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NR0B1 - nuclear receptor subfamily 0 group B member 1
- Synonym(s) : AHCH, DAX1
- Previous symbols and names : AHC, DSS, dosage-sensitive sex reversal, nuclear receptor subfamily 0, group B, member 1
- Type : gene with protein product
- Chromosomal location : Xp21.2
- OMIM: 300473
- HGNC: 7960
- UniProtKB: P51843
- Genatlas: NR0B1
- Ensembl: ENSG00000169297
- IUPHAR-DB: 635
- Reactome: P51843
- LOVD: NR0B1
Diseases list
- Disease-causing germline mutation(s) (loss of function) in X-linked adrenal hypoplasia congenita
ORPHA:95702 
- Role in the phenotype of 46,XX testicular disorder of sex development
ORPHA:393 - Role in the phenotype of 46,XY complete gonadal dysgenesis
ORPHA:242 - Role in the phenotype of 46,XY partial gonadal dysgenesis
ORPHA:251510
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
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