Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1841984
Disease: GLOMUVENOUS MALFORMATIONS
GLOMUVENOUS MALFORMATIONS
0.010 GeneticVariation disease BEFREE Here, we show that Glomulin (Glmn), a protein found mutated in the vascular disorder glomuvenous malformation (GVM), binds directly to the RING domain of Rbx1 and inhibits its E3 ubiquitin ligase activity. 22405651 2012