Annotation Detail

Information
Associated Genes
POU5F1B
Associated Variants
rs944289
EPHB1 c.1298-6543C>G ( ENST00000398015.8, ENST00000493838.1, ENST00000647596.1 )
rs6983267 ( ENST00000645438.1 )
rs2439302 ( ENST00000287842.7, ENST00000356819.7, ENST00000405005.8, ENST00000519301.6, ENST00000520407.5, ENST00000521670.5, ENST00000523079.5, ENST00000650919.1, ENST00000650967.1, ENST00000650980.1, ENST00000652588.1, ENST00000652698.1 )
FOXE1 c.-283A>G ( ENST00000375123.5 )
rs944289
EPHB1 c.1298-6543C>G ( ENST00000398015.8, ENST00000493838.1, ENST00000647596.1 )
rs6983267 ( ENST00000645438.1 )
rs2439302 ( ENST00000287842.7, ENST00000356819.7, ENST00000405005.8, ENST00000519301.6, ENST00000520407.5, ENST00000521670.5, ENST00000523079.5, ENST00000650919.1, ENST00000650967.1, ENST00000650980.1, ENST00000652588.1, ENST00000652698.1 )
FOXE1 c.-283A>G ( ENST00000375123.5 )
Associated Disease
Papillary thyroid carcinoma
Source Database
DisGeNET
Description
In a multicenter retrospective case-control study, five thyroid cancer-related SNPs-rs966513 (9q22.33, FOXE1), rs944289 (14q13.3, PTCSC3), rs2439302 (8p12, NRG1), rs1867277 (9q22.23, FOXE1), and rs6983267 (8q24, POU5F1B)-were genotyped in 959 cases of histologically verified FA, 535 papillary thyroid carcinomas (PTC), and 2766 population controls.
Pubmed
25562676
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2015
Drugs