Annotation Detail

Information
Associated Genes
AR
Associated Variants
SRD5A2 p.Ala88= (p.A88=) ( ENST00000622030.2 )
SRD5A2 p.Gln48= (p.Q48=) ( ENST00000622030.2 )
SRD5A2 p.Leu89Val (p.L89V) ( ENST00000622030.2 )
SRD5A2 p.Ala49Thr (p.A49T) ( ENST00000622030.2 )
Associated Disease
prostate carcinoma
Source Database
DisGeNET
Description
The aim of the present study was to evaluate the distribution of polymorphisms for the androgen receptor (AR) (CAG, StuI, GGN), SRD5A2 (Ala49Thr, Val89Leu) and CYP17 (MspA1) genes that are considered to be relevant for risk of prostate cancer.
Pubmed
11847524
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.08
Year of publication
2002
Drugs