ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.010 GeneticVariation disease BEFREE Based on the clinical overlap of CM-AVM2 and HHT, we hypothesized that patients considered clinically suspicious for HHT with no variant detected in an HHT gene (ENG, ACVRL1, or SMAD4) may have an EPHB4 variant. 30760892 2019