Annotation Detail
Information
- Associated Genes
- NR5A1
- Associated Variants
-
NR5A1 p.Gly212Ser (p.G212S)
(
ENST00000373588.9,
ENST00000620110.4 )
NR5A1 p.Gly212Ser (p.G212S) ( ENST00000373588.9, ENST00000620110.4 ) - Associated Disease
- spermatogenic failure 8
- Source Database
- DisGeNET
- Description
- Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
- Pubmed
- 20887963
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- 2010
Drugs