PSMC6, proteasome 26S subunit, ATPase 6, 5706

N. diseases: 22; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2295826
rs2295826
Entrez Id: 5706
Gene Symbol: PSMC6
PSMC6
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation BEFREE Using SNPexp data set, correlations have been revealed between the rs1048990, rs2295826, rs2295827 and rs2348071 T1DM risk genotypes and expression levels of 14 genes related to the UPS and 42 T1DM-susceptible genes encoding proteins involved in innate and adaptive immunity, antiviral response, insulin signalling, glucose-energy metabolism and other pathways implicated in T1DM pathogenesis. 26661414 2016
dbSNP: rs2295827
rs2295827
Entrez Id: 5706
Gene Symbol: PSMC6
PSMC6
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation BEFREE Using SNPexp data set, correlations have been revealed between the rs1048990, rs2295826, rs2295827 and rs2348071 T1DM risk genotypes and expression levels of 14 genes related to the UPS and 42 T1DM-susceptible genes encoding proteins involved in innate and adaptive immunity, antiviral response, insulin signalling, glucose-energy metabolism and other pathways implicated in T1DM pathogenesis. 26661414 2016
dbSNP: rs2295826
rs2295826
Entrez Id: 5706
Gene Symbol: PSMC6
PSMC6
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation 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
dbSNP: rs2295827
rs2295827
Entrez Id: 5706
Gene Symbol: PSMC6
PSMC6
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation 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
dbSNP: rs2295826
rs2295826
Entrez Id: 5706
Gene Symbol: PSMC6
PSMC6
CUI: C3892044
Disease:
Oligoarticular Arthritis
0.010 GeneticVariation BEFREE The rs2277460, rs2295826, and rs2295827 loci had the strongest association with oligoarthritis [odds ratio (OR) = 2.024, 95% confidence interval (CI) 1.101-3.722; OR = 2.371, 95% CI 1.390-4.044; OR = 2.183, 95% CI 1.272-2.737, respectively), but the rs2348071 locus was associated with polyarthritis in females (OR = 3.438, 95% CI 1.626-7.265). 24875235 2014
dbSNP: rs2295826
rs2295826
Entrez Id: 5706
Gene Symbol: PSMC6
PSMC6
CUI: C0162323
Disease:
Polyarthritis
0.010 GeneticVariation BEFREE Haplotypes carrying the rare rs2295826/rs2295827 and rs2277460 alleles showed a strong (p < 0.001) association with oligo- and polyarthritis, respectively. 24875235 2014
dbSNP: rs2295827
rs2295827
Entrez Id: 5706
Gene Symbol: PSMC6
PSMC6
CUI: C3892044
Disease:
Oligoarticular Arthritis
0.010 GeneticVariation BEFREE The rs2277460, rs2295826, and rs2295827 loci had the strongest association with oligoarthritis [odds ratio (OR) = 2.024, 95% confidence interval (CI) 1.101-3.722; OR = 2.371, 95% CI 1.390-4.044; OR = 2.183, 95% CI 1.272-2.737, respectively), but the rs2348071 locus was associated with polyarthritis in females (OR = 3.438, 95% CI 1.626-7.265). 24875235 2014
dbSNP: rs2295827
rs2295827
Entrez Id: 5706
Gene Symbol: PSMC6
PSMC6
CUI: C0162323
Disease:
Polyarthritis
0.010 GeneticVariation BEFREE Haplotypes carrying the rare rs2295826/rs2295827 and rs2277460 alleles showed a strong (p < 0.001) association with oligo- and polyarthritis, respectively. 24875235 2014