Annotation Detail
Information
- Associated Genes
- NR5A1
- Associated Variants
-
NR5A1 p.Gly35Glu (p.G35E)
(
ENST00000373588.9,
ENST00000620110.4 )
NR5A1 p.Gly35Glu (p.G35E) ( ENST00000373588.9, ENST00000620110.4 ) - Associated Disease
- Adrenal gland hypofunction
- Source Database
- DisGeNET
- Description
- Not long ago, a mutation (G35E) in the human SF-1 gene was identified as the cause of sex reversal and adrenal failure in a phenotypically female but genotypically XY individual.
- Pubmed
- 12907682
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.128067311292288
- Year of publication
- 2003
Drugs