PSMB1, proteasome 20S subunit beta 1, 5689

N. diseases: 15; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs756519
rs756519
Entrez Id: 5689
Gene Symbol: PSMB1
PSMB1
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs12717
rs12717
Entrez Id: 5689;6908
Gene Symbol: PSMB1;TBP
PSMB1;TBP
CUI: C0024301
Disease:
Lymphoma, Follicular 		0.010 GeneticVariation BEFREE Proteasome subunit beta type 1 (PSMB1) rs12717 polymorphism, a single nucleotide polymorphism with unknown functional effect, was recently reported to influence response to bortezomib-based therapy in follicular lymphoma. 28733196 2017
dbSNP: rs12717
rs12717
Entrez Id: 5689;6908
Gene Symbol: PSMB1;TBP
PSMB1;TBP
CUI: C0026764
Disease:
Multiple Myeloma 		0.010 GeneticVariation BEFREE Proteasome Subunit Beta Type 1 P11A Polymorphism Is a New Prognostic Marker in Multiple Myeloma. 28733196 2017
dbSNP: rs1474642
rs1474642
Entrez Id: 5689
Gene Symbol: PSMB1
PSMB1
CUI: C0031117
Disease:
Peripheral Neuropathy 		0.010 GeneticVariation BEFREE In the VISTA cohort, after Bonferroni correction, two SNPs significantly associated with time to onset of PN [CTLA4 rs4553808, false discovery rate (FDR)=0.002] and time to onset of grade of at least 2 PN (PSMB1 rs1474642, FDR=0.014). 21228734 2011
dbSNP: rs1474642
rs1474642
Entrez Id: 5689
Gene Symbol: PSMB1
PSMB1
CUI: C4721453
Disease:
Peripheral Nervous System Diseases 		0.010 GeneticVariation BEFREE In the VISTA cohort, after Bonferroni correction, two SNPs significantly associated with time to onset of PN [CTLA4 rs4553808, false discovery rate (FDR)=0.002] and time to onset of grade of at least 2 PN (PSMB1 rs1474642, FDR=0.014). 21228734 2011