Disease: Congenital abnormality of vein ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein 		0.020 GeneticVariation group BEFREE Most VMs are associated with the activating mutation L914F in the endothelial cell (EC) tyrosine kinase receptor TIE2. 30626204 2019
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein 		0.020 GeneticVariation group BEFREE Mutations in the endothelial cell (EC) tyrosine kinase receptor TIE2 cause inherited and sporadic forms of venous malformation. 23633549 2013