Annotation Detail

Information
Associated Genes
ESR1
Associated Variants
ESR1 p.Pro325= (p.P325=) ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000456483.3, ENST00000440973.5, ENST00000443427.5 )
ESR1 p.Pro325= (p.P325=) ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
Associated Disease
Sporadic Breast Carcinoma
Source Database
DisGeNET
Description
The estrogen receptor alpha C975G variant in familial and sporadic breast cancer: a case-control study.
Pubmed
16886637
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00488595369744546
Year of publication
2006
Drugs