Annotation Detail
Information
- Associated Genes
- HIF1AN
- Associated Variants
-
HIF1AN p.Pro41Ala (p.P41A)
(
ENST00000299163.7 )
FLT1 c.3286+76A>G ( ENST00000282397.9 )
FLT1 c.2796+1089G>A ( ENST00000282397.9 )
FLT1 c.2248+2084T>C ( ENST00000282397.9 )
FLT1 c.2117-1008A>T ( ENST00000282397.9 )
FLT1 c.2117-1008A>C ( ENST00000282397.9 )
TSC2 p.Phe860= (p.F860=) ( ENST00000401874.7, ENST00000439673.6, ENST00000219476.9, ENST00000382538.10, ENST00000568454.6, ENST00000350773.9, ENST00000643088.1, ENST00000642206.2, ENST00000642365.2, ENST00000642561.1, ENST00000642797.1, ENST00000642936.1, ENST00000643946.1, ENST00000644043.1, ENST00000644329.1, ENST00000644335.1, ENST00000645186.2, ENST00000646388.1 )
ENSG00000282278 c.1018-48466T>C
KDR c.976+1261G>A ( ENST00000263923.5 )
PDGFRB c.-6-4622C>T ( ENST00000261799.9 )
HIF1AN p.Pro41Ala (p.P41A) ( ENST00000299163.7 )
FLT1 c.3286+76A>G ( ENST00000282397.9 )
FLT1 c.2796+1089G>A ( ENST00000282397.9 )
FLT1 c.2248+2084T>C ( ENST00000282397.9 )
FLT1 c.2117-1008A>T ( ENST00000282397.9 )
FLT1 c.2117-1008A>C ( ENST00000282397.9 )
TSC2 p.Phe860= (p.F860=) ( ENST00000219476.9, ENST00000350773.9, ENST00000382538.10, ENST00000401874.7, ENST00000439673.6, ENST00000568454.6, ENST00000642206.2, ENST00000642365.2, ENST00000642561.1, ENST00000642797.1, ENST00000642936.1, ENST00000643088.1, ENST00000643946.1, ENST00000644043.1, ENST00000644329.1, ENST00000644335.1, ENST00000645186.2, ENST00000646388.1 )
ENSG00000282278 c.1018-48466T>C
KDR c.976+1261G>A ( ENST00000263923.5 )
PDGFRB c.-6-4622C>T ( ENST00000261799.9 ) - Associated Disease
- Adenocarcinoma Of Esophagus
- Source Database
- DisGeNET
- Description
- In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).
- Pubmed
- 21751195
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2012
Drugs