CCM2, CCM2 scaffold protein, 83605

N. diseases: 50; N. variants: 20
Disease: Multiple fibrofolliculomas ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		0.010 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