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
MYPN-Related Cardiomyopathy causative germline unknown
mechanism: MYPN Variant Altering Myopalladin
subtype: CMD1KK; CMH22; CMR4
Nemaline Myopathy causative
mechanism: Z-Disc Scaffold Loss (MYPN)
subtype: NEM11
Restrictive Cardiomyopathy causative
Dilated Cardiomyopathy untyped
Pathogenic Variants
mechanism: Sarcomeric and Cytoskeletal Dysfunction
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 Disputed
2023-06-14
dilated cardiomyopathy 1KK MONDO:0014100 AD Limited
2026-03-04
MYPN-related myopathy MONDO:0015023 AR Definitive
2020-06-17
Mechanism modules · computed from kb/

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