DisGeNET - a database of gene-disease associations

CFP, complement factor properdin, 5199

N. diseases: 108; N. variants: 7

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:

rs28935480

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.800

GeneticVariation

UNIPROT

Structural Basis for Properdin Oligomerization and Convertase Stimulation in the Human Complement System.

31507604

2019

dbSNP:

rs28935480

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.800

GeneticVariation

UNIPROT

Functional and structural insight into properdin control of complement alternative pathway amplification.

28264884

2017

dbSNP:

rs28935480

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.800

GeneticVariation

UNIPROT

Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies.

10909851

2000

dbSNP:

rs28935480

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.800

GeneticVariation

UNIPROT

Expression of properdin in complete and incomplete deficiency: normal in vitro synthesis by monocytes in two cases with properdin deficiency type II due to distinct mutations.

9710744

1998

dbSNP:

rs28935480

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.800

GeneticVariation

UNIPROT

Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange.

8871668

1996

dbSNP:

rs28935480

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.800

CausalMutation

CLINVAR

dbSNP:

rs132630259

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.700

GeneticVariation

UNIPROT

Structural Basis for Properdin Oligomerization and Convertase Stimulation in the Human Complement System.

31507604

2019

dbSNP:

rs132630261

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.700

GeneticVariation

UNIPROT

Structural Basis for Properdin Oligomerization and Convertase Stimulation in the Human Complement System.

31507604

2019

dbSNP:

rs132630259

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.700

GeneticVariation

UNIPROT

Functional and structural insight into properdin control of complement alternative pathway amplification.

28264884

2017

dbSNP:

rs132630261

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.700

GeneticVariation

UNIPROT

Functional and structural insight into properdin control of complement alternative pathway amplification.

28264884

2017

dbSNP:

rs132630259

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.700

GeneticVariation

UNIPROT

Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies.

10909851

2000

dbSNP:

rs132630261

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.700

GeneticVariation

UNIPROT

Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies.

10909851

2000

dbSNP:

rs132630259

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.700

GeneticVariation

UNIPROT

Expression of properdin in complete and incomplete deficiency: normal in vitro synthesis by monocytes in two cases with properdin deficiency type II due to distinct mutations.

9710744

1998

dbSNP:

rs132630261

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.700

GeneticVariation

UNIPROT

Expression of properdin in complete and incomplete deficiency: normal in vitro synthesis by monocytes in two cases with properdin deficiency type II due to distinct mutations.

9710744

1998

dbSNP:

rs132630259

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.700

GeneticVariation

UNIPROT

Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange.

8871668

1996

dbSNP:

rs132630261

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.700

GeneticVariation

UNIPROT

Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange.

8871668

1996

dbSNP:

rs132630258

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.700

CausalMutation

CLINVAR

dbSNP:

rs132630259

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839455
Disease:

Properdin Deficiency, Type II

0.700

CausalMutation

CLINVAR

dbSNP:

rs132630260

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839454
Disease:

PROPERDIN DEFICIENCY, X-LINKED

0.700

CausalMutation

CLINVAR

dbSNP:

rs132630261

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C1839456
Disease:

Properdin Deficiency, Type III

0.700

CausalMutation

CLINVAR

dbSNP:

rs747581281

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C0021390
Disease:

Inflammatory Bowel Diseases

0.010

GeneticVariation

BEFREE

CFP p.L456V may exacerbate symptoms of infantile-onset IBD by disturbing oligomerization of properdin.

30199474

2018

dbSNP:

rs1048118

Entrez Id:	5199
Gene Symbol:	CFP

CFP

CUI:	C0242383
Disease:

Age related macular degeneration

0.010

GeneticVariation

BEFREE

The fourth SNP, rs1048118 in exon 10, was more frequent, but was not associated with AMD, either alone (p=0.33) or in conjunction with other risk factors.

20122735

2010