TEK, TEK receptor tyrosine kinase, 7010

N. diseases: 300; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.730 Biomarker disease GENOMICS_ENGLAND Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations. 27519652 2017
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.730 Biomarker disease GENOMICS_ENGLAND Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations. 27519652 2017
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.730 GeneticVariation disease 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
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.730 GeneticVariation disease UNIPROT Overexpression of the new mutants resulted in ligand-independent hyperphosphorylation of the receptor, suggesting this is a general feature of VMCM-causative TIE2 mutations. 19888299 2010
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.730 GeneticVariation disease BEFREE Overexpression of the new mutants resulted in ligand-independent hyperphosphorylation of the receptor, suggesting this is a general feature of VMCM-causative TIE2 mutations. 19888299 2010
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.730 GeneticVariation disease UNIPROT Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. 19079259 2009
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.730 Biomarker disease BEFREE These genes include AGGF1 for Klippel-Trenaunay syndrome, RASA1 for capillary malformations, KRIT1, MGC4607, PDCD10 for cerebral cavernous malformations, glomulin for glomuvenous malformations, TIE2 for multiple cutaneous and mucosal venous malformations, VEGFR-3, FOXC2, NEMO, SOX18 for lymphedema or related syndromes, ENG, ACVRLK1, MADH4 for HHT or related syndromes, NDP for Coats' disease, Notch3 for CADASIL, and PTEN for Proteus Syndrome. 16379592 2005
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.730 Biomarker disease GENOMICS_ENGLAND Allelic and locus heterogeneity in inherited venous malformations. 10369874 1999
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.730 GeneticVariation disease UNIPROT Allelic and locus heterogeneity in inherited venous malformations. 10369874 1999
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.730 GeneticVariation disease UNIPROT Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. 8980225 1996
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.730 Biomarker disease CTD_human
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 		0.730 CausalMutation disease CLINVAR
CUI: C4310639
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, E
GLAUCOMA 3, PRIMARY CONGENITAL, E 		0.600 GeneticVariation disease UNIPROT Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. 27270174 2016
CUI: C4310639
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, E
GLAUCOMA 3, PRIMARY CONGENITAL, E 		0.600 Biomarker disease CTD_human
CUI: C4310639
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, E
GLAUCOMA 3, PRIMARY CONGENITAL, E 		0.600 CausalMutation disease CLINVAR
CUI: C0265950
Disease: Venous malformation
Venous malformation 		0.500 Biomarker disease BEFREE Gain-of-function mutations in the tyrosine kinase receptor TIE2 can cause VM and induce a ligand-independent hyperactivation of TIE2. 31451744 2019
CUI: C0265950
Disease: Venous malformation
Venous malformation 		0.500 GeneticVariation disease BEFREE A Tie2 kinase mutation causing venous malformations increases phosphorylation rates and enhances cooperativity. 30638931 2019
CUI: C0265950
Disease: Venous malformation
Venous malformation 		0.500 GeneticVariation disease BEFREE Moreover, c-ABL, common target of these inhibitors, was highly phosphorylated in HUVEC-TIE2-L914F and VM patient-derived ECs with activating TIE2 mutations. 30626204 2019
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein 		0.500 Biomarker group BEFREE Gain-of-function mutations in the tyrosine kinase receptor TIE2 can cause VM and induce a ligand-independent hyperactivation of TIE2. 31451744 2019
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein 		0.500 GeneticVariation group BEFREE Moreover, c-ABL, common target of these inhibitors, was highly phosphorylated in HUVEC-TIE2-L914F and VM patient-derived ECs with activating TIE2 mutations. 30626204 2019
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein 		0.500 GeneticVariation group BEFREE A Tie2 kinase mutation causing venous malformations increases phosphorylation rates and enhances cooperativity. 30638931 2019
CUI: C0265950
Disease: Venous malformation
Venous malformation 		0.500 GeneticVariation disease BEFREE Activating somatic TIE2 gene mutations have been identified in up to 60% of VMs and PIK3CA mutations have been found in another 25%. 29786783 2018
CUI: C0265950
Disease: Venous malformation
Venous malformation 		0.500 GeneticVariation disease 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
CUI: C0265950
Disease: Venous malformation
Venous malformation 		0.500 Biomarker disease BEFREE Recent studies have identified genetic defects that result in the constantly active endothelial cell receptor tyrosine kinase TIE2/phosphoinositide 3-kinase PI3K signalling pathway as a frequent cause for VMs. 29668117 2018
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein 		0.500 Biomarker group BEFREE Recent studies have identified genetic defects that result in the constantly active endothelial cell receptor tyrosine kinase TIE2/phosphoinositide 3-kinase PI3K signalling pathway as a frequent cause for VMs. 29668117 2018