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: C0020179
Disease: Huntington Disease
Huntington Disease 		0.030 Biomarker disease BEFREE This makes P42 peptide potentially suitable not only to prevent, but also to treat HD. 29860423 2018
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.030 Biomarker disease BEFREE The P42 peptide and Peptide-based therapies for Huntington's disease. 26984770 2016
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.030 Biomarker disease BEFREE These data also demonstrate a specific role of P42 on Huntington's disease model, since it has no effect on other models of polyQ-induced diseases, such as spinocerebellar ataxias. 23861941 2013
CUI: C0221391
Disease: Melanosis coli
Melanosis coli 		0.010 Biomarker disease BEFREE <b>Conclusion:</b> GNG5, LPAR3, MAPK8, and PSMC6 might be candidate biomarkers associated with apoptosis in MC. 30559147 2019
CUI: C0751955
Disease: Brain Infarction
Brain Infarction 		0.010 GeneticVariation disease BEFREE Delayed intraventricular transplantation of 1 × 10<sup>5</sup> thrombin preconditioned but not naïve MSCs at 24 h after hypothermia significantly enhanced observed anti-inflammatory, anti-astroglial, and anti-apoptotic effects and the ensuing brain infarction; behavioral tests, such as cylinder rearing and negative geotaxis tests, were conducted at P42. 31137455 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 Biomarker disease BEFREE YC-1 Antagonizes Wnt/β-Catenin Signaling Through the EBP1 p42 Isoform in Hepatocellular Carcinoma. 31086087 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 Biomarker disease BEFREE CRISPR Genome-Wide Screening Identifies Dependence on the Proteasome Subunit PSMC6 for Bortezomib Sensitivity in Multiple Myeloma. 28958990 2017
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 GeneticVariation disease BEFREE To fulfil this gap, single nucleotide polymorphisms in the PSMB5 (rs11543947), PSMA6 (rs2277460, rs1048990), PSMC6 (rs2295826, rs2295827) and PSMA3 (rs2348071) genes were genotyped on susceptibility to T1DM in Latvians. 26661414 2016
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 Biomarker disease BEFREE Together, our data show that excess p30 cooperated with TRIB2 only in the presence of p42 to accelerate AML, and the direct interaction and degradation of C/EBPα p42 is required for TRIB2-mediated AML. 26996668 2016
CUI: C0004096
Disease: Asthma
Asthma 		0.010 GeneticVariation disease BEFREE To investigate polymorphisms of proteasomal genes PSMA6 (rs1048990 and rs2277460), PSMC6 (rs2295826 and rs2295827) and PSMA3 (rs2348071) in Lithuanian patients with asthma. 25375907 2015
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 AlteredExpression disease BEFREE We studied EBP1, an ErbB3 binding protein, and the effects of p48 and p42 isoforms on the MHC II expression in U87 glioblastoma, M14 melanoma and MCF7 mammary carcinoma cell lines. 26081906 2015
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		0.010 Biomarker disease BEFREE Restoring C/EBPα P42 is an attractive approach for differentiation therapy in ATRA resistant APL. 26397153 2015
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 AlteredExpression disease BEFREE We studied EBP1, an ErbB3 binding protein, and the effects of p48 and p42 isoforms on the MHC II expression in U87 glioblastoma, M14 melanoma and MCF7 mammary carcinoma cell lines. 26081906 2015
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 AlteredExpression disease BEFREE We studied EBP1, an ErbB3 binding protein, and the effects of p48 and p42 isoforms on the MHC II expression in U87 glioblastoma, M14 melanoma and MCF7 mammary carcinoma cell lines. 26081906 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 AlteredExpression disease BEFREE We studied EBP1, an ErbB3 binding protein, and the effects of p48 and p42 isoforms on the MHC II expression in U87 glioblastoma, M14 melanoma and MCF7 mammary carcinoma cell lines. 26081906 2015
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
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.010 Biomarker disease BEFREE These data also demonstrate a specific role of P42 on Huntington's disease model, since it has no effect on other models of polyQ-induced diseases, such as spinocerebellar ataxias. 23861941 2013
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.010 Biomarker phenotype BEFREE However, mice that remained hippocampally iron deficient until P42 continued to have spatial memory deficits, impaired CA1 apical dendrite structure, and persistent alterations in PV and PNN expression and reduced BDNF despite iron repletion. 22367974 2012
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.010 Biomarker disease BEFREE Together, these findings demonstrate that hippocampal iron availability is necessary between P21 and P42 for development of normal spatial learning and memory, and that these effects may reflect disruption of critical period closure by early life ID. 22367974 2012
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 Biomarker disease BEFREE In conclusion, we have demonstrated for the first time the novel identification of the ETS-1 splice variants p42 and p27 in PCa cell lines. 22307076 2012
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 Biomarker disease BEFREE In conclusion, we have demonstrated for the first time the novel identification of the ETS-1 splice variants p42 and p27 in PCa cell lines. 22307076 2012
CUI: C0476227
Disease: pricking of skin
pricking of skin 		0.010 GeneticVariation phenotype BEFREE WDEIA patients were selected and skin prick tests (SPTs) were performed on them using commercial gluten, wheat flour extracts, prolamin fractions and a purified natural LMW-GS P42. 20357483 2010
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 AlteredExpression group BEFREE Levels of both p51 and p52 but not p33 and p42 were present at significantly higher levels in the carcinomas compared to the fibroadenomas (for p51, P<0.007; for p52, P<0.02; Mann-Whitney U-test). 15365563 2004
CUI: C0206650
Disease: Fibroadenoma
Fibroadenoma 		0.010 AlteredExpression disease BEFREE Levels of both p51 and p52 but not p33 and p42 were present at significantly higher levels in the carcinomas compared to the fibroadenomas (for p51, P<0.007; for p52, P<0.02; Mann-Whitney U-test). 15365563 2004