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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 Autosomal dominant myosin storage myopathy
ORPHA:636965 - Disease-causing germline mutation(s) in Autosomal recessive myosin storage myopathy
ORPHA:636970 - 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 Laing early-onset distal myopathy
ORPHA:59135 - Disease-causing germline mutation(s) in Left ventricular noncompaction
ORPHA:54260 - Disease-causing germline mutation(s) in NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
ORPHA:155

Additional information
Patient-centred resources for this gene
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