Annotation Detail

Information
Associated Genes
KDR
Associated Variants
MMP14 p.Pro259= (p.P259=) ( ENST00000311852.11, ENST00000548162.2 )
CYP19A1 c.-39+12984A>G ( ENST00000396404.8, ENST00000557858.5, ENST00000396402.6 )
BCL2 c.586-83694G>C ( ENST00000333681.5, ENST00000398117.1 )
BCL2 c.586-83694G>A ( ENST00000333681.5, ENST00000398117.1 )
BCL2 c.586-86658C>T ( ENST00000333681.5, ENST00000398117.1 )
FLACC1 c.*300A>C ( ENST00000696069.1, ENST00000286190.9, ENST00000392257.8 )
GHRL p.Leu72Met (p.L72M) ( ENST00000287656.11, ENST00000335542.13, ENST00000422159.5, ENST00000429122.1, ENST00000430179.5, ENST00000437422.6, ENST00000439975.6, ENST00000446937.2, ENST00000449238.6, ENST00000457360.5 )
KDR c.976+1261G>A ( ENST00000263923.5 )
NOS3 c.-51-762C>T ( ENST00000297494.8, ENST00000461406.5 )
TNFRSF10A c.1088-1959G>A ( ENST00000221132.8, ENST00000613472.1 )
ABL1 c.136+39342A>G ( ENST00000372348.9 )
MMP14 p.Pro259= (p.P259=) ( ENST00000311852.11, ENST00000548162.2 )
CYP19A1 c.-39+12984A>G ( ENST00000396402.6, ENST00000396404.8, ENST00000557858.5 )
BCL2 c.586-83694G>C ( ENST00000333681.5, ENST00000398117.1 )
BCL2 c.586-83694G>A ( ENST00000333681.5, ENST00000398117.1 )
BCL2 c.586-86658C>T ( ENST00000333681.5, ENST00000398117.1 )
FLACC1 c.*300A>C ( ENST00000696069.1, ENST00000286190.9, ENST00000392257.8 )
GHRL p.Leu72Met (p.L72M) ( ENST00000287656.11, ENST00000335542.13, ENST00000422159.5, ENST00000429122.1, ENST00000430179.5, ENST00000437422.6, ENST00000439975.6, ENST00000446937.2, ENST00000449238.6, ENST00000457360.5 )
KDR c.976+1261G>A ( ENST00000263923.5 )
NOS3 c.-51-762C>T ( ENST00000297494.8, ENST00000461406.5 )
TNFRSF10A c.1088-1959G>A ( ENST00000221132.8, ENST00000613472.1 )
ABL1 c.136+39342A>G ( ENST00000372348.9 )
Associated Disease
Adenocarcinoma Of Esophagus
Source Database
DisGeNET
Description
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate).
Pubmed
21472143
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2011
Drugs