Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
0.010 GeneticVariation disease BEFREE Capillary malformation-arteriovenous malformation (CM-AVM) is a blood and lymphatic vessel (LV) disorder that is caused by inherited inactivating mutations of the RASA1 gene, which encodes p120 RasGAP (RASA1), a negative regulator of the Ras small GTP-binding protein. 28530642 2017