JPH2 - dismech genes

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.

Disorder	Relationship	Where the gene appears
Dilated Cardiomyopathy 2E	causative germline loss of function CLINGEN: strong	mechanism: JPH2 Loss of Function
Left ventricular noncompaction	unknown
Dilated Cardiomyopathy	untyped Pathogenic Variants	mechanism: Cardiomyocyte Calcium Release Dysregulation
Hypertrophic Cardiomyopathy	untyped Pathogenic Variants	mechanism: Altered Calcium Handling
Hypertrophic Cardiomyopathy 17	untyped Causal

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 disease	MOI	Classification	dismech entry
dilated cardiomyopathy MONDO:0005021	AD	Limited 2025-01-24	Dilated Cardiomyopathy untyped
hypertrophic cardiomyopathy MONDO:0005045	AD	Moderate 2022-10-12	Hypertrophic Cardiomyopathy untyped
cardiomyopathy, dilated, 2E MONDO:0030366	AR	Strong 2026-03-04	Dilated Cardiomyopathy 2E causative

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