CCM2, CCM2 scaffold protein, 83605

N. diseases: 50; N. variants: 20
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4747394
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. 14624391 2003