DisGeNET - a database of gene-disease associations

PSMB8, proteasome 20S subunit beta 8, 5696

N. diseases: 165; N. variants: 9

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:

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:

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

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

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:

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

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:

rs2071464

Entrez Id:	5696
Gene Symbol:	PSMB8

PSMB8

CUI:	C0042900
Disease:

Vitiligo

0.010

GeneticVariation

BEFREE

PSMB8 rs2071464 was associated with generalized and active vitiligo from Gujarat whereas TAP1 rs1135216 showed no association.

28700671

2017

dbSNP:

rs2071464

Entrez Id:	5696
Gene Symbol:	PSMB8

PSMB8

CUI:	C1847835
Disease:

VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)

0.010

GeneticVariation

BEFREE

PSMB8 rs2071464 was associated with generalized and active vitiligo from Gujarat whereas TAP1 rs1135216 showed no association.

28700671

2017

dbSNP:

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:

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

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:

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:

rs2071543

Entrez Id:	5696;100507463
Gene Symbol:	PSMB8;PSMB8-AS1

PSMB8;PSMB8-AS1

CUI:	C0017661
Disease:

IGA Glomerulonephritis

0.700

GeneticVariation

GWASCAT

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

25305756

2014

dbSNP:

rs2071543

Entrez Id:	5696;100507463
Gene Symbol:	PSMB8;PSMB8-AS1

PSMB8;PSMB8-AS1

CUI:	C1306459
Disease:

Primary malignant neoplasm

0.020

GeneticVariation

BEFREE

Our results indicate that the LMP2 rs17587 and LMP7 rs2071543 polymorphisms may act as risk factors for cancer, especially for Asian populations.

28977958

2017

dbSNP:

rs2071543

Entrez Id:	5696;100507463
Gene Symbol:	PSMB8;PSMB8-AS1

PSMB8;PSMB8-AS1

CUI:	C0006826
Disease:

Malignant Neoplasms

0.020

GeneticVariation

BEFREE

Furthermore, rs17587 showed a greater susceptibility to gynecological cancers, while rs2071543 increased the risk of gastrointestinal and gynecological cancers.

28977958

2017

dbSNP:

rs2071543

Entrez Id:	5696;100507463
Gene Symbol:	PSMB8;PSMB8-AS1

PSMB8;PSMB8-AS1

CUI:	C1306459
Disease:

Primary malignant neoplasm

0.020

GeneticVariation

BEFREE

Impact of <i>LMP7</i> (rs2071543) gene polymorphism in increasing cancer risk: evidence from a meta-analysis and trial sequential analysis.

29464093

2018

dbSNP:

rs2071543

Entrez Id:	5696;100507463
Gene Symbol:	PSMB8;PSMB8-AS1

PSMB8;PSMB8-AS1

CUI:	C0006826
Disease:

Malignant Neoplasms

0.020

GeneticVariation

BEFREE

Impact of <i>LMP7</i> (rs2071543) gene polymorphism in increasing cancer risk: evidence from a meta-analysis and trial sequential analysis.

29464093

2018

dbSNP:

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:

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

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

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

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

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

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:

rs387906680

Entrez Id:	5696
Gene Symbol:	PSMB8

PSMB8

CUI:	C4746851
Disease:

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1

0.800

CausalMutation

CLINVAR