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 STAT1 activation by venous malformations mutant Tie2-R849W antagonizes VEGF-A-mediated angiogenic response partly via reduced bFGF production. 23086340 2013
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein
0.020 GeneticVariation group BEFREE Tie2-R849W mutant in venous malformations chronically activates a functional STAT1 to modulate gene expression. 18401423 2008