rs387906680
×
Entrez Id:
5696
Gene Symbol:
PSMB8
PSMB8
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
0.800
GeneticVariation
UNIPROT
CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation.
26567544
2016
rs387906680
×
Entrez Id:
5696
Gene Symbol:
PSMB8
PSMB8
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
0.800
GeneticVariation
UNIPROT
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
26524591
2015
rs387906680
×
Entrez Id:
5696
Gene Symbol:
PSMB8
PSMB8
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
0.800
GeneticVariation
UNIPROT
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.
21953331
2012
rs387906680
×
Entrez Id:
5696
Gene Symbol:
PSMB8
PSMB8
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
0.800
GeneticVariation
UNIPROT
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.
21852578
2011
rs387906680
×
Entrez Id:
5696
Gene Symbol:
PSMB8
PSMB8
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
0.800
GeneticVariation
UNIPROT
A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.
21881205
2011
rs9357155
×
Entrez Id:
5696
Gene Symbol:
PSMB8
PSMB8
Kidney Diseases
0.800
GeneticVariation
GWASCAT
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
21399633
2011
rs9357155
×
Entrez Id:
5696
Gene Symbol:
PSMB8
PSMB8
Kidney Diseases
0.800
GeneticVariation
GWASDB
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
21399633
2011
rs387906680
×
Entrez Id:
5696
Gene Symbol:
PSMB8
PSMB8
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
0.800
GeneticVariation
UNIPROT
PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.
21129723
2010
rs387906680
×
Entrez Id:
5696
Gene Symbol:
PSMB8
PSMB8
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
A
0.800
CausalMutation
CLINVAR
rs1554239543
PSMB8;PSMB8-AS1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
0.700
GeneticVariation
UNIPROT
CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation.
26567544
2016
rs1554239543
PSMB8;PSMB8-AS1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
0.700
GeneticVariation
UNIPROT
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
26524591
2015
rs2071543
PSMB8;PSMB8-AS1
IGA Glomerulonephritis
G
0.700
GeneticVariation
GWASCAT
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.
25305756
2014
rs1554239543
PSMB8;PSMB8-AS1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
0.700
GeneticVariation
UNIPROT
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.
21953331
2012
rs1554239543
PSMB8;PSMB8-AS1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
0.700
GeneticVariation
UNIPROT
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.
21852578
2011
rs1554239543
PSMB8;PSMB8-AS1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
0.700
GeneticVariation
UNIPROT
A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.
21881205
2011
rs1554239543
PSMB8;PSMB8-AS1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
0.700
GeneticVariation
UNIPROT
PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.
21129723
2010
rs2071540
PSMB8;PSMB9;TAP1;PSMB8-AS1
Rheumatoid Arthritis
0.700
GeneticVariation
GWASDB
REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.
19503088
2009
rs2071543
PSMB8;PSMB8-AS1
Rheumatoid Arthritis
0.700
GeneticVariation
GWASDB
REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.
19503088
2009
rs6924102
PSMB8;PSMB8-AS1
Rheumatoid Arthritis
0.700
GeneticVariation
GWASDB
REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.
19503088
2009
rs9357155
×
Entrez Id:
5696
Gene Symbol:
PSMB8
PSMB8
Rheumatoid Arthritis
0.700
GeneticVariation
GWASDB
REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.
19503088
2009
rs2071540
PSMB8;PSMB9;TAP1;PSMB8-AS1
Diabetes Mellitus, Insulin-Dependent
0.700
GeneticVariation
GWASDB
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
17632545
2007
rs2071543
PSMB8;PSMB8-AS1
Rheumatoid Arthritis
0.700
GeneticVariation
GWASDB
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.
17804836
2007
rs3763349
PSMB8;TAP2
Diabetes Mellitus, Insulin-Dependent
0.700
GeneticVariation
GWASDB
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
17632545
2007
rs6924102
PSMB8;PSMB8-AS1
Diabetes Mellitus, Insulin-Dependent
0.700
GeneticVariation
GWASDB
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
17632545
2007
rs9357155
×
Entrez Id:
5696
Gene Symbol:
PSMB8
PSMB8
Rheumatoid Arthritis
0.700
GeneticVariation
GWASDB
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.
17804836
2007