Search for a gene
MYH7 - myosin heavy chain 7
- Synonym(s) : CMD1S
- Previous symbols and names : CMH1, MPD1, myopathy, distal 1, myosin, heavy polypeptide 7, cardiac muscle, beta
- Type : gene with protein product
- Chromosomal location : 14q11.2
- OMIM: 160760
- HGNC: 7577
- UniProtKB: P12883
- Genatlas: MYH7
- GenCC: MYH7
- Ensembl: ENSG00000092054
- IUPHAR-DB: -
- Reactome: P12883
- LOVD: MYH7
Diseases list
- Disease-causing germline mutation(s) in Classic multiminicore myopathy
ORPHA:324604 
- Disease-causing germline mutation(s) in Ebstein malformation of the tricuspid valve
ORPHA:1880 - Disease-causing germline mutation(s) in Familial isolated dilated cardiomyopathy
ORPHA:154 - Disease-causing germline mutation(s) in Hyaline body myopathy
ORPHA:53698 - Disease-causing germline mutation(s) in Laing early-onset distal myopathy
ORPHA:59135 - Disease-causing germline mutation(s) in Left ventricular noncompaction
ORPHA:54260 - Disease-causing germline mutation(s) in MYH7-related late-onset scapuloperoneal muscular dystrophy
ORPHA:437572 - Disease-causing germline mutation(s) in NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
ORPHA:155
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.