TEK, TEK receptor tyrosine kinase, 7010

N. diseases: 300; N. variants: 17
Disease: Vascular anomaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.050 GeneticVariation phenotype 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
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.050 GeneticVariation phenotype BEFREE Soblet et al. describe cis mutations in TEK/Tie-2 in blue rubber bleb nevus and sporadic vascular malformations. 28010758 2017
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.050 AlteredExpression phenotype BEFREE In addition, we showed that Tie2 mRNA expression in spinal VMs was similar to soft tissue VMs, but obviously lower than infant hemangiomas (P<0.01). 26115772 2015
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.050 GeneticVariation phenotype BEFREE Our results identified two novel Tie2 gene polymorphisms with genetic susceptibility to VMs, although future functional validation of the two polymorphisms is warranted in the future. 23566851 2013
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.050 GeneticVariation phenotype BEFREE Somatic mutations in exon 17 of the TEK gene in vascular tumors and vascular malformations. 21962923 2011