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GH1 - growth hormone 1
- Synonym(s) : GH, GHN, GH-N, hGH-N, pituitary growth hormone, somatotropin
- Previous symbols and names : _
- Type : gene with protein product
- Chromosomal location : 17q23.3
- OMIM: 139250
- HGNC: 4261
- UniProtKB: P01241
- Genatlas: GH1
- GenCC: GH1
- Ensembl: ENSG00000259384
- IUPHAR-DB: -
- Reactome: P01241
- LOVD: GH1
Diseases list
- Disease-causing germline mutation(s) in Isolated growth hormone deficiency type IA
ORPHA:231662 
- Disease-causing germline mutation(s) in Isolated growth hormone deficiency type IB
ORPHA:231671 - Disease-causing germline mutation(s) in Isolated growth hormone deficiency type II
ORPHA:231679 - Disease-causing germline mutation(s) in Short stature due to growth hormone qualitative anomaly
ORPHA:629
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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