DisGeNET - a database of gene-disease associations

Familial Cold Autoinflammatory Syndrome 1, C4551895

Gene: NLRP3 ×

Source: CURATED ×

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:

rs121908146

NLRP3

0.800

GeneticVariation

UNIPROT

The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response.

24952504

2014

dbSNP:

rs121908147

NLRP3

0.800

GeneticVariation

UNIPROT

The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response.

24952504

2014

dbSNP:

rs121908148

NLRP3

0.800

GeneticVariation

UNIPROT

The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response.

24952504

2014

dbSNP:

rs121908150

NLRP3

0.800

GeneticVariation

UNIPROT

The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response.

24952504

2014

dbSNP:

rs121908146

NLRP3

0.800

GeneticVariation

UNIPROT

A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin.

17284928

2007

dbSNP:

rs121908147

NLRP3

0.800

GeneticVariation

UNIPROT

A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin.

17284928

2007

dbSNP:

rs121908148

NLRP3

0.800

GeneticVariation

UNIPROT

A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin.

17284928

2007

dbSNP:

rs121908150

NLRP3

0.800

GeneticVariation

UNIPROT

A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin.

17284928

2007

dbSNP:

rs121908146

NLRP3

0.800

GeneticVariation

UNIPROT

Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.

15593220

2004

dbSNP:

rs121908147

NLRP3

0.800

GeneticVariation

UNIPROT

Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.

15593220

2004

dbSNP:

rs121908148

NLRP3

0.800

GeneticVariation

UNIPROT

Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.

15593220

2004

dbSNP:

rs121908150

NLRP3

0.800

GeneticVariation

UNIPROT

Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.

15593220

2004

dbSNP:

rs121908146

NLRP3

0.800

GeneticVariation

UNIPROT

Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.

12522564

2003

dbSNP:

rs121908147

NLRP3

0.800

GeneticVariation

UNIPROT

Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.

12522564

2003

dbSNP:

rs121908148

NLRP3

0.800

GeneticVariation

UNIPROT

Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.

12522564

2003

dbSNP:

rs121908150

NLRP3

0.800

GeneticVariation

UNIPROT

Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.

12522564

2003

dbSNP:

rs121908146

NLRP3

0.800

GeneticVariation

UNIPROT

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

11992256

2002

dbSNP:

rs121908146

NLRP3

0.800

GeneticVariation

UNIPROT

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.

12355493

2002

dbSNP:

rs121908147

NLRP3

0.800

GeneticVariation

UNIPROT

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

11992256

2002

dbSNP:

rs121908147

NLRP3

0.800

GeneticVariation

UNIPROT

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.

12355493

2002

dbSNP:

rs121908148

NLRP3

0.800

GeneticVariation

UNIPROT

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.

12355493

2002

dbSNP:

rs121908148

NLRP3

0.800

GeneticVariation

UNIPROT

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

11992256

2002

dbSNP:

rs121908150

NLRP3

0.800

GeneticVariation

UNIPROT

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

11992256

2002

dbSNP:

rs121908150

NLRP3

0.800

GeneticVariation

UNIPROT

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.

12355493

2002

dbSNP:

rs121908146

NLRP3

0.800

GeneticVariation

UNIPROT

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.

11687797

2001