receptor 2 in Familial Vesicoureteral Reflux	1
ROBO4	in Aortic Valve Disease 3	1
ROCK1	Rho associated coiled-coil containing protein kinase 1 in Benign Prostatic Hyperplasia	1
ROCK2	Rho associated coiled-coil containing protein kinase 2 in Benign Prostatic Hyperplasia	1
ROM1	retinal outer segment membrane protein 1 in PRPH2-Related Retinopathy	1
ROR1	ROR family WNT receptor 1 in Hearing Loss Autosomal Recessive 108	1	function
RORC	RAR related orphan receptor C in Chronic Mucocutaneous Candidiasis	1
RP1	RP1 axonemal microtubule associated in RP1-Related Retinopathy	1
RP2	RP2 activator of ARL3 GTPase in RP2-Related Retinopathy	1
RPA1	replication protein A1 in Dyskeratosis Congenita	1
RPL10	ribosomal protein L10 in Intellectual Disability X-linked Syndromic 35	1
RPL11	ribosomal protein L11 in Diamond-Blackfan Anemia	1
RPL15	ribosomal protein L15 in Diamond-Blackfan Anemia	1
RPL17	ribosomal protein L17 in Diamond-Blackfan Anemia	1
RPL26	ribosomal protein L26 in Diamond-Blackfan Anemia	1
RPL35A	ribosomal protein L35a in Diamond-Blackfan Anemia	1
RPL5	ribosomal protein L5 in Diamond-Blackfan Anemia	1
RPP21	ribonuclease P subunit p21 in Hepatocellular Carcinoma	1
RPP40	ribonuclease P/MRP subunit p40 in Hepatocellular Carcinoma	1
RPS10	ribosomal protein S10 in Diamond-Blackfan Anemia	1
RPS17	ribosomal protein S17 in Diamond-Blackfan Anemia	1
RPS20	ribosomal protein S20 in Lynch Syndrome	1
RPS24	ribosomal protein S24 in Diamond-Blackfan Anemia	1
RPS26	ribosomal protein S26 in Diamond-Blackfan Anemia	1
RPS28	ribosomal protein S28 in Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis	1
RPS29	ribosomal protein S29 in Diamond-Blackfan Anemia	1
RPS6KA6	ribosomal protein S6 kinase A6 in Choroideremia-Deafness-Obesity Syndrome	1
RPS6KB1	ribosomal protein S6 kinase B1 in Hypertrophic Cardiomyopathy	1
RPS7	ribosomal protein S7 in Diamond-Blackfan Anemia	1
RRAGC	in Long-Olsen-Distelmaier Syndrome	1
RRAS	RAS related in Noonan Syndrome	1
RRAS2	RAS related 2 in Noonan Syndrome	1
RREB1	ras responsive element binding protein 1 in Ewing Sarcoma	1
RRP12	ribosomal RNA processing 12 homolog in Bilateral Striopallidodentate Calcinosis	1
RRP7A	ribosomal RNA processing 7 homolog A in Autosomal Recessive Primary Microcephaly	1
RS1	retinoschisin 1 in X-linked Retinoschisis	1
RSPH1	radial spoke head component 1 in Primary_Ciliary_Dyskinesia	1
RSPH4A	radial spoke head component 4A in Primary_Ciliary_Dyskinesia	1
RSPH9	radial spoke head component 9 in Primary_Ciliary_Dyskinesia	1
RSPO2	in Tetraamelia Syndrome 2	1
RSPRY1	ring finger and SPRY domain containing 1 in Spondyloepimetaphyseal Dysplasia Faden-Alkuraya Type	1
RSRC1	arginine and serine rich coiled-coil 1 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
RTN4IP1	reticulon 4 interacting protein 1 in RTN4IP1-Related Optic Atrophy	1
RTTN	rotatin in Seckel syndrome	1
RUBCN	rubicon autophagy regulator in Autosomal Recessive Spinocerebellar Ataxia 15	1	function
RUSC2	RUN and SH3 domain containing 2 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
RXYLT1	ribitol xylosyltransferase 1 in Dystroglycanopathy	1
SACK1H	scaffolding CK1 anchoring protein H in Amelogenesis Imperfecta	1
SAE1	SUMO1 activating enzyme subunit 1 in Dermatomyositis	1
SAG	S-antigen visual arrestin in Congenital Stationary Night Blindness	1
SALL1	spalt like transcription factor 1 in Townes-Brocks Syndrome 1	1
SAMD12	sterile alpha motif domain containing 12 in Pentanucleotide Repeat Familial Adult Myoclonus Epilepsy	1
SAMD9L	in SAMD9L-Related Spectrum and Myeloid Neoplasm Risk	1
SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 in Aicardi-Goutieres Syndrome	1
SAR1B	secretion associated Ras related GTPase 1B	1	summary: verified
SARM1	sterile alpha and TIR motif containing 1 in Leber Congenital Amaurosis 9	1
SARS1	seryl-tRNA synthetase 1 in SARS1-Related Neurodevelopmental Disorder	1
SASH3	SAM and SH3 domain containing 3 in Immunodeficiency 102	1
SASS6	SAS-6 centriolar assembly protein in Autosomal Recessive Primary Microcephaly	1
SAT1	spermidine/spermine N1-acetyltransferase 1 in Keratosis follicularis spinulosa decalvans	1	function
SBF2	SET binding factor 2 in Charcot-Marie-Tooth Disease Type 4	1
SC5D	sterol-C5-desaturase in Lathosterolosis	1	function
SCAPER	S-phase cyclin A associated protein in the ER in Bardet-Biedl syndrome	1
SCARB2	scavenger receptor class B member 2 in Action Myoclonus-Renal Failure Syndrome	1
SCN10A	sodium voltage-gated channel alpha subunit 10 in erythromelalgia	1
SCN2B	sodium voltage-gated channel beta subunit 2 in Familial Atrial Fibrillation	1
SCN3A	sodium voltage-gated channel alpha subunit 3 in Genetic Developmental and Epileptic Encephalopathy	1
SCN3B	sodium voltage-gated channel beta subunit 3 in Brugada syndrome	1
SCN4B	sodium voltage-gated channel beta subunit 4 in Familial Long QT Syndrome	1
SCNM1	sodium channel modifier 1 in Orofaciodigital Syndrome	1
SCNN1G	sodium channel epithelial 1 subunit gamma in Liddle syndrome	1
SCO1	synthesis of cytochrome C oxidase 1	1	summary: verified function
SCO2	synthesis of cytochrome C oxidase 2 in SCO2-Related Fatal Infantile Cardioencephalomyopathy	1	function
SCP2	sterol carrier protein 2	1	summary: verified function
SCYL1	SCY1 like pseudokinase 1 in CALFAN Syndrome	1
SDHAF4	succinate dehydrogenase complex assembly factor 4 in Dilated Cardiomyopathy 1GG	1
SDR9C7	short chain dehydrogenase/reductase family 9C member 7 in Autosomal Recessive Congenital Ichthyosis	1
SEC24D	SEC24 homolog D, COPII component in Cole-Carpenter syndrome	1
SEC61A1	SEC61 translocon subunit alpha 1 in Common Variable Immunodeficiency	1
SEC61B	SEC61 translocon subunit beta in Autosomal dominant polycystic liver disease	1
SEC63	SEC63 protein translocation regulator in Autosomal dominant polycystic liver disease	1	function
SECISBP2	SECIS binding protein 2	1	summary: verified function
SEL1L	SEL1L adaptor subunit of SYVN1 ubiquitin ligase in NGLY1-congenital disorder of deglycosylation	1
SELENBP1	selenium binding protein 1 in Inborn Disorder of Methionine Cycle and Sulfur Amino Acid Metabolism	1
SELENOF	selenoprotein F in Kashin-Beck Disease	1
SELENOI	selenoprotein I in Spastic Paraplegia 81	1	function
SELENON	selenoprotein N in Multiminicore Disease	1
SELENOS	selenoprotein S in Kashin-Beck Disease	1
SEMA3A	semaphorin 3A in Kallmann Syndrome	1
SEMA4D	semaphorin 4D in Bone Giant Cell Tumor	1
SEMA5A	semaphorin 5A in Cri-du-Chat Syndrome	1
SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	1	summary: verified function
SERAC1	serine active site containing 1 in 3-methylglutaconic_Aciduria_With_Deafness_Encephalopathy_And_Leigh-like_Syndrome	1
SERPINB8	serpin family B member 8 in Peeling Skin Syndrome	1
SERPINE1	serpin family E member 1 in Livedoid vasculopathy	1
SERPINF2	in Alpha-2-Plasmin Inhibitor Deficiency	1
SERPING1	serpin family G member 1 in Hereditary Angioedema	1
SET	SET nuclear proto-oncogene in Autosomal Dominant Non-Syndromic Intellectual Disability	1
SETD1B	SET domain containing 1B, histone lysine methyltransferase in SETD1B-Related Neurodevelopmental Disorder	1
SF3B2	splicing factor 3b subunit 2 in Craniofacial Microsomia	1
SF3B4	splicing factor 3b subunit 4 in Nager Acrofacial Dysostosis	1
SFMBT1	Scm like with four mbt domains 1 in Normal Pressure Hydrocephalus	1
SFRP4	secreted frizzled related protein 4 in Dupuytren Contracture	1
SFTPA1	surfactant protein A1 in Idiopathic Pulmonary Fibrosis	1
SFTPA2	surfactant protein A2 in Idiopathic Pulmonary Fibrosis	1
SFTPC	surfactant protein C in Idiopathic Pulmonary Fibrosis	1
SGMS2	sphingomyelin synthase 2 in Calvarial Doughnut Lesions-Bone Fragility Syndrome	1	function
SGPL1	sphingosine-1-phosphate lyase 1	1	summary: verified function
SH2B1	SH2B adaptor protein 1 in Obesity Due to MC4R Pathway Disruption	1
SH3BP2	SH3 domain binding protein 2 in Cherubism	1
SH3KBP1	SH3 domain containing kinase binding protein 1 in Immunodeficiency 61	1
SH3PXD2B	SH3 and PX domains 2B in Frank-Ter Haar Syndrome	1
SHOC2	SHOC2 leucine rich repeat scaffold protein in Noonan Syndrome-like Disorder with Loose Anagen Hair	1
SHPK	sedoheptulokinase in Isolated Sedoheptulokinase Deficiency	1
SI	sucrase-isomaltase in Congenital Sucrase-Isomaltase Deficiency	1
SIGIRR	single Ig and TIR domain containing in Necrotizing Enterocolitis	1
SIK3	SIK family kinase 3 in Spondyloepimetaphyseal Dysplasia Krakow Type	1
SIL1	SIL1 nucleotide exchange factor in Marinesco-Sjogren Syndrome	1
SIX2	SIX homeobox 2 in Wilms Tumor	1
SIX4	SIX homeobox 4 in Frias syndrome	1
SIX5	SIX homeobox 5 in EYA1-Related Branchiootorenal Spectrum Disorder	1
SIX6	SIX homeobox 6 in Frias syndrome	1
SKI	SKI proto-oncogene in Shprintzen-Goldberg Syndrome	1
SKIC2	SKI2 subunit of superkiller complex in Trichohepatoenteric Syndrome	1
SKIC3	SKI3 subunit of superkiller complex in Trichohepatoenteric Syndrome	1
SLC10A7	solute carrier family 10 member 7	1	summary: verified
SLC12A1	solute carrier family 12 member 1 in Bartter syndrome	1
SLC12A3	solute carrier family 12 member 3 in Gitelman syndrome	1
SLC12A5	solute carrier family 12 member 5 in SLC12A5-Related Developmental and Epileptic Encephalopathy	1
SLC13A2	solute carrier family 13 member 2 in Diethylene Glycol Poisoning	1
SLC16A2	solute carrier family 16 member 2 in Allan-Herndon-Dudley Syndrome	1
SLC17A8	solute carrier family 17 member 8 in Autosomal Dominant Nonsyndromic Hearing Loss 25	1
SLC18A3	solute carrier family 18 member A3 in Congenital Myasthenic Syndrome	1
SLC19A1	solute carrier family 19 member 1 in Methotrexate Toxicity	1
SLC19A3	solute carrier family 19 member 3 in Biotin-Thiamine-Responsive Basal Ganglia Disease	1	function
SLC1A1	solute carrier family 1 member 1 in Obsessive-Compulsive Disorder	1
SLC1A3	solute carrier family 1 member 3 in Manganism	1
SLC1A5	solute carrier family 1 member 5 in Ewing Sarcoma	1
SLC20A2	solute carrier family 20 member 2 in Bilateral Striopallidodentate Calcinosis	1
SLC22A12	solute carrier family 22 member 12 in Gout	1
SLC24A1	solute carrier family 24 member 1 in Congenital Stationary Night Blindness	1
SLC24A4	solute carrier family 24 member 4 in Amelogenesis Imperfecta	1
SLC24A5	solute carrier family 24 member 5 in Oculocutaneous Albinism	1
SLC25A1	solute carrier family 25 member 1 in Congenital Myasthenic Syndrome	1	function
SLC25A12	solute carrier family 25 member 12 in SLC25A12-Related Developmental and Epileptic Encephalopathy	1	function
SLC25A15	solute carrier family 25 member 15 in Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	1	function
SLC25A20	solute carrier family 25 member 20 in Carnitine-acylcarnitine Translocase Deficiency	1	function
SLC25A22	solute carrier family 25 member 22 in Early-Infantile Developmental and Epileptic Encephalopathy	1	function
SLC25A24	solute carrier family 25 member 24 in Fontaine Progeroid Syndrome	1	function
SLC25A26	solute carrier family 25 member 26 in Combined Oxidative Phosphorylation Deficiency 28	1	function
SLC25A3	solute carrier family 25 member 3 in Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	1	function
SLC25A4	solute carrier family 25 member 4 in Autosomal Dominant Progressive External Ophthalmoplegia	1	function
SLC25A46	solute carrier family 25 member 46 in Pontocerebellar Hypoplasia	1	function
SLC26A3	solute carrier family 26 member 3 in Congenital Chloride Diarrhea	1
SLC26A5	solute carrier family 26 member 5 in Autosomal Dominant Nonsyndromic Hearing Loss 50	1
SLC26A6	solute carrier family 26 member 6	1	summary: verified
SLC27A1	solute carrier family 27 member 1 in Type 2 Diabetes Mellitus	1
SLC27A2	solute carrier family 27 member 2 in Metabolic Dysfunction-Associated Steatotic Liver Disease	1
SLC27A5	solute carrier family 27 member 5 in Metabolic Dysfunction-Associated Steatotic Liver Disease	1	function
SLC2A10	solute carrier family 2 member 10 in Arterial Tortuosity Syndrome	1
SLC2A2	solute carrier family 2 member 2 in Fanconi-Bickel Syndrome	1
SLC2A3	solute carrier family 2 member 3 in Huntington Disease	1
SLC2A5	solute carrier family 2 member 5 in Glucose-Galactose Malabsorption	1
SLC2A9	solute carrier family 2 member 9 in Gout	1
SLC30A10	solute carrier family 30 member 10 in Manganism	1
SLC32A1	solute carrier family 32 member 1 in Genetic Developmental and Epileptic Encephalopathy	1
SLC34A2	solute carrier family 34 member 2 in Pulmonary Alveolar Microlithiasis	1
SLC34A3	in Hereditary Hypophosphatemic Rickets with Hypercalciuria	1
SLC35A1	solute carrier family 35 member A1	1	summary: verified function
SLC35A2	solute carrier family 35 member A2 in SLC35A2-congenital disorder of glycosylation	1
SLC35A3	solute carrier family 35 member A3 in Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	1
SLC35C1	solute carrier family 35 member C1 in Leukocyte Adhesion Deficiency Type II	1
SLC35D1	solute carrier family 35 member D1 in Schneckenbecken Dysplasia	1
SLC38A3	solute carrier family 38 member 3 in Genetic Developmental and Epileptic Encephalopathy	1
SLC39A13	solute carrier family 39 member 13 in Spondylodysplastic Ehlers-Danlos Syndrome	1
SLC39A4	solute carrier family 39 member 4 in Acrodermatitis Enteropathica	1
SLC39A7	solute carrier family 39 member 7 in Autosomal Agammaglobulinemia	1
SLC39A9	solute carrier family 39 member 9 in Ebola Virus Disease (EVD)	1
SLC40A1	solute carrier family 40 member 1 in Hemochromatosis	1	function
SLC44A1	solute carrier family 44 member 1 in SLC44A1-Related Childhood-Onset Neurodegeneration	1
SLC44A4	solute carrier family 44 member 4 in Hearing Loss Autosomal Dominant 72	1
SLC45A1	solute carrier family 45 member 1 in SLC45A1-Related Neuronal Glucose Transporter Deficiency	1
SLC45A3	solute carrier family 45 member 3 in Hashimoto's Thyroiditis	1
SLC4A3	solute carrier family 4 member 3 in Short QT Syndrome	1
SLC52A2	solute carrier family 52 member 2 in Brown-Vialetto-Van Laere Syndrome	1	function
SLC52A3	solute carrier family 52 member 3 in Brown-Vialetto-Van Laere Syndrome	1	function
SLC5A1	solute carrier family 5 member 1 in Glucose-Galactose Malabsorption	1
SLC5A5	solute carrier family 5 member 5 in Congenital Hypothyroidism	1
SLC5A6	in SLC5A6-Related Multivitamin Transporter Deficiency	1
SLC67A1	solute carrier family 67 member 1 in Embryonal Rhabdomyosarcoma	1
SLC6A19	solute carrier family 6 member 19 in Hartnup Disease	1
SLC6A5	solute carrier family 6 member 5 in Hereditary Hyperekplexia	1
SLC6A6	solute carrier family 6 member 6 in Taurine transporter deficiency	1	function
SLC6A8	solute carrier family 6 member 8 in Creatine Transporter Deficiency	1	function
SLC7A7	solute carrier family 7 member 7 in Lysinuric protein intolerance	1
SLC7A9	solute carrier family 7 member 9 in Cystinuria	1
SLC8A1	solute carrier family 8 member A1 in Digitalis Poisoning	1
SLC9A6	solute carrier family 9 member A6 in Christianson Syndrome	1
SLC9A7	solute carrier family 9 member A7 in Non-Syndromic X-Linked Intellectual Disability	1
SLCO1A2	solute carrier organic anion transporter family member 1A2 in Normal Pressure Hydrocephalus	1
SLCO2A1	solute carrier organic anion transporter family member 2A1 in Primary Hypertrophic Osteoarthropathy	1
SLCO3A1	solute carrier organic anion transporter family member 3A1 in Antisocial Personality Disorder	1
SLCO5A1	solute carrier organic anion transporter family member 5A1 in Mesomelia-Synostoses Syndrome	1	function
SLF2	SMC5/6 complex localization factor 2 in Mosaic Variegated Aneuploidy Syndrome	1
SLFN11	schlafen family member 11 in Ewing Sarcoma	1
SLFN14	schlafen family member 14 in Platelet-type Bleeding Disorder 20	1
SLIT2	slit guidance ligand 2 in Familial Vesicoureteral Reflux	1
SLIT3	slit guidance ligand 3 in Congenital Diaphragmatic Hernia	1
SLITRK5	SLIT and NTRK like family member 5 in Obsessive-Compulsive Disorder	1
SLURP1	in Mal de Meleda	1
SLX4	SLX4 structure-specific endonuclease subunit in Fanconi_Anemia	1	function
SMAD7	SMAD family member 7 in Tonne-Kalscheuer Syndrome	1
SMARCAD1	in absence of fingerprints-congenital milia syndrome	1
SMARCAL1	SNF2 related chromatin remodeling annealing helicase 1 in Schimke immuno-osseous dysplasia	1
SMARCC1	SWI/SNF related BAF chromatin remodeling complex subunit C1 in Congenital Hydrocephalus	1
SMARCC2	SWI/SNF related BAF chromatin remodeling complex subunit C2 in Coffin-Siris syndrome	1
SMARCD1	SWI/SNF related BAF chromatin remodeling complex subunit D1 in Coffin-Siris syndrome	1
SMARCE1	SWI/SNF related BAF chromatin remodeling complex subunit E1 in Coffin-Siris syndrome	1
SMC3	structural maintenance of chromosomes 3 in Cornelia de Lange syndrome	1
SMC5	structural maintenance of chromosomes 5 in Mosaic Variegated Aneuploidy Syndrome	1
SMG1	in Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	1
SMG8	in Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	1
SMG9	in Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	1
SMN1	survival of motor neuron 1, telomeric in Spinal Muscular Atrophy	1
SMN2	survival of motor neuron 2, centromeric in Spinal Muscular Atrophy	1
SMOC1	SPARC related modular calcium binding 1 in Type 2 Diabetes Mellitus	1
SMOX	in Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	1
SMPD4	in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	1
SMS	spermine synthase	1	summary: verified function
SNIP1	Smad nuclear interacting protein 1 in SNIP1-Related Neurodevelopmental Disorder	1
SNRPB	small nuclear ribonucleoprotein polypeptides B and B1 in Cerebrocostomandibular Syndrome	1
SNRPN	small nuclear ribonucleoprotein polypeptide N in Prader-Willi Syndrome	1
SNTA1	syntrophin alpha 1 in Familial Long QT Syndrome	1
SNX10	sorting nexin 10 in Osteopetrosis	1
SNX14	sorting nexin 14 in Autosomal Recessive Spinocerebellar Ataxia 20	1
SNX8	sorting nexin 8 in Multisystem Inflammatory Syndrome in Children (MIS-C)	1
SOBP	sine oculis binding protein homolog in Intellectual Disability, Anterior Maxillary Protrusion, and Strabismus	1
SOCS1	suppressor of cytokine signaling 1 in SOCS1 Haploinsufficiency	1	function
SOD2	superoxide dismutase 2 in Noise Induced Hearing Loss	1
SOHLH1	spermatogenesis and oogenesis specific basic helix-loop-helix 1 in 46,XX Gonadal Dysgenesis	1
SON	SON DNA and RNA binding protein in ZTTK syndrome	1
SOS2	SOS Ras/Rho guanine nucleotide exchange factor 2 in Noonan Syndrome	1
SOX4	SRY-box transcription factor 4 in Coffin-Siris syndrome	1
SOX5	SRY-box transcription factor 5 in 12p12.1 Microdeletion Syndrome	1
SOX7	SRY-box transcription factor 7 in 8p Inverted Duplication Deletion Syndrome	1
SOX8	SRY-box transcription factor 8 in 46,XY complete gonadal dysgenesis	1
SP110	SP110 nuclear body protein in Hepatic veno-occlusive disease-immunodeficiency syndrome	1
SP6	Sp6 transcription factor in Amelogenesis Imperfecta	1
SPARC	secreted protein acidic and cysteine rich in Osteogenesis Imperfecta Type XVII	1	function
SPART	spartin in Complex Hereditary Spastic Paraplegia	1
SPAST	spastin in Hereditary Spastic Paraplegia	1
SPEG	striated muscle enriched protein kinase in Centronuclear Myopathy	1
SPEN	in Radio-Tartaglia Syndrome	1
SPIDR	scaffold protein involved in DNA repair in 46,XX Gonadal Dysgenesis	1
SPINK7	serine peptidase inhibitor Kazal type 7 in Eosinophilic Esophagitis	1
SPNS2	SPNS lysolipid transporter 2, sphingosine-1-phosphate in Autosomal Recessive Nonsyndromic Hearing Loss 115	1
SPOP	speckle type BTB/POZ protein in SPOP-Related Neurodevelopmental Disorder	1
SPP1	secreted phosphoprotein 1 in Raine Syndrome	1
SPPL2A	signal peptide peptidase like 2A in Immunodeficiency 86	1
SPRED1	sprouty related EVH1 domain containing 1 in Legius Syndrome	1
SPRED2	sprouty related EVH1 domain containing 2 in Noonan Syndrome	1
SPRY2	sprouty RTK signaling antagonist 2 in Autosomal Recessive Nonsyndromic Hearing Loss 26	1
SPRY4	sprouty RTK signaling antagonist 4 in Kallmann Syndrome	1
SPTBN4	spectrin beta, non-erythrocytic 4 in SPTBN4-Related Neurodevelopmental Disorder	1
SPTSSA	serine palmitoyltransferase small subunit A in Spastic Paraplegia 90A, Autosomal Dominant	1	function
SQOR	in Sulfide Quinone Oxidoreductase Deficiency	1
SRD5A1	steroid 5 alpha-reductase 1 in Androgenetic Alopecia	1
SRD5A3	steroid 5 alpha-reductase 3 in SRD5A3-Congenital Disorder of Glycosylation	1	function
SREBF1	sterol regulatory element binding transcription factor 1 in IFAP Syndrome 2	1
SRF	in Dilated Cardiomyopathy 2G	1
SRGAP1	SLIT-ROBO Rho GTPase activating protein 1 in Familial Nonmedullary Thyroid Carcinoma	1
SRGAP3	SLIT-ROBO Rho GTPase activating protein 3 in 3p- Syndrome	1
SRP54	signal recognition particle 54 in Shwachman-Diamond syndrome	1
SRP72	signal recognition particle 72 in Autosomal Dominant Aplasia and Myelodysplasia	1	function
SRPK3	SRSF protein kinase 3 in Intellectual Developmental Disorder, X-Linked 114	1
SRPX2	sushi repeat containing protein X-linked 2 in SRPX2-related Speech-Epilepsy-Polymicrogyria	1
SRSF11	serine and arginine rich splicing factor 11 in Fatal Familial Insomnia	1
SS18L1	SS18L1 subunit of BAF chromatin remodeling complex in Amyotrophic Lateral Sclerosis	1
SSB	small RNA binding exonuclease protection factor La in Neonatal Lupus Erythematosus	1
SSBP1	single stranded DNA binding protein 1 in Optic Atrophy 13 With Retinal and Foveal Abnormalities	1
SSR4	in SSR4-Congenital Disorder of Glycosylation	1
SSTR2	somatostatin receptor 2 in AIP-related pituitary adenoma predisposition	1
SSX2	SSX family member 2 in Synovial Sarcoma	1
SSX4	SSX family member 4 in Synovial Sarcoma	1
ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5 in GM3 synthase deficiency	1	function
STAG1	STAG1 cohesin complex component in Autosomal Dominant Non-Syndromic Intellectual Disability	1
STAG3	STAG3 cohesin complex component in STAG3-related gametogenic failure	1
STAMBP	STAM binding protein in Microcephaly-Capillary Malformation Syndrome	1
STARD7	StAR related lipid transfer domain containing 7 in Pentanucleotide Repeat Familial Adult Myoclonus Epilepsy	1
STAT2	signal transducer and activator of transcription 2 in STAT2 Deficiency	1	function
STEAP3	STEAP3 metalloreductase in TFRC-related Combined Immunodeficiency	1
STIL	STIL centriolar assembly protein in Autosomal Recessive Primary Microcephaly	1
STK4	serine/threonine kinase 4 in STK4 Deficiency	1
STMN2	stathmin 2 in Amyotrophic Lateral Sclerosis	1
STN1	STN1 subunit of CST complex in Dyskeratosis Congenita	1
STT3A	STT3 oligosaccharyltransferase complex catalytic subunit A	1	summary: verified function
STX11	syntaxin 11 in Hemophagocytic Lymphohistiocytosis	1
STX1A	syntaxin 1A in STX1B-Related Epilepsy	1
STX3	syntaxin 3 in Microvillus Inclusion Disease	1
STX4	syntaxin 4 in Autosomal Recessive Nonsyndromic Hearing Loss 123	1
STXBP2	syntaxin binding protein 2 in Hemophagocytic Lymphohistiocytosis	1
SUCLA2	succinate-CoA ligase ADP-forming subunit beta	1	summary: verified
SULF1	sulfatase 1 in Mesomelia-Synostoses Syndrome	1
SULT2B1	sulfotransferase family 2B member 1 in Autosomal Recessive Congenital Ichthyosis	1
SUMF1	sulfatase modifying factor 1 in Multiple Sulfatase Deficiency	1
SUOX	sulfite oxidase in Isolated Sulfite Oxidase Deficiency	1	function
SURF4	surfeit 4 in COPA Syndrome	1
SV2A	synaptic vesicle glycoprotein 2A in Genetic Developmental and Epileptic Encephalopathy	1
SVEP1	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 in Congenital Glaucoma	1
SYCE1	synaptonemal complex central element protein 1 in SYCE1-related gametogenic failure	1
SYCP2	synaptonemal complex protein 2 in SYCP2-related spermatogenic failure	1
SYCP3	synaptonemal complex protein 3 in SYCP3-related spermatogenic failure	1
SYNE2	spectrin repeat containing nuclear envelope protein 2 in Emery-Dreifuss Muscular Dystrophy	1	function
SYNPO	synaptopodin in Focal Segmental Glomerulosclerosis	1
SYP	synaptophysin in Non-Syndromic X-Linked Intellectual Disability	1	function
SYT1	synaptotagmin 1 in SYT1-Associated Neurodevelopmental Disorder	1
SZT2	SZT2 subunit of KICSTOR complex in SZT2-Related Developmental and Epileptic Encephalopathy	1
TAAR1	trace amine associated receptor 1 in Fibromyalgia	1
TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2 in Congenital Heart Defects, Multiple Types, 2	1
TACO1	translational activator of cytochrome c oxidase I in TACO1-Related COX Deficiency	1	function
TACSTD2	tumor associated calcium signal transducer 2 in Corneal Dystrophy	1
TAF13	TATA-box binding protein associated factor 13 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
TAF15	TATA-box binding protein associated factor 15 in Amyotrophic Lateral Sclerosis	1
TAF4	TATA-box binding protein associated factor 4 in Autosomal Dominant Non-Syndromic Intellectual Disability	1
TAGLN2	in Hepatocellular Carcinoma	1
TALDO1	transaldolase 1 in Transaldolase Deficiency	1	function
TANGO2	transport and golgi organization 2 homolog in TANGO2 Deficiency Disorder	1
TARS2	threonyl-tRNA synthetase 2, mitochondrial	1	summary: verified
TAT	tyrosine aminotransferase in Tyrosinemia Type II	1	function
TBC1D20	TBC1 domain family member 20 in Warburg micro syndrome	1
TBC1D23	TBC1 domain family member 23 in Pontocerebellar Hypoplasia	1
TBC1D4	TBC1 domain family member 4 in Type 2 Diabetes Mellitus	1
TBCE	tubulin folding cofactor E in Sanjad-Sakati Syndrome	1
TBCK	TBC1 domain containing kinase in Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3	1	function
TBL1X	transducin beta like 1 X-linked in Central Congenital Hypothyroidism	1
TBL1XR1	TBL1X/Y related 1 in Autosomal Dominant Non-Syndromic Intellectual Disability	1
TBX18	T-box transcription factor 18 in Adult-Onset Myasthenia Gravis	1
TBX19	in Congenital Isolated ACTH Deficiency	1
TBX2	in Vertebral Anomalies And Variable Endocrine And T-cell Dysfunction	1
TBX21	T-box transcription factor 21 in Immunodeficiency 88	1
TBX3	T-box transcription factor 3 in Ulnar-Mammary Syndrome	1
TBXT	T-box transcription factor T in Chordoma	1
TCF20	transcription factor 20 in TCF20-Associated Neurodevelopmental Disorder	1
TCN2	transcobalamin 2 in Inborn Disorder of Cobalamin Metabolism and Transport	1	function
TCOF1	treacle ribosome biogenesis factor 1 in Treacher Collins Syndrome	1
TCTN1	tectonic family member 1 in Joubert syndrome	1
TECPR2	tectonin beta-propeller repeat containing 2 in Hereditary Spastic Paraplegia 49	1
TECR	trans-2,3-enoyl-CoA reductase in Autosomal Recessive Non-Syndromic Intellectual Disability	1	function
TECRL	trans-2,3-enoyl-CoA reductase like in RYR2 CPVT	1
TECTA	tectorin alpha in Autosomal Dominant Nonsyndromic Hearing Loss 12	1
TELO2	telomere maintenance 2 in You-Hoover-Fong Syndrome	1
TENM3	teneurin transmembrane protein 3 in Microphthalmia with Coloboma	1
TENT5A	terminal nucleotidyltransferase 5A in Osteogenesis Imperfecta Type XVIII	1
TET3	tet methylcytosine dioxygenase 3 in Beck-Fahrner Syndrome	1
TEX11	testis expressed 11 in TEX11-related spermatogenic failure	1
TFAM	transcription factor A, mitochondrial in Perrault Syndrome	1
TFAP2A	transcription factor AP-2 alpha in Branchiooculofacial Syndrome	1
TFAP2B	transcription factor AP-2 beta in Congenital Heart Disease	1
TFEB	in Long-Olsen-Distelmaier Syndrome	1
TFG	trafficking from ER to golgi regulator in Complex Hereditary Spastic Paraplegia	1
TFPI	in Congenital Factor V Deficiency	1
TFR2	transferrin receptor 2 in Hemochromatosis	1	function
TG	thyroglobulin in Congenital Hypothyroidism	1
TGIF1	TGFB induced factor homeobox 1 in Chromosome 18p Deletion Syndrome	1
TGM3	transglutaminase 3 in Dermatitis Herpetiformis	1
TGM6	transglutaminase 6 in Autosomal Dominant Cerebellar Ataxia Type I	1
THADA	THADA armadillo repeat containing in Polycystic Ovary Syndrome	1
THBD	thrombomodulin in Atypical Hemolytic Uremic Syndrome	1
THG1L	tRNA-histidine guanylyltransferase 1 like in THG1L-Related Disorder	1	function
THOC2	THO complex subunit 2 in THOC2-Related Intellectual Disability	1
THOC6	THO complex subunit 6 in THOC6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	1
THRA	thyroid hormone receptor alpha in Resistance to Thyroid Hormone Alpha	1
THRB	thyroid hormone receptor beta in Generalized Resistance to Thyroid Hormone	1
THSD1	thrombospondin type 1 domain containing 1 in Intracranial berry aneurysm	1
THSD4	thrombospondin type 1 domain containing 4 in Familial Thoracic Aortic Aneurysm and Aortic Dissection	1
THSD7A	thrombospondin type 1 domain containing 7A in Membranous nephropathy	1
THUMPD1	THUMP domain 1 NAT10 acetyltransferase adaptor in THUMPD1-Related Neurodevelopmental Disorder with Speech Delay and Variable Ocular Anomalies	1
TICAM1	TIR domain containing adaptor molecule 1 in Viral Encephalitis	1
TIE1	tyrosine kinase with immunoglobulin like and EGF like domains 1 in Ovarian Hyperstimulation Syndrome	1
TIMELESS	timeless circadian regulator in Advanced Sleep Phase Syndrome	1
TIMM50	in 3-Methylglutaconic Aciduria Type 9	1
TIMM8A	translocase of inner mitochondrial membrane 8A in Deafness-Dystonia-Optic Neuronopathy Syndrome	1
TIMMDC1	translocase of inner mitochondrial membrane domain containing 1 in Mitochondrial Complex I Deficiency Nuclear Type 31	1	function
TIMP1	TIMP metallopeptidase inhibitor 1 in Preterm Premature Rupture of the Membranes	1
TIMP3	TIMP metallopeptidase inhibitor 3 in Age-Related Macular Degeneration	1
TJP1	tight junction protein 1 in arrhythmogenic right ventricular cardiomyopathy	1
TJP2	tight junction protein 2 in Progressive Familial Intrahepatic Cholestasis	1
TKT	transketolase in Transketolase Deficiency	1	function
TLK2	tousled like kinase 2 in Autosomal Dominant Non-Syndromic Intellectual Disability	1
TLL1	tolloid like 1 in Atrial Septal Defect	1
TLR8	toll like receptor 8 in Immunodeficiency 98 With Autoinflammation	1
TLR9	toll like receptor 9 in Systemic Lupus Erythematosus	1
TM2D3	in Neurocardiorenal Malformation Syndrome	1
TM6SF2	transmembrane 6 superfamily member 2 in Metabolic Dysfunction-Associated Steatotic Liver Disease	1
TMEFF2	transmembrane protein with EGF like and two follistatin like domains 2 in Chromosome 2q32-q33 Deletion Syndrome	1
TMEM126A	transmembrane protein 126A in Autosomal Recessive Optic Atrophy OPA7 Type	1
TMEM132D	transmembrane protein 132D in Agoraphobia	1
TMEM138	transmembrane protein 138 in Joubert syndrome	1
TMEM147	in neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	1
TMEM151A	transmembrane protein 151A in Paroxysmal Dyskinesia	1
TMEM165	transmembrane protein 165 in TMEM165-Congenital Disorder of Glycosylation	1
TMEM17	transmembrane protein 17 in Meckel Syndrome	1
TMEM218	transmembrane protein 218 in Joubert syndrome	1
TMEM240	transmembrane protein 240 in Autosomal Dominant Cerebellar Ataxia Type I	1
TMEM260	transmembrane protein 260 in Persistent Truncus Arteriosus	1
TMEM38B	transmembrane protein 38B in Osteogenesis Imperfecta Type XIV	1
TMEM63B	transmembrane protein 63B in Genetic Developmental and Epileptic Encephalopathy	1	function
TMEM63C	transmembrane protein 63C in Hereditary Spastic Paraplegia	1
TMEM70	transmembrane protein 70	1	summary: verified function
TMEM98	transmembrane protein 98 in Isolated Anophthalmia-Microphthalmia Syndrome	1
TMLHE	trimethyllysine hydroxylase, epsilon in TMLHE Deficiency	1
TMOD1	tropomodulin 1 in Dilated Cardiomyopathy	1
TMPO	thymopoietin in Hypertrophic Cardiomyopathy	1
TMPRSS2	transmembrane serine protease 2 in COVID-19	1
TMPRSS6	transmembrane serine protease 6 in IRIDA Syndrome	1
TMTC3	transmembrane O-mannosyltransferase targeting cadherins 3 in Lissencephaly Spectrum Disorders	1
TMUB1	transmembrane and ubiquitin like domain containing 1 in Autosomal Dominant Sensory Ataxia 1	1
TNFAIP6	TNF alpha induced protein 6 in Kashin-Beck Disease	1
TNFRSF8	TNF receptor superfamily member 8 in Anaplastic Large Cell Lymphoma	1
TNFSF12	TNF superfamily member 12 in Common Variable Immunodeficiency	1
TNFSF15	TNF superfamily member 15 in Crohn Disease	1
TNIK	TRAF2 and NCK interacting kinase in Autosomal Recessive Non-Syndromic Intellectual Disability	1
TNIP1	TNFAIP3 interacting protein 1 in Adult-Onset Myasthenia Gravis	1
TNNI2	troponin I2, fast skeletal type in Camptodactyly	1
TNNI3K	TNNI3 interacting kinase in Dilated Cardiomyopathy	1
TNNT1	troponin T1, slow skeletal type in Nemaline Myopathy	1
TNPO3	transportin 3 in Limb-Girdle Muscular Dystrophy, Autosomal Dominant	1
TNRC6A	trinucleotide repeat containing adaptor 6A in Pentanucleotide Repeat Familial Adult Myoclonus Epilepsy	1
TOE1	target of EGR1, exonuclease in Pontocerebellar Hypoplasia	1
TOGARAM1	TOG array regulator of axonemal microtubules 1 in Joubert syndrome	1
TOM1	target of myb1 membrane trafficking protein in Immunodeficiency 85 and Autoimmunity	1
TOMM7	translocase of outer mitochondrial membrane 7 in Garg-Mishra Progeroid Syndrome	1	function
TONSL	tonsoku like, DNA repair protein in Spondyloepimetaphyseal Dysplasia Sponastrime Type	1
TOP1	DNA topoisomerase I in Autoimmune Pancreatitis	1
TOP2B	DNA topoisomerase II beta in Autosomal Agammaglobulinemia	1	function
TOP3A	in Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2	1
TOP6BL	TOP6B like initiator of meiotic double strand breaks in Hydatidiform Mole	1
TOPORS	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase in Joubert syndrome	1
TOR1A	torsin family 1 member A in Early-onset Generalized Limb-onset Dystonia	1
TP53RK	TP53 regulating kinase in Galloway-Mowat syndrome	1
TP73	tumor protein p73 in Primary Ciliary Dyskinesia 47 and Lissencephaly	1
TPH2	in Major Depressive Disorder	1
TPI1	triosephosphate isomerase 1 in Triosephosphate Isomerase Deficiency	1	function
TPM3	tropomyosin 3 in Nemaline Myopathy	1	function
TPO	thyroid peroxidase in Congenital Hypothyroidism	1
TPP2	tripeptidyl peptidase 2 in Evans Syndrome	1
TPRKB	TP53RK binding protein in Galloway-Mowat syndrome	1
TPRN	taperin in Autosomal Recessive Nonsyndromic Hearing Loss 79	1
TRAIP	TRAF interacting protein in Seckel syndrome	1
TRAK1	trafficking kinesin protein 1 in Genetic Developmental and Epileptic Encephalopathy	1
TRANK1	tetratricopeptide repeat and ankyrin repeat containing 1 in Kleine-Levin Syndrome	1
TRAPPC11	trafficking protein particle complex subunit 11 in Autosomal Recessive Limb-Girdle Muscular Dystrophy	1	function
TRAPPC12	trafficking protein particle complex subunit 12 in TRAPPC12-Related Encephalopathy	1	function
TRAPPC14	trafficking protein particle complex subunit 14 in Autosomal Recessive Primary Microcephaly	1
TRAPPC2	trafficking protein particle complex subunit 2 in X-Linked Spondyloepiphyseal Dysplasia Tarda	1
TRAPPC4	trafficking protein particle complex subunit 4 in Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy	1	function
TRAPPC9	trafficking protein particle complex subunit 9 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
TRBV11-2	T cell receptor beta variable 11-2 in Multisystem Inflammatory Syndrome in Children (MIS-C)	1
TREH	trehalase in Trehalase Deficiency	1
TREX1	three prime repair exonuclease 1 in Aicardi-Goutieres Syndrome	1
TRHR	thyrotropin releasing hormone receptor in Central Congenital Hypothyroidism	1
TRIM2	tripartite motif containing 2 in Charcot-Marie-Tooth Disease Type 2	1
TRIM32	tripartite motif containing 32 in Bardet-Biedl syndrome	1
TRIM33	tripartite motif containing 33 in Dermatomyositis	1
TRIM36	tripartite motif containing 36 in Anencephaly	1
TRIM37	tripartite motif containing 37 in Mulibrey Nanism	1
TRIM44	TRIM family member 44 in Aniridia	1
TRIM62	tripartite motif containing 62 in Ischemic Stroke	1
TRIM63	tripartite motif containing 63 in Hypertrophic Cardiomyopathy	1
TRIM71	tripartite motif containing 71 in Congenital Hydrocephalus	1
TRIM8	tripartite motif containing 8 in Ewing Sarcoma	1
TRIOBP	TRIO and F-actin binding protein in Autosomal Recessive Nonsyndromic Hearing Loss 28	1
TRIP12	thyroid hormone receptor interactor 12 in Autosomal Dominant Non-Syndromic Intellectual Disability	1
TRIP13	thyroid hormone receptor interactor 13 in Mosaic Variegated Aneuploidy Syndrome	1
TRIT1	tRNA isopentenyltransferase 1 in Combined Oxidative Phosphorylation Deficiency 35	1
TRMT1	tRNA methyltransferase 1 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
TRMT10A	tRNA methyltransferase 10A in Microcephaly, Short Stature, and Impaired Glucose Metabolism 1	1
TRMT10C	tRNA methyltransferase 10C, mitochondrial RNase P subunit	1	summary: verified
TRMT5	tRNA methyltransferase 5 in Combined Oxidative Phosphorylation Defect Type 26	1
TRPC3	transient receptor potential cation channel subfamily C member 3 in Autosomal Dominant Cerebellar Ataxia Type III	1
TRPC6	transient receptor potential cation channel subfamily C member 6 in Focal Segmental Glomerulosclerosis	1
TRPM1	transient receptor potential cation channel subfamily M member 1 in Congenital Stationary Night Blindness	1
TRPM3	transient receptor potential cation channel subfamily M member 3 in Migraine	1
TRPM6	in Renal Hypomagnesemia 4	1
TRPM7	transient receptor potential cation channel subfamily M member 7 in Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex	1
TRPM8	transient receptor potential cation channel subfamily M member 8 in Migraine	1
TRPV1	transient receptor potential cation channel subfamily V member 1 in Cannabis Hyperemesis Syndrome	1
TRPV2	transient receptor potential cation channel subfamily V member 2 in Fibromyalgia	1
TRPV3	transient receptor potential cation channel subfamily V member 3 in Fibromyalgia	1
TSEN15	tRNA splicing endonuclease subunit 15 in Pontocerebellar Hypoplasia	1
TSEN2	tRNA splicing endonuclease subunit 2 in Pontocerebellar Hypoplasia	1
TSEN34	tRNA splicing endonuclease subunit 34 in Pontocerebellar Hypoplasia	1
TSEN54	tRNA splicing endonuclease subunit 54 in Pontocerebellar Hypoplasia	1
TSLP	thymic stromal lymphopoietin in Eosinophilic Esophagitis	1
TSPAN12	tetraspanin 12 in Familial Exudative Vitreoretinopathy	1
TSPAN7	tetraspanin 7 in Non-Syndromic X-Linked Intellectual Disability	1
TSPOAP1	in Dystonia 22, Juvenile-Onset	1
TSR2	TSR2 ribosome maturation factor in Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis	1
TST	thiosulfate sulfurtransferase in Cyanide Poisoning	1
TTBK2	tau tubulin kinase 2 in Autosomal Dominant Cerebellar Ataxia Type III	1
TTC12	in Primary_Ciliary_Dyskinesia	1
TTC19	tetratricopeptide repeat domain 19 in TTC19-related mitochondrial complex III deficiency	1	function
TTC21B	tetratricopeptide repeat domain 21B in Nephronophthisis	1
TTC9B	tetratricopeptide repeat domain 9B in Postpartum Depression	1
TTLL5	tubulin tyrosine ligase like 5 in Cone Dystrophy	1
TTPA	alpha tocopherol transfer protein in Familial Isolated Vitamin E Deficiency	1
TUBA4A	tubulin alpha 4a in TUBA4A-related Disorder	1
TUBA8	tubulin alpha 8 in TUBA8-related Polymicrogyria with Optic Nerve Hypoplasia	1
TUBB	tubulin beta class I in TUBB/TUBB5-related Microcephaly	1
TUBB1	tubulin beta 1 class VI in TUBB1-related Macrothrombocytopenia	1
TUBB4A	tubulin beta 4A class IVa in TUBB4A-related Neurologic Disorder	1
TUBB8	tubulin beta 8 class VIII in TUBB8-related Oocyte Maturation Defect	1
TUBGCP2	tubulin gamma complex component 2 in TUBGCP2-related Lissencephaly Spectrum Disorder	1
TUBGCP4	tubulin gamma complex component 4 in TUBGCP4-related Microcephaly and Chorioretinopathy	1
TUBGCP5	tubulin gamma complex component 5 in Prader-Willi Syndrome	1
TUBGCP6	tubulin gamma complex component 6 in TUBGCP6-related Microcephaly and Chorioretinopathy	1
TUFM	Tu translation elongation factor, mitochondrial in Combined Oxidative Phosphorylation Defect Type 4	1
TUSC3	tumor suppressor candidate 3 in Autosomal Recessive Non-Syndromic Intellectual Disability	1	function
TXNDC15	thioredoxin domain containing 15 in Meckel Syndrome	1
TXNL4A	thioredoxin like 4A in Burn-McKeown Syndrome	1
TXNRD2	thioredoxin reductase 2 in Familial Glucocorticoid Deficiency	1
TYROBP	transmembrane immune signaling adaptor TYROBP in Nasu-Hakola Disease	1
TYRP1	tyrosinase related protein 1 in Oculocutaneous Albinism	1
UBA5	ubiquitin like modifier activating enzyme 5 in UBA5-Related Developmental and Epileptic Encephalopathy	1	function
UBAP1	ubiquitin associated protein 1 in Hereditary Spastic Paraplegia	1	function
UBE2T	ubiquitin conjugating enzyme E2 T in Fanconi_Anemia	1	function
UBE3C	ubiquitin protein ligase E3C in Neurodevelopmental Disorder With Absent Speech and Movement and Behavioral Abnormalities	1
UBQLN2	ubiquilin 2 in Amyotrophic Lateral Sclerosis	1
UBR1	ubiquitin protein ligase E3 component n-recognin 1 in Johanson-Blizzard syndrome	1
UBTF	in childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	1
UCHL1	ubiquitin C-terminal hydrolase L1 in UCHL1-Related Neurodegeneration with Optic Atrophy and Spastic Paraplegia	1	function
UCP2	uncoupling protein 2 in Hyperinsulinemic Hypoglycemia	1
UFM1	ubiquitin fold modifier 1 in Hypomyelinating Leukodystrophy 14	1	function
UFSP2	UFM1 specific peptidase 2 in Genetic Developmental and Epileptic Encephalopathy	1	function
UGDH	UDP-glucose 6-dehydrogenase in UGDH-related developmental and epileptic encephalopathy 84	1
UGGT1	UDP-glucose glycoprotein glucosyltransferase 1 in UGGT1-congenital disorder of glycosylation	1	function
UGP2	UDP-glucose pyrophosphorylase 2 in UGP2-related developmental and epileptic encephalopathy 83	1	function
UHRF1	ubiquitin like with PHD and ring finger domains 1 in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	1
ULBP3	UL16 binding protein 3 in Alopecia Areata	1
UMPS	uridine monophosphate synthetase in Hereditary Orotic Aciduria	1	function
UNC45A	unc-45 myosin chaperone A in Osteootohepatoenteric Syndrome	1
UNC45B	unc-45 myosin chaperone B in Myofibrillar Myopathy	1
UPF1	in Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	1
UROD	uroporphyrinogen decarboxylase in Inherited Porphyria	1	function
UROS	uroporphyrinogen III synthase in Inherited Porphyria	1	function
USH1C	USH1 protein network component harmonin in Usher Syndrome Type 1	1	function
USH1G	USH1 protein network component sans in Usher Syndrome Type 1	1	function
USP1	ubiquitin specific peptidase 1 in Ewing Sarcoma	1
USP26	ubiquitin specific peptidase 26 in Tonne-Kalscheuer Syndrome	1
USP27X	ubiquitin specific peptidase 27 X-linked in Non-Syndromic X-Linked Intellectual Disability	1
USP48	ubiquitin specific peptidase 48 in Cushing Disease	1
USP53	ubiquitin specific peptidase 53 in Progressive Familial Intrahepatic Cholestasis	1
USP6	ubiquitin specific peptidase 6 in Aneurysmal Bone Cyst	1
USP7	ubiquitin specific peptidase 7 in Hao-Fountain syndrome	1
UTY	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked in 47,XYY Syndrome	1
UVSSA	UV stimulated scaffold protein A in UV-Sensitive Syndrome	1
VAMP1	vesicle associated membrane protein 1 in Congenital Myasthenic Syndrome	1
VAMP2	vesicle associated membrane protein 2 in VAMP2-Related Neurodevelopmental Disorder	1
VARS1	valyl-tRNA synthetase 1 in Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy	1
VAV1	vav guanine nucleotide exchange factor 1 in Peripheral T-Cell Lymphoma	1
VAX1	in microphthalmia, syndromic 11	1
VCAM1	vascular cell adhesion molecule 1 in Kawasaki Disease	1
VCAN	versican in Marfan Syndrome	1
VEGFC	in Congenital Primary Lymphedema of Gordon	1
VEZF1	vascular endothelial zinc finger 1 in Cardiomyopathy Dilated 100	1
VEZT	vezatin, adherens junctions transmembrane protein in Endometriosis	1	function
VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog in Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome	1
VMA12	vacuolar ATPase assembly factor VMA12 in TMEM199-CDG	1
VMA22	vacuolar ATPase assembly factor VMA22 in CCDC115-CDG	1
VPS11	VPS11 core subunit of CORVET and HOPS complexes in Hypomyelinating Leukodystrophy 12	1
VPS13A	vacuolar protein sorting 13 homolog A in Chorea-acanthocytosis	1
VPS13B	vacuolar protein sorting 13 homolog B in Cohen Syndrome	1
VPS13C	vacuolar protein sorting 13 homolog C in Parkinson's Disease	1
VPS13D	vacuolar protein sorting 13 homolog D in Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome	1
VPS33A	VPS33A core subunit of CORVET and HOPS complexes in Mucopolysaccharidosis-Plus Syndrome	1
VPS33B	VPS33B late endosome and lysosome associated in Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome	1
VPS35	VPS35 retromer complex component in Parkinson's Disease	1
VPS35L	VPS35 endosomal protein sorting factor like in Ritscher-Schinzel Syndrome	1
VPS37A	VPS37A subunit of ESCRT-I in Complex Hereditary Spastic Paraplegia	1	function
VPS4A	vacuolar protein sorting 4 homolog A in VPS4A-Related Neurodevelopmental Syndrome	1	function
VPS51	VPS51 subunit of GARP complex in VPS51-Related Pontocerebellar Hypoplasia-CDG	1
VPS53	VPS53 subunit of GARP complex in VPS53-Related Pontocerebellar Hypoplasia Type 2E	1
VRK1	VRK serine/threonine kinase 1 in Pontocerebellar Hypoplasia	1
VSX2	visual system homeobox 2 in Isolated Anophthalmia-Microphthalmia Syndrome	1
VWA1	von Willebrand factor A domain containing 1 in Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	1
VWF	von Willebrand factor in Hereditary von Willebrand Disease	1
WAC	WW domain containing adaptor with coiled-coil in DeSanto-Shinawi syndrome	1
WAPL	WAPL cohesin release factor in WAPL-Related Developmental Disorder	1
WARS1	tryptophanyl-tRNA synthetase 1 in Distal Hereditary Motor Neuronopathy Type 9	1
WAS	WASP actin nucleation promoting factor in Wiskott-Aldrich syndrome	1
WASHC4	WASH complex subunit 4 in Intellectual Disability, Autosomal Recessive 43	1
WBP4	WW domain binding protein 4 in Neurodevelopmental Disorder with Hypotonia, Feeding Difficulties, Facial Dysmorphism, and Brain Abnormalities	1
WDR1	WD repeat domain 1 in Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome	1
WDR26	WD repeat domain 26 in Skraban-Deardorff Syndrome	1
WDR35	WD repeat domain 35 in Cranioectodermal Dysplasia	1
WDR36	WD repeat domain 36 in Glaucoma	1
WDR4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit in Galloway-Mowat syndrome	1
WDR45	WD repeat domain 45 in Neurodegeneration With Brain Iron Accumulation	1
WDR6	WD repeat domain 6 in Obsessive-Compulsive Disorder	1	function
WDR62	WD repeat domain 62 in Autosomal Recessive Primary Microcephaly	1
WDR72	WD repeat domain 72 in Amelogenesis Imperfecta	1
WDR73	WD repeat domain 73 in Galloway-Mowat syndrome	1
WFDC2	WAP four-disulfide core domain 2 in Bronchiectasis and Nasal Polyposis	1
WLS	in Zaki Syndrome	1
WNT1	Wnt family member 1 in Osteogenesis Imperfecta Type XV	1
WNT11	Wnt family member 11 in Visceral heterotaxy	1
WNT5A	Wnt family member 5A in Autosomal Dominant Robinow Syndrome 1	1
WNT7B	Wnt family member 7B in Dupuytren Contracture	1
WNT9B	Wnt family member 9B in Mayer-Rokitansky-Kuster-Hauser_Syndrome	1
WRAP53	WD repeat containing antisense to TP53 in Dyskeratosis Congenita	1
WWOX	WW domain containing oxidoreductase in WWOX-Related Developmental and Epileptic Encephalopathy	1
WWTR1	WW domain containing transcription regulator 1 in Epithelioid Hemangioendothelioma	1
XDH	xanthine dehydrogenase in Hereditary Xanthinuria	1	function
XK	X-linked Kx blood group antigen, Kell and VPS13A binding protein in McLeod Neuroacanthocytosis Syndrome	1
XPA	XPA, DNA damage recognition and repair factor in Xeroderma Pigmentosum	1
XPC	XPC complex subunit, DNA damage recognition and repair factor in Xeroderma Pigmentosum	1
XPNPEP3	X-prolyl aminopeptidase 3 in Nephronophthisis	1
XPR1	xenotropic and polytropic retrovirus receptor 1 in Bilateral Striopallidodentate Calcinosis	1
XRCC2	X-ray repair cross complementing 2 in Fanconi_Anemia	1	function
XRCC4	X-ray repair cross complementing 4 in Short Stature, Microcephaly, and Endocrine Dysfunction	1
XYLT2	xylosyltransferase 2 in Spondylo-ocular Syndrome	1
YARS1	tyrosyl-tRNA synthetase 1 in Intermediate Charcot-Marie-Tooth Disease	1
YARS2	tyrosyl-tRNA synthetase 2 in Myopathy, Lactic Acidosis, and Sideroblastic Anemia	1
YBX1	Y-box binding protein 1 in Spondyloepiphyseal Dysplasia, Nishimura Type	1
YEATS2	YEATS domain containing 2 in Pentanucleotide Repeat Familial Adult Myoclonus Epilepsy	1
YRDC	yrdC N6-threonylcarbamoyltransferase domain containing in Galloway-Mowat syndrome	1
YTHDF2	YTH N6-methyladenosine RNA binding protein F2 in Aflatoxin-Related Hepatocellular Carcinoma	1
YWHAE	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon in Miller-Dieker Lissencephaly Syndrome	1
YWHAG	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma in YWHAG Syndrome	1
YY1AP1	YY1 associated protein 1 in Grange syndrome	1
ZBTB10	zinc finger and BTB domain containing 10 in Adult-Onset Myasthenia Gravis	1
ZBTB11	zinc finger and BTB domain containing 11 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
ZBTB18	zinc finger and BTB domain containing 18 in Autosomal Dominant Non-Syndromic Intellectual Disability	1
ZBTB20	zinc finger and BTB domain containing 20 in Primrose Syndrome	1
ZBTB24	zinc finger and BTB domain containing 24 in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	1
ZBTB42	zinc finger and BTB domain containing 42 in Lethal Congenital Contracture Syndrome	1
ZC3H12A	in Ulcerative Colitis	1
ZC3H14	zinc finger CCCH-type containing 14 in Autosomal Recessive Non-Syndromic Intellectual Disability	1
ZC4H2	zinc finger C4H2-type containing in Wieacker-Wolff Syndrome Spectrum	1
ZCCHC8	zinc finger CCHC-type containing 8 in Dyskeratosis Congenita	1
ZFHX2	zinc finger homeobox 2 in Congenital Insensitivity to Pain	1
ZFP42	ZFP42 zinc finger protein in Tonne-Kalscheuer Syndrome	1
ZFP57	ZFP57 zinc finger protein in Autosomal Dominant Cerebellar Ataxia Deafness and Narcolepsy	1
ZFX	zinc finger protein X-linked in Intellectual Developmental Disorder, X-Linked, Syndromic 37	1
ZFYVE19	zinc finger FYVE-type containing 19 in Progressive Familial Intrahepatic Cholestasis	1
ZFYVE26	zinc finger FYVE-type containing 26 in Complex Hereditary Spastic Paraplegia	1	function
ZFYVE27	zinc finger FYVE-type containing 27 in Hereditary Spastic Paraplegia	1
ZIC1	Zic family zinc finger 1 in Dandy-Walker Syndrome	1
ZIC4	Zic family zinc finger 4 in Dandy-Walker Syndrome	1
ZMIZ1	zinc finger MIZ-type containing 1 in Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies	1
ZMPSTE24	in Mandibuloacral Dysplasia Type B	1
ZMYM3	zinc finger MYM-type containing 3 in Non-Syndromic X-Linked Intellectual Disability	1
ZMYND11	zinc finger MYND-type containing 11 in Intellectual Disability, Autosomal Dominant 30	1
ZNF155	in Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	1
ZNF28	zinc finger protein 28 in Placental Abruption	1
ZNF335	zinc finger protein 335 in Autosomal Recessive Primary Microcephaly	1
ZNF341	zinc finger protein 341 in ZNF341 Deficiency	1
ZNF384	zinc finger protein 384 in Mixed Phenotype Acute Leukemia	1
ZNF407	zinc finger protein 407 in ZNF407-Related Neurodevelopmental Disorder	1
ZNF408	zinc finger protein 408 in Familial Exudative Vitreoretinopathy	1
ZNF423	zinc finger protein 423 in Nephronophthisis	1
ZNF462	zinc finger protein 462 in Weiss-Kruszka Syndrome	1
ZNF513	zinc finger protein 513 in Hereditary Gingival Fibromatosis	1
ZNF526	zinc finger protein 526 in Dentici-Novelli neurodevelopmental syndrome	1
ZNF687	zinc finger protein 687 in Paget Disease of Bone	1
ZNF699	zinc finger protein 699 in DEGCAGS Syndrome	1
ZNF808	zinc finger protein 808 in Pancreatic Agenesis	1
ZNF862	zinc finger protein 862 in Hereditary Gingival Fibromatosis	1
ZNF91	zinc finger protein 91 in Benign Paroxysmal Positional Vertigo	1
ZNFX1	zinc finger NFX1-type containing 1 in Immunodeficiency 91 and Hyperinflammation	1
ZNRF3	in Tetraamelia Syndrome 2	1
ZP1	in Female_Infertility_Due_To_Zona_Pellucida_Defect	1
ZP2	in Female_Infertility_Due_To_Zona_Pellucida_Defect	1
ZP3	in Female_Infertility_Due_To_Zona_Pellucida_Defect	1
ZP4	in Female_Infertility_Due_To_Zona_Pellucida_Defect	1
ZPR1	ZPR1 zinc finger in Growth Restriction Hypoplastic Kidneys Alopecia And Distinctive Facies	1
ZSCAN10	zinc finger and SCAN domain containing 10 in Otofacial Neurodevelopmental Syndrome	1
ZSWIM7	zinc finger SWIM-type containing 7 in 46,XX Gonadal Dysgenesis	1
AXL	AXL receptor tyrosine kinase	0
CLASP2	cytoplasmic linker associated protein 2	0
CRLF2	cytokine receptor like factor 2	0
EFNB1	ephrin B1	0
EFNB2	ephrin B2	0
EFNB3	ephrin B3	0
ERMARD	ER membrane associated RNA degradation	0
HLA-E	major histocompatibility complex, class I, E	0
KIF5C	kinesin family member 5C	0
KLRC1	killer cell lectin like receptor C1	0
MLH3	mutL homolog 3	0
NMNAT2	nicotinamide nucleotide adenylyltransferase 2	0	function
PARG	poly(ADP-ribose) glycohydrolase	0
PARP10	poly(ADP-ribose) polymerase family member 10	0
PARP12	poly(ADP-ribose) polymerase family member 12	0
PARP14	poly(ADP-ribose) polymerase family member 14	0
PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	0
RAP1A	RAP1A, member of RAS oncogene family	0
SOCS3	suppressor of cytokine signaling 3	0	function
TBR1	T-box brain transcription factor 1	0
TIPARP	TCDD inducible poly(ADP-ribose) polymerase	0