PCNA, proliferating cell nuclear antigen, 5111

N. diseases: 581; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369958038
rs369958038
Entrez Id: 5111
Gene Symbol: PCNA
PCNA
CUI: C4014676
Disease:
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2
0.800 GeneticVariation UNIPROT Hypomorphic PCNA mutation underlies a human DNA repair disorder. 24911150 2014
dbSNP: rs369958038
rs369958038
Entrez Id: 5111
Gene Symbol: PCNA
PCNA
CUI: C4014676
Disease:
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2
A 0.800 CausalMutation CLINVAR
dbSNP: rs13038869
rs13038869
Entrez Id: 5111;8760
Gene Symbol: PCNA;CDS2
PCNA;CDS2
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs141842220
rs141842220
Entrez Id: 5111;100302739
Gene Symbol: PCNA;PCNA-AS1
PCNA;PCNA-AS1
CUI: C0013336
Disease:
Dwarfism
0.010 GeneticVariation BEFREE Surprisingly, one dwarfism allele ( Cdt1-A66T) is more active than WT Cdt1. 30281379 2018
dbSNP: rs25406
rs25406
Entrez Id: 5111;100302739
Gene Symbol: PCNA;PCNA-AS1
PCNA;PCNA-AS1
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Carriers of the G allele of POLκ rs5744724 had significantly reduced risk of lung cancer (odds ratio (OR)=0.62, 95% confidence interval (CI): 0.44-0.89), comparing with those carrying the C allele, and the AA genotype of PCNA rs25406 was also associated with significantly decreased cancer risk compared with the major homozygote alleles (OR=0.47, 95% CI: 0.25-0.86). 24012694 2013
dbSNP: rs25406
rs25406
Entrez Id: 5111;100302739
Gene Symbol: PCNA;PCNA-AS1
PCNA;PCNA-AS1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Carriers of the G allele of POLκ rs5744724 had significantly reduced risk of lung cancer (odds ratio (OR)=0.62, 95% confidence interval (CI): 0.44-0.89), comparing with those carrying the C allele, and the AA genotype of PCNA rs25406 was also associated with significantly decreased cancer risk compared with the major homozygote alleles (OR=0.47, 95% CI: 0.25-0.86). 24012694 2013
dbSNP: rs25406
rs25406
Entrez Id: 5111;100302739
Gene Symbol: PCNA;PCNA-AS1
PCNA;PCNA-AS1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Carriers of the G allele of POLκ rs5744724 had significantly reduced risk of lung cancer (odds ratio (OR)=0.62, 95% confidence interval (CI): 0.44-0.89), comparing with those carrying the C allele, and the AA genotype of PCNA rs25406 was also associated with significantly decreased cancer risk compared with the major homozygote alleles (OR=0.47, 95% CI: 0.25-0.86). 24012694 2013
dbSNP: rs25406
rs25406
Entrez Id: 5111;100302739
Gene Symbol: PCNA;PCNA-AS1
PCNA;PCNA-AS1
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Carriers of the G allele of POLκ rs5744724 had significantly reduced risk of lung cancer (odds ratio (OR)=0.62, 95% confidence interval (CI): 0.44-0.89), comparing with those carrying the C allele, and the AA genotype of PCNA rs25406 was also associated with significantly decreased cancer risk compared with the major homozygote alleles (OR=0.47, 95% CI: 0.25-0.86). 24012694 2013
dbSNP: rs25406
rs25406
Entrez Id: 5111;100302739
Gene Symbol: PCNA;PCNA-AS1
PCNA;PCNA-AS1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Carriers of the G allele of POLκ rs5744724 had significantly reduced risk of lung cancer (odds ratio (OR)=0.62, 95% confidence interval (CI): 0.44-0.89), comparing with those carrying the C allele, and the AA genotype of PCNA rs25406 was also associated with significantly decreased cancer risk compared with the major homozygote alleles (OR=0.47, 95% CI: 0.25-0.86). 24012694 2013
dbSNP: rs25406
rs25406
Entrez Id: 5111;100302739
Gene Symbol: PCNA;PCNA-AS1
PCNA;PCNA-AS1
CUI: C0025286
Disease:
Meningioma
0.010 GeneticVariation BEFREE Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1800067 (P(trend) .01); MUTYH rs3219466 (P(trend) .02), and PCNA rs25406 (P(trend) .03). 20150366 2010
dbSNP: rs25406
rs25406
Entrez Id: 5111;100302739
Gene Symbol: PCNA;PCNA-AS1
PCNA;PCNA-AS1
CUI: C0278877
Disease:
Adult Meningioma
0.010 GeneticVariation BEFREE Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1800067 (P(trend) .01); MUTYH rs3219466 (P(trend) .02), and PCNA rs25406 (P(trend) .03). 20150366 2010
dbSNP: rs25406
rs25406
Entrez Id: 5111;100302739
Gene Symbol: PCNA;PCNA-AS1
PCNA;PCNA-AS1
CUI: C1762616
Disease:
Meningioma, benign, no ICD-O subtype
0.010 GeneticVariation BEFREE Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1800067 (P(trend) .01); MUTYH rs3219466 (P(trend) .02), and PCNA rs25406 (P(trend) .03). 20150366 2010
dbSNP: rs1050525
rs1050525
Entrez Id: 5111;100302739
Gene Symbol: PCNA;PCNA-AS1
PCNA;PCNA-AS1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The present case-control study with 390 north Indian women (155 breast cancer cases and 235 controls) was aimed to investigate the association of seven nonsynonymous BER gene polymorphisms viz. rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs4989588/T3337A (FEN1), rs4989586/ G3259A (FEN1), rs4989587/C3315T (FEN1), and rs1050525/G6941T (PCNA) with breast cancer susceptibility. 18669164 2008
dbSNP: rs1050525
rs1050525
Entrez Id: 5111;100302739
Gene Symbol: PCNA;PCNA-AS1
PCNA;PCNA-AS1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE The present case-control study with 390 north Indian women (155 breast cancer cases and 235 controls) was aimed to investigate the association of seven nonsynonymous BER gene polymorphisms viz. rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs4989588/T3337A (FEN1), rs4989586/ G3259A (FEN1), rs4989587/C3315T (FEN1), and rs1050525/G6941T (PCNA) with breast cancer susceptibility. 18669164 2008
dbSNP: rs771828986
rs771828986
Entrez Id: 5111;100302739
Gene Symbol: PCNA;PCNA-AS1
PCNA;PCNA-AS1
CUI: C0032131
Disease:
Plasmacytoma
0.010 GeneticVariation BEFREE When tested with wild-type (DBA/2) p16, both A134C and G232A BALB/c-specific variants of p16 were inefficient in their ability to inhibit the activity of cyclin D2/CDK4 in kinase assays with retinoblastoma protein, suggesting this defective, inherited allele plays an important role in the genetic susceptibility of BALB/c mice for plasmacytoma induction and that p16(INK4a) is a strong candidate for the Pctr1 locus. 9482902 1998