PSMC6, proteasome 26S subunit, ATPase 6, 5706

N. diseases: 22; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.010 GeneticVariation disease BEFREE The PSMB5 (rs11543947), PSMA6 (rs2277460, rs1048990), PSMC6 (rs2295826, rs2295827), and PSMA3 (rs2348071) proteasomal genes were genotyped on JIA subtype- and sex-specific association; plasma proteasome levels was measured in patients having risk and protective four-locus genotypes and eventual functional significance of allele substitutions was evaluated in silico. 24875235 2014