DisGeNET - a database of gene-disease associations

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1, C2749604

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913051

CFH

0.800

GeneticVariation

UNIPROT

Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom.

19821824

2010

dbSNP:

rs121913055

CFH

0.800

GeneticVariation

UNIPROT

Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom.

19821824

2010

dbSNP:

rs460897

CFH

0.800

GeneticVariation

UNIPROT

Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom.

19821824

2010

dbSNP:

rs121913051

CFH

0.800

GeneticVariation

UNIPROT

Atypical hemolytic-uremic syndrome.

19846853

2009

dbSNP:

rs121913055

CFH

0.800

GeneticVariation

UNIPROT

Atypical hemolytic-uremic syndrome.

19846853

2009

dbSNP:

rs460897

CFH

0.800

GeneticVariation

UNIPROT

Atypical hemolytic-uremic syndrome.

19846853

2009

dbSNP:

rs121913051

CFH

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs121913055

CFH

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs460897

CFH

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs1391815797

CFH

0.700

GeneticVariation

UNIPROT

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

20513133

2010

dbSNP:

rs145975787

CFH

0.700

GeneticVariation

UNIPROT

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

20513133

2010

dbSNP:

rs460184

CFH

0.700

GeneticVariation

UNIPROT

Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom.

19821824

2010

dbSNP:

rs761877050

CFH

0.700

GeneticVariation

UNIPROT

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

20513133

2010

dbSNP:

rs762443267

CFH

0.700

GeneticVariation

UNIPROT

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

20513133

2010

dbSNP:

rs777049051

CFH

0.700

GeneticVariation

UNIPROT

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

20513133

2010

dbSNP:

rs460184

CFH

0.700

GeneticVariation

UNIPROT

Atypical hemolytic-uremic syndrome.

19846853

2009

dbSNP:

rs1391815797

CFH

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:

rs145975787

CFH

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

CFH

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:

rs762443267

CFH

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:

rs777049051

CFH

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:

rs1391815797

CFH

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:

rs1391815797

CFH

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:

rs145975787

CFH

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:

rs145975787

CFH

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