CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Disease: Complement Factor H Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913059
rs121913059
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121913059
rs121913059
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		0.800 GeneticVariation UNIPROT
dbSNP: rs575109631
rs575109631
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		0.700 GeneticVariation UNIPROT Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). 16612335 2006
dbSNP: rs62625015
rs62625015
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		0.700 GeneticVariation UNIPROT Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). 16612335 2006
dbSNP: rs575109631
rs575109631
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		0.700 GeneticVariation UNIPROT Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. 14978182 2004
dbSNP: rs62625015
rs62625015
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		0.700 GeneticVariation UNIPROT Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. 14978182 2004
dbSNP: rs575109631
rs575109631
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		0.700 GeneticVariation UNIPROT Combined kidney and liver transplantation for familial haemolytic uraemic syndrome. 12020532 2002
dbSNP: rs62625015
rs62625015
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		0.700 GeneticVariation UNIPROT Combined kidney and liver transplantation for familial haemolytic uraemic syndrome. 12020532 2002
dbSNP: rs575109631
rs575109631
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		0.700 GeneticVariation UNIPROT Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. 11170896 2001
dbSNP: rs575109631
rs575109631
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		0.700 GeneticVariation UNIPROT The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20. 11158219 2001
dbSNP: rs575109631
rs575109631
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		0.700 GeneticVariation UNIPROT Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome. 11170895 2001
dbSNP: rs62625015
rs62625015
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		0.700 GeneticVariation UNIPROT Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome. 11170895 2001
dbSNP: rs62625015
rs62625015
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		0.700 GeneticVariation UNIPROT Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. 11170896 2001
dbSNP: rs62625015
rs62625015
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		0.700 GeneticVariation UNIPROT The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20. 11158219 2001
dbSNP: rs575109631
rs575109631
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		0.700 GeneticVariation UNIPROT Molecular basis for factor H and FHL-1 deficiency in an Italian family. 10803850 2000
dbSNP: rs62625015
rs62625015
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		0.700 GeneticVariation UNIPROT Molecular basis for factor H and FHL-1 deficiency in an Italian family. 10803850 2000
dbSNP: rs575109631
rs575109631
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		0.700 GeneticVariation UNIPROT Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism. 9312129 1997
dbSNP: rs62625015
rs62625015
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		0.700 GeneticVariation UNIPROT Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism. 9312129 1997
dbSNP: rs121913052
rs121913052
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121913053
rs121913053
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121913054
rs121913054
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121913056
rs121913056
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121913058
rs121913058
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs796052138
rs796052138
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency 		C 0.700 CausalMutation CLINVAR