CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761877050
rs761877050
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133 2010
dbSNP: rs761877050
rs761877050
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		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: rs761877050
rs761877050
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. 14583443 2003
dbSNP: rs761877050
rs761877050
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries. 12960213 2003
dbSNP: rs761877050
rs761877050
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Molecular modelling of the C-terminal domains of factor H of human complement: a correlation between haemolytic uraemic syndrome and a predicted heparin binding site. 11851332 2002
dbSNP: rs761877050
rs761877050
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. 10762557 2000
dbSNP: rs761877050
rs761877050
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. 10577907 1999
dbSNP: rs761877050
rs761877050
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Genetic studies into inherited and sporadic hemolytic uremic syndrome. 9551389 1998