Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency 		0.800 GermlineCausalMutation ORPHANET

Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0268743
Disease: Membranoproliferative Glomerulonephritis, Type II
Membranoproliferative Glomerulonephritis, Type II 		0.700 GermlineCausalMutation ORPHANET Gene polymorphism of complement factor H in a Turkish patient with membranoproliferative glomerulonephritis type II. 22388616

2012
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0268742
Disease: Membranoproliferative Glomerulonephritis, Type I
Membranoproliferative Glomerulonephritis, Type I 		0.520 GermlineCausalMutation ORPHANET Heterogeneous pattern of renal disease associated with homozygous factor H deficiency. 21396679

2011
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C1720821
Disease: Membranoproliferative Glomerulonephritis, Type III
Membranoproliferative Glomerulonephritis, Type III 		0.500 GermlineCausalMutation ORPHANET Heterogeneous pattern of renal disease associated with homozygous factor H deficiency. 21396679

2011
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0162739
Disease: HELLP Syndrome
HELLP Syndrome 		0.320 GeneticVariation ORPHANET The coding sequences and intron-exon boundaries of the complement factor H (CFH), complement factor I (CFI), Membrane Cofactor Protein (MCP), complement factor B (CFB) and C3 were sequenced in 33 women with a diagnosis of HELLP syndrome. 22594569

2012
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0162739
Disease: HELLP Syndrome
HELLP Syndrome 		0.320 GeneticVariation ORPHANET Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome. 18658028

2008
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C1832174
Disease: DOYNE HONEYCOMB RETINAL DYSTROPHY
DOYNE HONEYCOMB RETINAL DYSTROPHY 		0.300 GermlineCausalMutation ORPHANET Basal laminar drusen caused by compound heterozygous variants in the CFH gene. 18252232

2008
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C1852020
Disease: Malattia Leventinese
Malattia Leventinese 		0.300 GermlineCausalMutation ORPHANET Basal laminar drusen caused by compound heterozygous variants in the CFH gene. 18252232

2008
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C1852021
Disease: Drusen, Radial, Autosomal Dominant
Drusen, Radial, Autosomal Dominant 		0.300 GermlineCausalMutation ORPHANET Basal laminar drusen caused by compound heterozygous variants in the CFH gene. 18252232

2008