PSMB8, proteasome 20S subunit beta 8, 5696

N. diseases: 165; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4746851
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 		0.700 GeneticVariation disease UNIPROT CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation. 26567544 2016
CUI: C4746851
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. 26524591 2015
CUI: C4746851
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 		0.700 GeneticVariation disease 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
CUI: C4746851
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND 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
CUI: C4746851
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 		0.700 GeneticVariation disease UNIPROT A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. 21881205 2011
CUI: C4746851
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. 21852578 2011
CUI: C4746851
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. 21129723 2010
CUI: C4746851
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 		0.700 GeneticVariation disease UNIPROT PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. 21129723 2010
CUI: C4746851
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. 20534754 2010
CUI: C4746851
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4746851
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 		0.700 Biomarker disease CTD_human
CUI: C4746851
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 		0.700 CausalMutation disease CLINVAR
CUI: C4746851
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1850568
Disease: Nakajo syndrome
Nakajo syndrome 		0.570 GeneticVariation disease BEFREE To investigate and understand the mechanisms and signal pathways in NNS, we established a panel of isogenic pluripotent stem cell (PSC) lines with PSMB8 mutation. 29731430 2018
CUI: C1850568
Disease: Nakajo syndrome
Nakajo syndrome 		0.570 GeneticVariation disease BEFREE What is New: • We described a Brazilian patient with CANDLE syndrome possessing a novel mutation in the PSMB8 gene. 26567544 2016
CUI: C1850568
Disease: Nakajo syndrome
Nakajo syndrome 		0.570 GeneticVariation disease BEFREE Identification of the PSMB8 mutation finalized the diagnosis of NNS at 5 years of age. 23942189 2013
CUI: C1850568
Disease: Nakajo syndrome
Nakajo syndrome 		0.570 GermlineCausalMutation disease ORPHANET CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause "JMP" syndrome (joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy) in adults. 21953331 2012
CUI: C1850568
Disease: Nakajo syndrome
Nakajo syndrome 		0.570 Biomarker disease GENOMICS_ENGLAND CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause "JMP" syndrome (joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy) in adults. 21953331 2012
CUI: C1850568
Disease: Nakajo syndrome
Nakajo syndrome 		0.570 GeneticVariation disease BEFREE Since similar diseases with PSMB8 mutations have recently been reported from Europe and the United States, it is becoming clear that Nakajo-Nishimura syndrome and related disorders form proteasome disability syndromes, a new category of autoinflammatory diseases distributed globally. 22441638 2012
CUI: C1850568
Disease: Nakajo syndrome
Nakajo syndrome 		0.570 GeneticVariation disease BEFREE CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause "JMP" syndrome (joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy) in adults. 21953331 2012
CUI: C1850568
Disease: Nakajo syndrome
Nakajo syndrome 		0.570 GermlineCausalMutation disease ORPHANET Here, we report a mutation in the human proteasome subunit beta type 8 gene (PSMB8) that encodes the immunoproteasome subunit β5i in patients with NNS. 21852578 2011
CUI: C1850568
Disease: Nakajo syndrome
Nakajo syndrome 		0.570 GeneticVariation disease BEFREE Here, we report a mutation in the human proteasome subunit beta type 8 gene (PSMB8) that encodes the immunoproteasome subunit β5i in patients with NNS. 21852578 2011
CUI: C1850568
Disease: Nakajo syndrome
Nakajo syndrome 		0.570 GermlineCausalMutation disease ORPHANET We conclude that mutations in PSMB8 cause JMP syndrome, most probably by affecting MHC class I antigen processing. 21129723 2010
CUI: C1850568
Disease: Nakajo syndrome
Nakajo syndrome 		0.570 GeneticVariation disease BEFREE We conclude that mutations in PSMB8 cause JMP syndrome, most probably by affecting MHC class I antigen processing. 21129723 2010
CUI: C1850568
Disease: Nakajo syndrome
Nakajo syndrome 		0.570 Biomarker disease GENOMICS_ENGLAND