TEK, TEK receptor tyrosine kinase, 7010

N. diseases: 300; N. variants: 17
Disease: Congenital vascular anomaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1961121
Disease: Congenital vascular anomaly
Congenital vascular anomaly 		0.020 Biomarker group BEFREE This study provides new insights into spinal VMs, the association of Tie2 and vascular anomalies needs to be further discussed. 26115772 2015
CUI: C1961121
Disease: Congenital vascular anomaly
Congenital vascular anomaly 		0.020 GeneticVariation group BEFREE Recently, somatic mutations in exon 17 of the endothelial cell tyrosine kinase receptor Tie-2 (encoded by TEK) were identified in 49.1% of patients with common sporadic venous malformation, a subtype of vascular anomalies. 21962923 2011