PACRG, parkin coregulated, 135138

N. diseases: 19; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397518439
rs397518439
Entrez Id: 5071;135138
Gene Symbol: PRKN;PACRG
PRKN;PACRG
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
A 0.700 CausalMutation CLINVAR
dbSNP: rs9356058
rs9356058
Entrez Id: 135138
Gene Symbol: PACRG
PACRG
CUI: C0023343
Disease:
Leprosy
0.020 GeneticVariation BEFREE Multivariate analysis identified three SNPs (rs1333955, rs9356058 and rs2023004) that capture the association with leprosy (P < 10(-8)). 23052943 2013
dbSNP: rs1040079
rs1040079
Entrez Id: 135138
Gene Symbol: PACRG
PACRG
CUI: C0023343
Disease:
Leprosy
0.020 GeneticVariation BEFREE The results of our study show the association of polymorphisms rs9356058 and rs1040079 in gene PARK2/PACRG with leprosy. 21816242 2012
dbSNP: rs9356058
rs9356058
Entrez Id: 135138
Gene Symbol: PACRG
PACRG
CUI: C0023343
Disease:
Leprosy
0.020 GeneticVariation BEFREE The results of our study indicate that exposure to leprosy and mortality in the population caused by leprosy on Mljet resulted in the selection of rs9356058 "protective" C allele in the PARK2 gene, while this was not observed in the two control groups. 21816242 2012
dbSNP: rs9347683
rs9347683
Entrez Id: 5071;135138
Gene Symbol: PRKN;PACRG
PRKN;PACRG
CUI: C3160718
Disease:
PARKINSON DISEASE, LATE-ONSET
0.020 GeneticVariation BEFREE A functional SNP (rs9347683) in the promoter region of the parkin gene had been implicated as a risk factor in older Parkinson's disease (PD) patients. 21176923 2011
dbSNP: rs9347683
rs9347683
Entrez Id: 5071;135138
Gene Symbol: PRKN;PACRG
PRKN;PACRG
CUI: C0030567
Disease:
Parkinson Disease
0.020 GeneticVariation BEFREE A functional SNP (rs9347683) in the promoter region of the parkin gene had been implicated as a risk factor in older Parkinson's disease (PD) patients. 21176923 2011
dbSNP: rs9347683
rs9347683
Entrez Id: 5071;135138
Gene Symbol: PRKN;PACRG
PRKN;PACRG
CUI: C0030567
Disease:
Parkinson Disease
0.020 GeneticVariation BEFREE In addition, homozygosity for the minor allele of rs9347683 may significantly reduce the age of onset of PD. 18387843 2009
dbSNP: rs9347683
rs9347683
Entrez Id: 5071;135138
Gene Symbol: PRKN;PACRG
PRKN;PACRG
CUI: C3160718
Disease:
PARKINSON DISEASE, LATE-ONSET
0.020 GeneticVariation BEFREE A single nucleotide polymorphism in the promoter region (PRKN-258; rs9347683) has been observed to associate with PD, affect age-at-onset (AAO) of symptoms, and to functionally effect differential expression of the PRKN transcript. 17400506 2007
dbSNP: rs1040079
rs1040079
Entrez Id: 135138
Gene Symbol: PACRG
PACRG
CUI: C0023343
Disease:
Leprosy
0.020 GeneticVariation BEFREE The T allele of SNPs PARK2_e01 (-2599) showed a significant recessive effect (P=0.04) in susceptibility to leprosy in Indian population as against the dominant effect of haplotype T-C of the major risk SNPs PARK2_e01 (-2599) and rs1040079 in Brazilian and Vietnamese population. 16391553 2006
dbSNP: rs2276201
rs2276201
Entrez Id: 5071;135138
Gene Symbol: PRKN;PACRG
PRKN;PACRG
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE The TC genotype (OR: 1.855, 95% CI: 1.021-3.369, P = 0.043), CC genotype (OR: 1.617, 95% CI: 1.042-2.510, P = 0.032), TT vs CT+CC genetic model (OR: 1.60, P = 0.0158) and allelic model (OR: 1.3931, 95% CI: 1.0498-1.8485, P = 0.0214) of rs2276201 showed significant risk for CRC. 30296568 2019
dbSNP: rs9347683
rs9347683
Entrez Id: 5071;135138
Gene Symbol: PRKN;PACRG
PRKN;PACRG
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Here we provide the first report where PARK2 promoter SNP's rs2276201 and rs9347683 are shown to be significantly associated with the risk of CRC development. 30296568 2019
dbSNP: rs1333955
rs1333955
Entrez Id: 135138
Gene Symbol: PACRG
PACRG
CUI: C0085568
Disease:
Buruli Ulcer
0.010 GeneticVariation BEFREE The rs1333955 SNP in PARK2 was significantly associated with increased susceptibility to BU [odds ratio (OR), 1.43; P = 0.05]. 27128681 2016
dbSNP: rs1333955
rs1333955
Entrez Id: 135138
Gene Symbol: PACRG
PACRG
CUI: C0023343
Disease:
Leprosy
0.010 GeneticVariation BEFREE Multivariate analysis identified three SNPs (rs1333955, rs9356058 and rs2023004) that capture the association with leprosy (P < 10(-8)). 23052943 2013
dbSNP: rs1040079
rs1040079
Entrez Id: 135138
Gene Symbol: PACRG
PACRG
CUI: C0041466
Disease:
Typhoid Fever
0.010 GeneticVariation BEFREE The PARK2_e01(-2599) allele T was significantly associated with typhoid and paratyphoid fever (OR: 1.51, 95%CI: 1.02-2.23) but the other polymorphisms, PARK2_e01(-697), rs1333955 and rs1040079, were not associated. 16734611 2006
dbSNP: rs1040079
rs1040079
Entrez Id: 135138
Gene Symbol: PACRG
PACRG
CUI: C0030528
Disease:
Paratyphoid Fever
0.010 GeneticVariation BEFREE The PARK2_e01(-2599) allele T was significantly associated with typhoid and paratyphoid fever (OR: 1.51, 95%CI: 1.02-2.23) but the other polymorphisms, PARK2_e01(-697), rs1333955 and rs1040079, were not associated. 16734611 2006
dbSNP: rs1333955
rs1333955
Entrez Id: 135138
Gene Symbol: PACRG
PACRG
CUI: C0041466
Disease:
Typhoid Fever
0.010 GeneticVariation BEFREE The PARK2_e01(-2599) allele T was significantly associated with typhoid and paratyphoid fever (OR: 1.51, 95%CI: 1.02-2.23) but the other polymorphisms, PARK2_e01(-697), rs1333955 and rs1040079, were not associated. 16734611 2006
dbSNP: rs1333955
rs1333955
Entrez Id: 135138
Gene Symbol: PACRG
PACRG
CUI: C0030528
Disease:
Paratyphoid Fever
0.010 GeneticVariation BEFREE The PARK2_e01(-2599) allele T was significantly associated with typhoid and paratyphoid fever (OR: 1.51, 95%CI: 1.02-2.23) but the other polymorphisms, PARK2_e01(-697), rs1333955 and rs1040079, were not associated. 16734611 2006