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NR5A1 - nuclear receptor subfamily 5 group A member 1
- Synonym(s) : AD4BP, ELP, FTZ1, hSF-1, SF1, SF-1, steroidogenic factor 1
- Previous symbols and names : FTZF1, nuclear receptor subfamily 5, group A, member 1
- Type : gene with protein product
- Chromosomal location : 9q33.3
- OMIM: 184757
- HGNC: 7983
- UniProtKB: Q13285
- Genatlas: NR5A1
- Ensembl: ENSG00000136931
- IUPHAR-DB: 632
- Reactome: Q13285
- LOVD: NR5A1
Diseases list
- Disease-causing germline mutation(s) in 46,XX gonadal dysgenesis
ORPHA:243 
- Disease-causing germline mutation(s) in 46,XY complete gonadal dysgenesis
ORPHA:242 - Disease-causing germline mutation(s) in 46,XY partial gonadal dysgenesis
ORPHA:251510 - Disease-causing germline mutation(s) in Male infertility with azoospermia or oligozoospermia due to single gene mutation
ORPHA:399805 - Disease-causing germline mutation(s) (loss of function) in 46,XX ovotesticular disorder of sex development
ORPHA:2138 - Disease-causing germline mutation(s) (loss of function) in 46,XX testicular disorder of sex development
ORPHA:393 - Disease-causing germline mutation(s) (loss of function) in NON RARE IN EUROPE: Primary ovarian failure
ORPHA:619
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
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