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
Brucella Melitensis Brucellosis protective germline
Coal Workers Pneumoconiosis susceptibility germline
Otosclerosis susceptibility germline
mechanism: Dysregulated TGF-beta Signaling in the Otic Capsule
Androgenetic Alopecia no genetic record
mechanism: Increased TGF-Beta1 Secretion
Asthma no genetic record
mechanism: SIRT1-Mediated NAD+ Signaling and Protective Deacetylation
Chronic_Obstructive_Pulmonary_Disease no genetic record
mechanism: SIRT1-Mediated NAD+ Signaling and Protective Deacetylation
Fabry disease no genetic record
mechanism: Fibrosis and extracellular matrix remodeling
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
inflammatory bowel disease, immunodeficiency, and encephalopathy MONDO:0032601 AR Limited
2024-11-19
no dismech entry

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