TEK, TEK receptor tyrosine kinase, 7010

N. diseases: 300; N. variants: 17
Disease: Congenital abnormality of vein ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338908
rs80338908
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C2937220
Disease:
Congenital abnormality of vein 		0.050 GeneticVariation BEFREE A <i>TIE2</i> mutation causing arginine-to-tryptophan substitution at residue 849 (<i>TIE2-R849W</i>) is commonly identified in heredofamilial venous malformation. 29511374 2018
dbSNP: rs80338908
rs80338908
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C2937220
Disease:
Congenital abnormality of vein 		0.050 GeneticVariation BEFREE In 1996, an arginine-to-tryptophan substitution at position 849 (R849W) in TIE2 was found to induce hereditary VM. 28818232 2017
dbSNP: rs80338908
rs80338908
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C2937220
Disease:
Congenital abnormality of vein 		0.050 GeneticVariation BEFREE STAT1 activation by venous malformations mutant Tie2-R849W antagonizes VEGF-A-mediated angiogenic response partly via reduced bFGF production. 23086340 2013
dbSNP: rs80338908
rs80338908
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C2937220
Disease:
Congenital abnormality of vein 		0.050 GeneticVariation BEFREE Tie2-R849W mutant in venous malformations chronically activates a functional STAT1 to modulate gene expression. 18401423 2008
dbSNP: rs80338908
rs80338908
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C2937220
Disease:
Congenital abnormality of vein 		0.050 GeneticVariation BEFREE A missense mutation resulting in an arginine-to-tryptophan substitution at position 849 in the kinase domain of the receptor tyrosine kinase TIE2 segregates with dominantly inherited VM in two unrelated families. 8980225 1996