CCM2, CCM2 scaffold protein, 83605

N. diseases: 50; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1959589
Disease: Angioma, Cavernous
Angioma, Cavernous
0.020 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: C1959589
Disease: Angioma, Cavernous
Angioma, Cavernous
0.020 GeneticVariation disease BEFREE A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas. 25869611 2015