PSMB8, proteasome 20S subunit beta 8, 5696

N. diseases: 165; N. variants: 9
Disease: Lipodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.140 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: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.140 GeneticVariation disease BEFREE A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. 21881205 2011
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.140 GeneticVariation disease BEFREE Recently, an autosomal recessive autoinflammatory lipodystrophy syndrome was reported to be due to PSMB8 mutation. 21865368 2011
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.140 GeneticVariation disease BEFREE PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. 21129723 2010
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.140 Biomarker disease HPO