Annotation Detail
Information
- Associated Genes
- AR
- Associated Variants
-
AR p.Glu654Lys (p.E654K)
(
ENST00000374690.9,
ENST00000396044.8 )
AR p.Glu654Lys (p.E654K) ( ENST00000374690.9, ENST00000396044.8 ) - Associated Disease
- Congenital malformation of genital organs
- Source Database
- DisGeNET
- Description
- We conclude that AR gene mutations or polymorphisms are not a common factor influencing the degree of hyperandrogenic symptoms displayed by CAH girls, and that the AR E653K mutation is compatible with normal genital development, although it can cause genital malformations in susceptible individuals.
- Pubmed
- 12050225
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2002
Drugs