Annotation Detail
Information
- Associated Genes
- NR5A1
- Associated Variants
-
NR5A1 p.Pro129Leu (p.P129L)
(
ENST00000373588.9,
ENST00000620110.4 )
NR5A1 p.Gly123Ala (p.G123A) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Pro129Leu (p.P129L) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Gly123Ala (p.G123A) ( ENST00000373588.9, ENST00000620110.4 ) - Associated Disease
- PREMATURE OVARIAN FAILURE 7 (disorder)
- Source Database
- DisGeNET
- Description
- Mutations in NR5A1 associated with ovarian insufficiency.
- Pubmed
- 19246354
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2009
Drugs