DisGeNET - a database of gene-disease associations

C3, complement C3, 718

N. diseases: 343; N. variants: 49

Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121909583

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.800

GeneticVariation

UNIPROT

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

19821824

2010

dbSNP:

rs121909583

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.800

GeneticVariation

UNIPROT

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

20513133

2010

dbSNP:

rs121909584

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.800

GeneticVariation

UNIPROT

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

20513133

2010

dbSNP:

rs121909584

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.800

GeneticVariation

UNIPROT

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

19821824

2010

dbSNP:

rs121909585

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.800

GeneticVariation

UNIPROT

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

19821824

2010

dbSNP:

rs121909585

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.800

GeneticVariation

UNIPROT

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

20513133

2010

dbSNP:

rs121909583

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.800

GeneticVariation

UNIPROT

Atypical hemolytic-uremic syndrome.

19846853

2009

dbSNP:

rs121909584

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.800

GeneticVariation

UNIPROT

Atypical hemolytic-uremic syndrome.

19846853

2009

dbSNP:

rs121909585

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.800

GeneticVariation

UNIPROT

Atypical hemolytic-uremic syndrome.

19846853

2009

dbSNP:

rs121909583

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.800

GeneticVariation

UNIPROT

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.

18796626

2008

dbSNP:

rs121909584

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.800

GeneticVariation

UNIPROT

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.

18796626

2008

dbSNP:

rs121909585

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.800

GeneticVariation

UNIPROT

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.

18796626

2008

dbSNP:

rs121909583

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs121909584

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs121909585

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs771353792

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.700

GeneticVariation

UNIPROT

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

20513133

2010

dbSNP:

rs771353792

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.700

GeneticVariation

UNIPROT

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.

18796626

2008

dbSNP:

rs794729228

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.700

GeneticVariation

CLINVAR

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.

18796626

2008

dbSNP:

rs117793540

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.700

GeneticVariation

UNIPROT

dbSNP:

rs121909586

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.700

SusceptibilityMutation

CLINVAR

dbSNP:

rs775015499

Entrez Id:	718
Gene Symbol:	C3

CUI:	C2752037
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

0.700

GeneticVariation

CLINVAR