MYOZ2

myozenin 2

2 disorders 2 disputed 4q26 gene with protein product

HGNC:1330 Monarch NCBI Gene 51778 ENSG00000172399 UniProt Q9NPC6 OMIM 605602

Previous symbols: C4orf5. Aliases: CS-1, FATZ-2.

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
Hypertrophic Cardiomyopathy	disputed
Hypertrophic Cardiomyopathy 16	disputed	mechanism: MYOZ2 Missense Variant in Calsarcin-1

ClinGen gene–disease validity · snapshot 2026-10-24 · 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	AD	Disputed 2022-10-27	Hypertrophic Cardiomyopathy disputed

Mechanism modules · computed from kb/

cardiomyopathy_maladaptive_remodeling via Hypertrophic Cardiomyopathy 16

Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.