Annotation Detail

Information
Associated Genes
ECHDC1
Associated Variants
rs2180341 ( ENST00000608991.5 )
rs2180341 ( ENST00000608991.5 )
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
[Candidate genes in the 6q22.33 region include ECHDC1, which encodes a protein involved in mitochondrial fatty acid oxidation, and also RNF146, which encodes a ubiquitin protein ligase, both known pathways in breast cancer pathogenesis.]
Pubmed
18326623
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.00527694770136467
Year of publication
2008
Drugs