DisGeNET - a database of gene-disease associations

NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74

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:

rs151344629

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.820

GeneticVariation

BEFREE

Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation.

27435956

2016

dbSNP:

rs121908150

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.820

GeneticVariation

UNIPROT

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

24952504

2014

dbSNP:

rs151344629

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.820

GeneticVariation

UNIPROT

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

24952504

2014

dbSNP:

rs121908150

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.820

GeneticVariation

UNIPROT

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

15593220

2004

dbSNP:

rs151344629

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.820

GeneticVariation

UNIPROT

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

15593220

2004

dbSNP:

rs151344629

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.820

GeneticVariation

BEFREE

In her CIAS1 gene we have found a 1043C-->T, T348M, mutation, which has only been detected in Muckle-Wells syndrome before.

12930324

2003

dbSNP:

rs121908150

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.820

GeneticVariation

UNIPROT

The R262W variant was also present in the subject with sporadic MWS.

12355493

2002

dbSNP:

rs121908150

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.820

GeneticVariation

UNIPROT

The R260W mutation was identified in two families with MWS and in two families with FCU, of different ethnic origins, thereby demonstrating that a single CIAS1 mutation may cause both syndromes.

11992256

2002

dbSNP:

rs121908150

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.820

GeneticVariation

BEFREE

The R260W mutation was identified in two families with MWS and in two families with FCU, of different ethnic origins, thereby demonstrating that a single CIAS1 mutation may cause both syndromes.

11992256

2002

dbSNP:

rs121908150

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.820

GeneticVariation

BEFREE

The R262W variant was also present in the subject with sporadic MWS.

12355493

2002

dbSNP:

rs151344629

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.820

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:

rs151344629

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.820

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:

rs121908150

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.820

GeneticVariation

UNIPROT

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

11687797

2001

dbSNP:

rs151344629

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.820

GeneticVariation

UNIPROT

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

11687797

2001

dbSNP:

rs121908150

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.820

CausalMutation

CLINVAR

dbSNP:

rs151344629

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.820

CausalMutation

CLINVAR

dbSNP:

rs121908153

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.810

GeneticVariation

BEFREE

We report two patients with MWS in an Indian family associated with the p.D303N mutation in the NLRP3 gene.

25766347

2016

dbSNP:

rs121908153

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.810

GeneticVariation

UNIPROT

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

24952504

2014

dbSNP:

rs121908153

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.810

GeneticVariation

UNIPROT

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

15593220

2004

dbSNP:

rs121908153

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.810

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:

rs121908153

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.810

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:

rs121908153

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.810

GeneticVariation

UNIPROT

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

11687797

2001

dbSNP:

rs121908153

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0268390
Disease:

Muckle-Wells Syndrome

0.810

CausalMutation

CLINVAR

dbSNP:

rs12239046

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0201657
Disease:

C-reactive protein measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs12239046

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0201657
Disease:

C-reactive protein measurement

0.800

GeneticVariation

GWASCAT

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

30388399

2018