PSMB8, proteasome 20S subunit beta 8, 5696

N. diseases: 165; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906680
rs387906680
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
CUI: C4746851
Disease:
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
dbSNP: rs387906680
rs387906680
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
CUI: C4746851
Disease:
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
dbSNP: rs387906680
rs387906680
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
CUI: C4746851
Disease:
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
dbSNP: rs387906680
rs387906680
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
CUI: C4746851
Disease:
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
dbSNP: rs387906680
rs387906680
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
CUI: C4746851
Disease:
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
0.800 GeneticVariation UNIPROT A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. 21881205 2011
dbSNP: rs9357155
rs9357155
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
CUI: C0022658
Disease:
Kidney Diseases
0.800 GeneticVariation GWASCAT Genome-wide association study identifies susceptibility loci for IgA nephropathy. 21399633 2011
dbSNP: rs9357155
rs9357155
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
CUI: C0022658
Disease:
Kidney Diseases
0.800 GeneticVariation GWASDB Genome-wide association study identifies susceptibility loci for IgA nephropathy. 21399633 2011
dbSNP: rs387906680
rs387906680
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
CUI: C4746851
Disease:
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
dbSNP: rs387906680
rs387906680
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
CUI: C4746851
Disease:
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
A 0.800 CausalMutation CLINVAR
dbSNP: rs1554239543
rs1554239543
Entrez Id: 5696;100507463
Gene Symbol: PSMB8;PSMB8-AS1
PSMB8;PSMB8-AS1
CUI: C4746851
Disease:
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
dbSNP: rs1554239543
rs1554239543
Entrez Id: 5696;100507463
Gene Symbol: PSMB8;PSMB8-AS1
PSMB8;PSMB8-AS1
CUI: C4746851
Disease:
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
dbSNP: rs2071543
rs2071543
Entrez Id: 5696;100507463
Gene Symbol: PSMB8;PSMB8-AS1
PSMB8;PSMB8-AS1
CUI: C0017661
Disease:
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
dbSNP: rs1554239543
rs1554239543
Entrez Id: 5696;100507463
Gene Symbol: PSMB8;PSMB8-AS1
PSMB8;PSMB8-AS1
CUI: C4746851
Disease:
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
dbSNP: rs1554239543
rs1554239543
Entrez Id: 5696;100507463
Gene Symbol: PSMB8;PSMB8-AS1
PSMB8;PSMB8-AS1
CUI: C4746851
Disease:
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
dbSNP: rs1554239543
rs1554239543
Entrez Id: 5696;100507463
Gene Symbol: PSMB8;PSMB8-AS1
PSMB8;PSMB8-AS1
CUI: C4746851
Disease:
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
0.700 GeneticVariation UNIPROT A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. 21881205 2011
dbSNP: rs1554239543
rs1554239543
Entrez Id: 5696;100507463
Gene Symbol: PSMB8;PSMB8-AS1
PSMB8;PSMB8-AS1
CUI: C4746851
Disease:
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
dbSNP: rs2071540
rs2071540
Entrez Id: 5696;5698;6890;100507463
Gene Symbol: PSMB8;PSMB9;TAP1;PSMB8-AS1
PSMB8;PSMB9;TAP1;PSMB8-AS1
CUI: C0003873
Disease:
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
dbSNP: rs2071543
rs2071543
Entrez Id: 5696;100507463
Gene Symbol: PSMB8;PSMB8-AS1
PSMB8;PSMB8-AS1
CUI: C0003873
Disease:
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
dbSNP: rs6924102
rs6924102
Entrez Id: 5696;100507463
Gene Symbol: PSMB8;PSMB8-AS1
PSMB8;PSMB8-AS1
CUI: C0003873
Disease:
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
dbSNP: rs9357155
rs9357155
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
CUI: C0003873
Disease:
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
dbSNP: rs2071540
rs2071540
Entrez Id: 5696;5698;6890;100507463
Gene Symbol: PSMB8;PSMB9;TAP1;PSMB8-AS1
PSMB8;PSMB9;TAP1;PSMB8-AS1
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545 2007
dbSNP: rs2071543
rs2071543
Entrez Id: 5696;100507463
Gene Symbol: PSMB8;PSMB8-AS1
PSMB8;PSMB8-AS1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.700 GeneticVariation GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836 2007
dbSNP: rs3763349
rs3763349
Entrez Id: 5696;6891
Gene Symbol: PSMB8;TAP2
PSMB8;TAP2
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545 2007
dbSNP: rs6924102
rs6924102
Entrez Id: 5696;100507463
Gene Symbol: PSMB8;PSMB8-AS1
PSMB8;PSMB8-AS1
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545 2007
dbSNP: rs9357155
rs9357155
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.700 GeneticVariation GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836 2007