Annotation Detail

Information
Associated Genes
ELAC2
Associated Variants
ELAC2 p.Glu622Val (p.E622V) ( ENST00000426905.7, ENST00000395962.6, ENST00000338034.9 )
ELAC2 p.Glu622Gly (p.E622G) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
ELAC2 p.Glu622Val (p.E622V) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
ELAC2 p.Glu622Gly (p.E622G) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
Associated Disease
Prostate cancer, hereditary, 2
Source Database
DisGeNET
Description
ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer.
Pubmed
11507049
Original source reporting the Gene Disease association
UNIPROT
DisGENET score for the Gene Disease association
0.24
Year of publication
2001
Drugs