rs80338908, TEK

N. diseases: 6
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL ×
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