PACRG, parkin coregulated, 135138

N. diseases: 19; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.100 CausalMutation disease CLINVAR
CUI: C0023343
Disease: Leprosy
Leprosy 		0.070 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 		0.070 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 		0.070 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 		0.070 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 		0.070 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 		0.070 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 		0.070 Biomarker disease BEFREE Variants in the regulatory region shared by PARK2 and PACRG therefore act as common risk factors for leprosy. 14737177 2004
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.030 Biomarker disease LHGDN Parkin Co-Regulated Gene (PACRG) is regulated by the ubiquitin-proteasomal system and is present in the pathological features of Parkinsonian diseases. 17590346 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.030 AlteredExpression disease BEFREE 80 kilobases overlapping the 5' regulatory region shared by the Parkinson's disease gene PARK2 and the co-regulated gene PACRG. 14737177 2004
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.030 Biomarker disease LHGDN A product of the human gene adjacent to parkin is a component of Lewy bodies and suppresses Pael receptor-induced cell death. 14532270 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE Patients without PACRG mRNA expression in the tumor had a shorter disease-free survival and OS than those with tumors expressing PACRG. 23125027 2013
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 AlteredExpression disease BEFREE PARK2 and PACRG are commonly downregulated in clear-cell renal cell carcinoma and are associated with aggressive disease and poor clinical outcome. 23125027 2013
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 AlteredExpression disease BEFREE As assessed by quantitative polymerase chain reaction, PARK2 and PACRG were down-regulated in 57% and 100%, respectively, and CSF1R was up-regulated in 69% of the cc-RCC cases (concordance with SNP array data in 57%, 33%, and 38%). 18592004 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE In conclusion, our results demonstrate for the first time that the candidate tumor suppressor genes PARK2 and PACRG are epigenetically regulated in human leukemia, suggesting that abnormal methylation and regulation of PARK2 and PACRG may play a role in the pathogenesis and development of this hematological neoplasm. 16287063 2006
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 GeneticVariation disease LHGDN [Study of the polymorphic markers--the PARK2 and PACRG genes due to the incidence of pulmonary tuberculosis in two districts of the Republic of Tyva]. 17722288 2007
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.010 PosttranslationalModification group BEFREE Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism. 17068781 2007
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.010 GeneticVariation disease BEFREE Abnormal methylation of the common promoter of PARK2 and PACRG was observed in 26% of patients with acute lymphoblastic leukemia and 20% of patients with chronic myelogenous leukemia (CML) in lymphoid blast crisis, but not in ovarian, breast, lung, neuroblastoma, astrocytoma or colon cancer cells. 16287063 2006
CUI: C0023418
Disease: leukemia
leukemia 		0.010 GeneticVariation disease LHGDN In conclusion, our results demonstrate for the first time that the candidate tumor suppressor genes PARK2 and PACRG are epigenetically regulated in human leukemia, suggesting that abnormal methylation and regulation of PARK2 and PACRG may play a role in the pathogenesis and development of this hematological neoplasm. 16287063 2006
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 Biomarker disease BEFREE Abnormal methylation of the common promoter of PARK2 and PACRG was observed in 26% of patients with acute lymphoblastic leukemia and 20% of patients with chronic myelogenous leukemia (CML) in lymphoid blast crisis, but not in ovarian, breast, lung, neuroblastoma, astrocytoma or colon cancer cells. 16287063 2006
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 GeneticVariation disease BEFREE Abnormal methylation of the common promoter of PARK2 and PACRG was observed in 26% of patients with acute lymphoblastic leukemia and 20% of patients with chronic myelogenous leukemia (CML) in lymphoid blast crisis, but not in ovarian, breast, lung, neuroblastoma, astrocytoma or colon cancer cells. 16287063 2006
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 Biomarker disease BEFREE Abnormal methylation of the common promoter of PARK2 and PACRG was observed in 26% of patients with acute lymphoblastic leukemia and 20% of patients with chronic myelogenous leukemia (CML) in lymphoid blast crisis, but not in ovarian, breast, lung, neuroblastoma, astrocytoma or colon cancer cells. 16287063 2006
CUI: C0030528
Disease: Paratyphoid Fever
Paratyphoid Fever 		0.010 GeneticVariation disease BEFREE PARK2/PACRG polymorphisms and susceptibility to typhoid and paratyphoid fever. 16734611 2006
CUI: C0041466
Disease: Typhoid Fever
Typhoid Fever 		0.010 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: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.010 PosttranslationalModification group BEFREE In conclusion, our results demonstrate for the first time that the candidate tumor suppressor genes PARK2 and PACRG are epigenetically regulated in human leukemia, suggesting that abnormal methylation and regulation of PARK2 and PACRG may play a role in the pathogenesis and development of this hematological neoplasm. 16287063 2006