Annotation Detail

Information
Associated Genes
BABAM1
Associated Variants
BABAM1 p.Lys279= (p.K279=), ENSG00000269307 c.*400+1986G>A ( ENST00000359435.8, ENST00000447614.6, ENST00000595632.5, ENST00000598188.6, ENST00000601043.5 )
BABAM1 p.Lys279= (p.K279=), ENSG00000269307 c.*400+1986G>A ( ENST00000359435.8, ENST00000447614.6, ENST00000595632.5, ENST00000598188.6, ENST00000601043.5 )
Associated Disease
ovarian neoplasm
Source Database
DisGeNET
Description
[Expression analysis of candidate genes at this locus in ovarian tumors supported a role for the BRCA1-interacting gene C19orf62, also known as MERIT40, which contains rs8170, in EOC development.]
Pubmed
20852633
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.122638473850682
Year of publication
2010
Drugs