KLHL24 - 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
KLHL24-Related Hypertrophic Cardiomyopathy	causative	mechanism: Biallelic Loss-of-Function KLHL24 Variants; Loss of CUL3-KLHL24 Substrate Adaptor Function
Epidermolysis Bullosa Simplex	untyped Causative	mechanism: KLHL24 Gain-of-Function Drives Ubiquitin-Mediated Keratin 14 Degradation subtype: EBS KLHL24 scoped to subtype: EBS KLHL24
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 disease	MOI	Classification	dismech entry
hypertrophic cardiomyopathy MONDO:0005045	AR	Moderate 2023-09-28	Hypertrophic Cardiomyopathy untyped

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