Annotation Detail

Information
Associated Genes
NKX2-1
Associated Variants
FOXE1 p.Ala178_Ala179del (p.A178_A179del) ( ENST00000375123.5 )
FOXE1 p.Ala178_Ala179del (p.A178_A179del) ( ENST00000375123.5 )
rs944289
rs965513
FOXE1 c.-283A>G ( ENST00000375123.5 )
rs944289
rs965513
FOXE1 c.-283A>G ( ENST00000375123.5 )
Associated Disease
differentiated thyroid gland carcinoma
Source Database
DisGeNET
Description
Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per A allele = 1.6, 95% CI: 1.2-2.1), and three polymorphisms near or within FOXE1, namely rs965513 (OR per A allele = 1.7, 95% CI: 1.2-2.3), rs1867277 in the promoter region of the gene (OR per A allele = 1.5, 95% CI: 1.1-1.9) and the poly-alanine tract expansion polymorphism rs71369530 (OR per Long Allele = 1.8, 95% CI: 1.3-2.5), only the 2 latter remaining significant when correcting for multiple tests.
Pubmed
25879635
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00108576748832121
Year of publication
2015
Drugs