CCM2, CCM2 scaffold protein, 83605

N. diseases: 50; N. variants: 20
Disease: Familial cerebral cavernous malformation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931263
Disease: Familial cerebral cavernous malformation
Familial cerebral cavernous malformation 		0.220 Biomarker disease MGD
CUI: C2931263
Disease: Familial cerebral cavernous malformation
Familial cerebral cavernous malformation 		0.220 GeneticVariation disease BEFREE Genetic investigations revealed constitutional mutations in FLCN, associated with Birt-Hogg-Dubé syndrome (BHD) and CCM2, associated with familial cerebral cavernous malformation. 27722904 2017
CUI: C2931263
Disease: Familial cerebral cavernous malformation
Familial cerebral cavernous malformation 		0.220 Biomarker disease BEFREE Familial cerebral cavernous malformation (FCCM) is a vascular malformation disorder that closely associated with three identified genes: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. 28160210 2017