|
rs121908150
|
|
Muckle-Wells Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response.
|
24952504 |
2014 |
|
rs121908150
|
|
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 |
|
rs121908150
|
|
Muckle-Wells Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
The R262W variant was also present in the subject with sporadic MWS.
|
12355493 |
2002 |
|
rs121908150
|
|
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 |
|
rs121908150
|
|
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 |
|
rs121908150
|
|
Muckle-Wells Syndrome
|
|
0.820 |
GeneticVariation
|
BEFREE |
The R262W variant was also present in the subject with sporadic MWS.
|
12355493 |
2002 |
|
rs121908150
|
|
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 |
|
rs121908150
|
|
Muckle-Wells Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs151344629
|
|
Muckle-Wells Syndrome
|
|
0.820 |
GeneticVariation
|
BEFREE |
Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation.
|
27435956 |
2016 |
|
rs151344629
|
|
Muckle-Wells Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response.
|
24952504 |
2014 |
|
rs151344629
|
|
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 |
|
rs151344629
|
|
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 |
|
rs151344629
|
|
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 |
|
rs151344629
|
|
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 |
|
rs151344629
|
|
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 |
|
rs151344629
|
|
Muckle-Wells Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121908153
|
|
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 |
|
rs121908153
|
|
Muckle-Wells Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response.
|
24952504 |
2014 |
|
rs121908153
|
|
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 |
|
rs121908153
|
|
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 |
|
rs121908153
|
|
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 |
|
rs121908153
|
|
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 |
|
rs121908153
|
|
Muckle-Wells Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs10157379
|
|
Fibrinogen assay
|
C |
0.800 |
GeneticVariation
|
GWASCAT |
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.
|
26561523 |
2016 |
|
rs10157379
|
|
Fibrinogen assay
|
T |
0.800 |
GeneticVariation
|
GWASDB |
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
|
23969696 |
2013 |