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
- Malignant neoplasm of prostate
- 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
- 0.0957436285806576
- Year of publication
- 2004
Drugs