Annotation Detail
Information
- Associated Genes
- SRD5A2
- Associated Variants
-
SRD5A2 p.Ala88= (p.A88=)
(
ENST00000622030.2 )
SRD5A2 p.Leu89Val (p.L89V) ( ENST00000622030.2 ) - Associated Disease
- Congenital hypoplasia of penis
- Source Database
- DisGeNET
- Description
- Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.
- Pubmed
- 12843198
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2003
Drugs