MYH7

myosin heavy chain 7

11 disorders 5 causative 4 untyped 1 unknown 1 cooperating 14q11.2 gene with protein product

HGNC:7577 Monarch NCBI Gene 4625 ENSG00000092054 UniProt P12883 OMIM 160760

Previous symbols: CMH1, MPD1. Aliases: CMD1S.

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
arrhythmogenic right ventricular cardiomyopathy	unknown germline
Dilated Cardiomyopathy 1S	causative	mechanism: MYH7 Missense Variant Causing Diminished Contractile Function
Ebstein Anomaly	causative germline	subtype: MYH7-LVNC scoped to subtype: MYH7-LVNC
Hypertrophic Cardiomyopathy 1	causative	mechanism: MYH7 Missense Variant in Beta-Cardiac Myosin Heavy Chain
Hypertrophic Cardiomyopathy 3	cooperating
Multiminicore Disease	causative	mechanism: Sarcomeric protein defect (TTN, MYH7) subtype: Other scoped to subtype: Other
Restrictive Cardiomyopathy	causative	mechanism: Sarcomeric or Cytoskeletal Variant with Increased Myofilament Tension
Dilated Cardiomyopathy	untyped Causative	mechanism: Sarcomeric and Cytoskeletal Dysfunction
Heart Failure	untyped Causative
Hypertrophic Cardiomyopathy	untyped Pathogenic Variants	mechanism: Sarcomere Protein Mutations
Left ventricular noncompaction	untyped Pathogenic Variants	mechanism: Genetic perturbation of cardiomyocyte structural programs

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	AD	Definitive 2023-07-12	Hypertrophic Cardiomyopathy untyped
congenital heart disease MONDO:0005453	AD	Limited 2024-02-12	Congenital Heart Disease not named
MYH7-related skeletal myopathy MONDO:0008050	AD	Definitive 2021-05-13	no dismech entry
dilated cardiomyopathy 1S MONDO:0013262	AD	Definitive 2026-03-04	Dilated Cardiomyopathy 1S causative
arrhythmogenic right ventricular cardiomyopathy MONDO:0016587	AD	Limited 2019-08-06	arrhythmogenic right ventricular cardiomyopathy unknown

Mechanism modules · computed from kb/

cardiomyopathy_maladaptive_remodeling via Dilated Cardiomyopathy 1S, Hypertrophic Cardiomyopathy 1, Restrictive Cardiomyopathy

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