Annotation Detail

Information
Associated Genes
CYP17A1
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 prostate is an androgen-regulated organ and polymorphisms in genes involved in testosterone synthesis, in particular, SRD5A2 (A49T and V89L variants), CYP17 (MspAI variant), and the AR (CAG, GGC repeats), represent candidate risk factors for prostate cancer incidence and aggressiveness.
Pubmed
14991867
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0157436285806576
Year of publication
2004
Drugs