rs80338908, TEK

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
0.810 GeneticVariation BEFREE This result suggested that, like those in Caucasian families, the R849W mutation in TIE2 could be one of the major causes for VMCM in Asian families. 22621187 2012
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
0.810 GeneticVariation UNIPROT Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects. 19888299 2010
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
0.810 GeneticVariation UNIPROT Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. 19079259 2009
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
0.810 GeneticVariation UNIPROT Allelic and locus heterogeneity in inherited venous malformations. 10369874 1999
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
0.810 GeneticVariation UNIPROT Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. 8980225 1996
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
0.810 CausalMutation CLINVAR
Congenital abnormality of vein
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
Venous malformation
CUI: C0265950
Disease: Venous malformation
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
Venous malformation
CUI: C0265950
Disease: Venous malformation
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
Congenital abnormality of vein
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
Venous malformation
CUI: C0265950
Disease: Venous malformation
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
Congenital abnormality of vein
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
Venous malformation
CUI: C0265950
Disease: Venous malformation
0.050 GeneticVariation BEFREE Tie2-R849W mutant in venous malformations chronically activates a functional STAT1 to modulate gene expression. 18401423 2008
Congenital abnormality of vein
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
Congenital abnormality of vein
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
Venous malformation
CUI: C0265950
Disease: Venous malformation
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
Vascular anomaly
CUI: C0158570
Disease: Vascular anomaly
0.010 GeneticVariation BEFREE R849W Tie2 is the most common mutation implicated in an inherited form of vascular malformations and has been shown to be activating, though little is known about the kinetic features of catalysis. 30638931 2019
Adenoviral infections
CUI: C0851887
Disease: Adenoviral infections
0.010 GeneticVariation BEFREE In this study, we used adenoviral infection to differentiate the effects of ectopic Tie2 (wild type, kinase-dead K855A, or constitutively active R849W) expression on endothelial cellular behaviors and Tie2-mediated downstream targets. 18401423 2008
Hemangiomatosis
CUI: C1384590
Disease: Hemangiomatosis
0.010 GeneticVariation BEFREE The hemangiomatosis was segregated in the dominant fashion in her family, and a germ-line gain-of-function mutation (Arg849Trp) in TIE2 gene was confirmed. 16493543 2006