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
Dilated Cardiomyopathy 1CC causative
mechanism: Nexilin Loss of Function
Hypertrophic Cardiomyopathy 20 causativedisputed germline
mechanism: NEXN Missense Variants Impair Nexilin F-Actin Binding
Dilated Cardiomyopathy untyped
Pathogenic Variants
mechanism: Sarcomeric and Cytoskeletal Dysfunction
Hypertrophic Cardiomyopathy untyped
Pathogenic Variants
mechanism: Sarcomere Protein Mutations
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 Limited
2023-03-23
dilated cardiomyopathy 1CC MONDO:0013147 AD Strong
2026-03-04
Mechanism modules · computed from kb/

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