RASA1, RAS p21 protein activator 1, 5921

N. diseases: 237; N. variants: 41
Disease: pathologic fistula ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016169
Disease: pathologic fistula
pathologic fistula 		0.010 GeneticVariation phenotype BEFREE Capillary malformation-arteriovenous malformation (CM-AVM) syndrome, due to inactivating mutations in RASA1 in 68% of cases, is characterized by the development of cutaneous capillary malformations and arteriovenous malformations or fistulas; no known genetic etiology has been identified in patients with CM-AVM syndrome without RASA1 mutations. 28730721 2017