In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Celiac Disease susceptibility
Ankylosing Spondylitis untyped
GWAS
Asthma untyped
GWAS
Atopic Dermatitis untyped
GWAS
Crohn Disease untyped
GWAS
Multiple Sclerosis untyped
GWAS
Psoriasis untyped
GWAS
Rheumatoid Arthritis untyped
GWAS
Systemic Lupus Erythematosus untyped
GWAS
Ulcerative Colitis untyped
GWAS
Bleeding disorder, platelet-type, 21 no genetic record
mechanism: ETS1 Derepression
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen diseaseMOIClassificationdismech entry
congenital heart disease MONDO:0005453 AD Moderate
2026-07-14

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.