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
Hypertrophic Cardiomyopathy causative germline
mechanism: Sarcomere Protein Mutations
Hypertrophic Cardiomyopathy 28 causativerisk factorsusceptibility germline unknown
mechanism: Heterozygous FHOD3 Non-Truncating Variant; Perturbed FHOD3-Directed Actin Assembly in the Cardiac Sarcomere
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
hypertrophic cardiomyopathy MONDO:0005045 AD Definitive
2023-09-29

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