Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
0.310 Biomarker 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