TEK, TEK receptor tyrosine kinase, 7010

N. diseases: 300; N. variants: 17
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: 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
dbSNP: rs80338908
rs80338908
Entrez Id: 7010
Gene Symbol: TEK
TEK
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
dbSNP: rs80338908
rs80338908
Entrez Id: 7010
Gene Symbol: TEK
TEK
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
dbSNP: rs80338908
rs80338908
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C1838437
Disease:
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.810 GeneticVariation UNIPROT Allelic and locus heterogeneity in inherited venous malformations. 10369874 1999
dbSNP: rs80338908
rs80338908
Entrez Id: 7010
Gene Symbol: TEK
TEK
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
dbSNP: rs80338908
rs80338908
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C1838437
Disease:
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		T 0.810 CausalMutation CLINVAR
dbSNP: rs387906745
rs387906745
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C1838437
Disease:
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.800 GeneticVariation UNIPROT Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects. 19888299 2010
dbSNP: rs80338909
rs80338909
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C1838437
Disease:
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.800 GeneticVariation UNIPROT Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects. 19888299 2010
dbSNP: rs387906745
rs387906745
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C1838437
Disease:
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.800 GeneticVariation UNIPROT Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. 19079259 2009
dbSNP: rs80338909
rs80338909
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C1838437
Disease:
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.800 GeneticVariation UNIPROT Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. 19079259 2009
dbSNP: rs387906745
rs387906745
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C1838437
Disease:
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.800 GeneticVariation UNIPROT Allelic and locus heterogeneity in inherited venous malformations. 10369874 1999
dbSNP: rs80338909
rs80338909
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C1838437
Disease:
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.800 GeneticVariation UNIPROT Allelic and locus heterogeneity in inherited venous malformations. 10369874 1999
dbSNP: rs387906745
rs387906745
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C1838437
Disease:
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.800 GeneticVariation UNIPROT Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. 8980225 1996
dbSNP: rs80338909
rs80338909
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C1838437
Disease:
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.800 GeneticVariation UNIPROT Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. 8980225 1996
dbSNP: rs387906745
rs387906745
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C1838437
Disease:
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		A 0.800 CausalMutation CLINVAR
dbSNP: rs80338909
rs80338909
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C1838437
Disease:
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		C 0.800 CausalMutation CLINVAR
dbSNP: rs80338909
rs80338909
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C1838437
Disease:
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1322052
rs1322052
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C1956346
Disease:
Coronary Artery Disease 		T 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs2273720
rs2273720
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs35030851
rs35030851
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs73643144
rs73643144
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C0234985
Disease:
Mental deterioration 		0.700 GeneticVariation GWASCAT Genetic architecture of age-related cognitive decline in African Americans. 28078323 2017
dbSNP: rs146169480
rs146169480
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C4310639
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, E 		0.700 GeneticVariation UNIPROT Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. 27270174 2016
dbSNP: rs202131936
rs202131936
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation CLINVAR Functional characterization of an activating TEK mutation in acute myeloid leukemia: a cellular context-dependent activating mutation. 19340004 2009
dbSNP: rs1306527531
rs1306527531
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C4310639
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, E 		0.700 GeneticVariation UNIPROT
dbSNP: rs1490428165
rs1490428165
Entrez Id: 7010
Gene Symbol: TEK
TEK
CUI: C1335177
Disease:
Ovarian Serous Adenocarcinoma 		0.700 GeneticVariation UNIPROT