PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023343
Disease: Leprosy
Leprosy
0.100 GeneticVariation disease BEFREE Since the discovery of the Parkin gene in the late 1990s, researchers in many countries have begun extensive research on this gene and found that in addition to AR-JP, the Parkin gene is associated with many diseases, including type 2 diabetes, leprosy, Alzheimer's, autism, and cancer. 31753025 2019
CUI: C0023343
Disease: Leprosy
Leprosy
0.100 Biomarker disease BEFREE We also sequenced the entire exons of PARL, PINK1 and PARK2 in 80 patients with a family history of leprosy by using the next generation sequencing technology (NGS). 27876828 2016
CUI: C0023343
Disease: Leprosy
Leprosy
0.100 Biomarker disease BEFREE Interaction analysis between PARK2 and significant SNPs of anti-inflammatory/proinflammatory cytokine genes, including BAT1 to BTNL2-DR spanning the HLA (6p21.3) region in a case-control comparison, showed that the combined analysis of: (1) PARK2, tumour necrosis factor (TNF), BTNL2-DR, interleukin (IL)-10, IL-6 and TGFBR2 increased the risk towards leprosy (OR=2.54); (2) PARK2, BAT1, NFKBIL1, LTA, TNF-LTB, IL12B and IL10RB provided increased protection (OR=0.26) in comparison with their individual contribution. 24578538 2014
CUI: C0023343
Disease: Leprosy
Leprosy
0.100 Biomarker disease BEFREE Here, we conducted high-density association mapping of PARK2/PACRG SNPs with leprosy and identified 69 SNPs significantly associated with leprosy in 198 single-case Vietnamese leprosy families. 23052943 2013
CUI: C0023343
Disease: Leprosy
Leprosy
0.100 GeneticVariation disease BEFREE Mapping of the PARK2 and PACRG gene regulatory region with 96 SNPs, with a resolution of 1 SNP per 1 Kb for PARK2 gene regulatory region in a North Indian population, showed an involvement of 11 SNPs in determining the susceptibility towards leprosy. 23861666 2013
CUI: C0023343
Disease: Leprosy
Leprosy
0.100 GeneticVariation disease BEFREE The results of our study show the association of polymorphisms rs9356058 and rs1040079 in gene PARK2/PACRG with leprosy. 21816242 2012
CUI: C0023343
Disease: Leprosy
Leprosy
0.100 GeneticVariation disease BEFREE The noninvolvement of major risk SNPs in the regulatory region of PARK2 and PACRG locus with leprosy susceptibility in Indian population highlights the differential effect of these SNPs in regulating genetic susceptibility to leprosy in different populations. 16391553 2006
CUI: C0023343
Disease: Leprosy
Leprosy
0.100 GeneticVariation disease BEFREE Although within the PARK2/PACRG gene cluster the PARK2_e01(-2599) allele T was most strongly associated with leprosy (OR approximately 3-5), the association with typhoid is much less strong. 16734611 2006
CUI: C0023343
Disease: Leprosy
Leprosy
0.100 Biomarker disease BEFREE With respect to genome-wide screens, a major breakthrough has been reported this year; variants in the regulatory region shared by PARK2 and PACRG have been identified as being common risk factors for leprosy. 15653309 2005
CUI: C0023343
Disease: Leprosy
Leprosy
0.100 GeneticVariation disease BEFREE Variants in the regulatory region shared by PARK2 and PACRG therefore act as common risk factors for leprosy. 14737177 2004