CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Disease: Malattia Leventinese ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852020
Disease: Malattia Leventinese
Malattia Leventinese 		0.300 GermlineCausalMutation disease ORPHANET Basal laminar drusen caused by compound heterozygous variants in the CFH gene. 18252232 2008