PSMB8, proteasome 20S subunit beta 8, 5696

N. diseases: 165; N. variants: 9
Disease: Panniculitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030326
Disease: Panniculitis
Panniculitis 		0.110 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: C0030326
Disease: Panniculitis
Panniculitis 		0.110 Biomarker disease HPO