Annotation Detail

Information
Associated Genes
GGN
Associated Variants
SRD5A2 p.Glu227Lys (p.E227K) ( ENST00000622030.2 )
SRD5A2 p.Ala88= (p.A88=) ( ENST00000622030.2 )
SRD5A2 p.Gln48= (p.Q48=) ( ENST00000622030.2 )
SRD5A2 p.Arg227Gln (p.R227Q) ( ENST00000622030.2 )
SRD5A2 p.Leu89Val (p.L89V) ( ENST00000622030.2 )
SRD5A2 p.Ala49Thr (p.A49T) ( ENST00000622030.2 )
Associated Disease
Benign Prostatic Hyperplasia
Source Database
DisGeNET
Description
The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hormone status was investigated in men with prostate cancer (CaP) (n=89), benign prostate hyperplasia (n=45) and healthy military conscripts (n=223).
Pubmed
16039774
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2005
Drugs