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FHL1 - four and a half LIM domains 1
- Synonym(s) : bA535K18.1, FHL1B, FLH1A, Four-and-a-half LIM domains 1, KYO-T, LIM protein SLIMMER, MGC111107, SLIM1, XMPMA
- Previous symbols and names : _
- Type : gene with protein product
- Chromosomal location : Xq26.3
- OMIM: 300163
- HGNC: 3702
- UniProtKB: Q13642
- Genatlas: FHL1
- GenCC: FHL1
- Ensembl: ENSG00000022267
- IUPHAR-DB: -
- Reactome: Q13642
- LOVD: FHL1
Diseases list
- Disease-causing germline mutation(s) in NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
ORPHA:155 
- Disease-causing germline mutation(s) in Reducing body myopathy
ORPHA:97239 - Disease-causing germline mutation(s) in X-linked Emery-Dreifuss muscular dystrophy
ORPHA:98863 - Disease-causing germline mutation(s) in X-linked myopathy with postural muscle atrophy
ORPHA:178461 - Disease-causing germline mutation(s) in X-linked scapuloperoneal muscular dystrophy
ORPHA:431272
: AssessedAdditional information
Patient-centred resources for this gene
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