TEK, TEK receptor tyrosine kinase, 7010

N. diseases: 300; N. variants: 17
Disease: Blue rubber bleb nevus syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0346072
Disease: Blue rubber bleb nevus syndrome
Blue rubber bleb nevus syndrome 		0.330 GeneticVariation disease BEFREE Soblet et al. describe cis mutations in TEK/Tie-2 in blue rubber bleb nevus and sporadic vascular malformations. 28010758 2017
CUI: C0346072
Disease: Blue rubber bleb nevus syndrome
Blue rubber bleb nevus syndrome 		0.330 GeneticVariation disease BEFREE We discovered somatic mutations in TEK, the gene encoding TIE2, in 15 of 17 individuals with blue rubber bleb nevus syndrome. 27519652 2017
CUI: C0346072
Disease: Blue rubber bleb nevus syndrome
Blue rubber bleb nevus syndrome 		0.330 SomaticCausalMutation disease ORPHANET T1105N-T1106P is recurrent in blue rubber bleb nevus, whereas Y897C-R915C is recurrent in sporadically occurring multifocal venous malformation: both cause ligand-independent activation of TIE2, and increase survival, invasion, and colony formation when expressed in human umbilical vein endothelial cells. 27519652 2017
CUI: C0346072
Disease: Blue rubber bleb nevus syndrome
Blue rubber bleb nevus syndrome 		0.330 GeneticVariation disease BEFREE TIE2 gain-of-function mutation in a patient with pancreatic lymphangioma associated with blue rubber-bleb nevus syndrome: report of a case. 16493543 2006