PSMB8, proteasome 20S subunit beta 8, 5696

N. diseases: 165; N. variants: 9
Disease: Autoinflammatory disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.310 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: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.310 GeneticVariation disease BEFREE Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. 21852578 2011