Annotation Detail
Information
- Associated Genes
- NR5A1
- Associated Variants
-
NR5A1 p.Asp293Asn (p.D293N)
(
ENST00000620110.4,
ENST00000373588.9 )
NR5A1 p.Asp293Asn (p.D293N) ( ENST00000620110.4, ENST00000373588.9 ) - Associated Disease
- Adrenal gland hypofunction
- Source Database
- DisGeNET
- Description
- Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure.
- Pubmed
- 20453312
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.128067311292288
- Year of publication
- 2010
Drugs