Annotation Detail

Information
Associated Genes
ERBB4
Associated Variants
ERBB4 c.*6615G>A ( ENST00000342788.9, ENST00000436443.5 )
ERBB4 c.*5329A>G ( ENST00000342788.9, ENST00000436443.5 )
ERBB4 c.*6615G>A ( ENST00000342788.9, ENST00000436443.5 )
ERBB4 c.*5329A>G ( ENST00000342788.9, ENST00000436443.5 )
Associated Disease
Squamous cell carcinoma of esophagus
Source Database
DisGeNET
Description
The analysis of haplotypes in ErbB4 gene showed significant increased ESCC risk in G(rs1595066)C(rs16845990) and G(rs1595066)T(rs16845990) haplotypes (OR(adjusted): 1.46, 95 % CI: 1.08-1.99 and OR(adjusted): 1.33, 95 % CI: 1.10-1.62), and inversely reduced ESCC risk in A(rs1595066)C(rs16845990) and A(rs1595066)T(rs16845990) haplotypes with OR (95 % CI) of 0.75 (0.60-0.94) and 0.65 (0.49-0.86), respectively.
Pubmed
24916311
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2014
Drugs