CFH, complement factor H, 3075

N. diseases: 225; N. variants: 112
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856143
Disease: HEMOLYTIC UREMIC SYNDROME, TYPICAL
HEMOLYTIC UREMIC SYNDROME, TYPICAL
0.300 GeneticVariation disease UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133 2010
CUI: C1856143
Disease: HEMOLYTIC UREMIC SYNDROME, TYPICAL
HEMOLYTIC UREMIC SYNDROME, TYPICAL
0.300 GeneticVariation disease UNIPROT Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. 14978182 2004
CUI: C1856143
Disease: HEMOLYTIC UREMIC SYNDROME, TYPICAL
HEMOLYTIC UREMIC SYNDROME, TYPICAL
0.300 GeneticVariation disease 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 2004
CUI: C1856143
Disease: HEMOLYTIC UREMIC SYNDROME, TYPICAL
HEMOLYTIC UREMIC SYNDROME, TYPICAL
0.300 GeneticVariation disease UNIPROT Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries. 12960213 2003
CUI: C1856143
Disease: HEMOLYTIC UREMIC SYNDROME, TYPICAL
HEMOLYTIC UREMIC SYNDROME, TYPICAL
0.300 GeneticVariation disease 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
CUI: C1856143
Disease: HEMOLYTIC UREMIC SYNDROME, TYPICAL
HEMOLYTIC UREMIC SYNDROME, TYPICAL
0.300 GeneticVariation disease UNIPROT Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. 10577907 2000
CUI: C1856143
Disease: HEMOLYTIC UREMIC SYNDROME, TYPICAL
HEMOLYTIC UREMIC SYNDROME, TYPICAL
0.300 GeneticVariation disease UNIPROT Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. 10762557 2000
CUI: C1856143
Disease: HEMOLYTIC UREMIC SYNDROME, TYPICAL
HEMOLYTIC UREMIC SYNDROME, TYPICAL
0.300 GeneticVariation disease UNIPROT Genetic studies into inherited and sporadic hemolytic uremic syndrome. 9551389 1998