Annotation Detail

Information
Associated Genes
KLK3
Associated Variants
KLK3 p.Leu132Ile (p.L132I) ( ENST00000326003.7, ENST00000360617.7, ENST00000593997.5, ENST00000595952.5, ENST00000597483.5 )
KLK3 p.Leu132Phe (p.L132F) ( ENST00000326003.7, ENST00000360617.7, ENST00000593997.5, ENST00000595952.5, ENST00000597483.5 )
SRD5A2 p.Ala88= (p.A88=) ( ENST00000622030.2 )
KLK3 p.Leu132Ile (p.L132I) ( ENST00000326003.7, ENST00000360617.7, ENST00000593997.5, ENST00000595952.5, ENST00000597483.5 )
KLK3 p.Leu132Phe (p.L132F) ( ENST00000326003.7, ENST00000360617.7, ENST00000593997.5, ENST00000595952.5, ENST00000597483.5 )
SRD5A2 p.Leu89Val (p.L89V) ( ENST00000622030.2 )
Associated Disease
Neoplasm Metastasis
Source Database
DisGeNET
Description
There was an association with SRD5A2 V89L LL genotype and metastases at the time of diagnosis, OR 5.67 (95% CI 1.44-22.30) when adjusted for age, differentiation grade, T-stage and prostate specific antigen.
Pubmed
12042668
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0213679630242233
Year of publication
2002
Drugs