CCM2, CCM2 scaffold protein, 83605

N. diseases: 50; N. variants: 20
Disease: Hemangioma, Cavernous ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018920
Disease: Hemangioma, Cavernous
Hemangioma, Cavernous 		0.110 Biomarker disease BEFREE Cavernous angioma (CA) is a vascular pathology caused by loss of function in one of the 3 CA genes (CCM1, CCM2, and CCM3) that result in rho kinase (ROCK) activation. 31446620 2019
CUI: C0018920
Disease: Hemangioma, Cavernous
Hemangioma, Cavernous 		0.110 CausalMutation disease CLINVAR