DisGeNET - a database of gene-disease associations

CFI, complement factor I, 3426

N. diseases: 133; N. variants: 25

Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 ×

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:

rs121964914

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs121964917

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs121964918

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs121964913

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.700

SusceptibilityMutation

CLINVAR

dbSNP:

rs121964915

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.700

SusceptibilityMutation

CLINVAR

dbSNP:

rs200419722

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

CLINVAR

dbSNP:

rs75612300

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

dbSNP:

rs121964914

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.800

GeneticVariation

UNIPROT

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.

15173250

2004

dbSNP:

rs121964917

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.800

GeneticVariation

UNIPROT

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.

15173250

2004

dbSNP:

rs121964918

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.800

GeneticVariation

UNIPROT

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.

15173250

2004

dbSNP:

rs141853578

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.

15173250

2004

dbSNP:

rs182078921

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.

15173250

2004

dbSNP:

rs61733901

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.

15173250

2004

dbSNP:

rs769419740

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.

15173250

2004

dbSNP:

rs773187287

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.

15173250

2004

dbSNP:

rs121964914

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.800

GeneticVariation

UNIPROT

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

16621965

2006

dbSNP:

rs121964917

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.800

GeneticVariation

UNIPROT

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

16621965

2006

dbSNP:

rs121964918

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.800

GeneticVariation

UNIPROT

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

16621965

2006

dbSNP:

rs141853578

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

16621965

2006

dbSNP:

rs182078921

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

16621965

2006

dbSNP:

rs61733901

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

16621965

2006

dbSNP:

rs769419740

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

16621965

2006

dbSNP:

rs773187287

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

16621965

2006

dbSNP:

rs121964914

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.800

GeneticVariation

UNIPROT

A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome.

17106690

2007

dbSNP:

rs121964917

Entrez Id:	3426
Gene Symbol:	CFI

CFI

CUI:	C2752039
Disease:

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

0.800

GeneticVariation

UNIPROT

A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome.

17106690

2007