PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751037529
rs751037529
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.810 GeneticVariation BEFREE The homozygous variant, c.850G>C (p.G284R), in the parkin gene is possibly responsible for AR-JP in this pedigree. 27177722 2016
dbSNP: rs751037529
rs751037529
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.810 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
dbSNP: rs751037529
rs751037529
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		G 0.810 CausalMutation CLINVAR
dbSNP: rs147757966
rs147757966
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 CausalMutation CLINVAR Covalent ISG15 conjugation positively regulates the ubiquitin E3 ligase activity of parkin. 27534820 2016
dbSNP: rs147757966
rs147757966
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 CausalMutation CLINVAR Interaction between RING1 (R1) and the Ubiquitin-like (UBL) Domains Is Critical for the Regulation of Parkin Activity. 26631732 2016
dbSNP: rs137853054
rs137853054
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		A 0.800 CausalMutation CLINVAR Parkinson's Disease in Saudi Patients: A Genetic Study. 26274610 2015
dbSNP: rs137853054
rs137853054
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		A 0.800 CausalMutation CLINVAR Genomic and Functional Analysis of the E3 Ligase PARK2 in Glioma. 25877876 2015
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 GeneticVariation CLINVAR Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin. 25939424 2015
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		A 0.800 CausalMutation CLINVAR Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts. 25815004 2015
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		A 0.800 CausalMutation CLINVAR The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants. 25907632 2015
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		A 0.800 CausalMutation CLINVAR Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease. 26188007 2015
dbSNP: rs147757966
rs147757966
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 CausalMutation CLINVAR Phosphorylation of Parkin at Serine65 is essential for activation: elaboration of a Miro1 substrate-based assay of Parkin E3 ligase activity. 24647965 2014
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		A 0.800 CausalMutation CLINVAR Mutation analysis of PARK2 in a Uyghur family with early-onset Parkinson's disease in Xinjiang, China. 24831986 2014
dbSNP: rs137853054
rs137853054
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		A 0.800 CausalMutation CLINVAR Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease. 24167364 2013
dbSNP: rs137853054
rs137853054
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		A 0.800 CausalMutation CLINVAR Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease. 23275044 2013
dbSNP: rs137853054
rs137853054
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
dbSNP: rs137853057
rs137853057
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
dbSNP: rs137853058
rs137853058
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
dbSNP: rs137853060
rs137853060
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
dbSNP: rs147757966
rs147757966
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 CausalMutation CLINVAR A molecular explanation for the recessive nature of parkin-linked Parkinson's disease. 23770917 2013
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 CausalMutation CLINVAR The principal PINK1 and Parkin cellular events triggered in response to dissipation of mitochondrial membrane potential occur in primary neurons. 23751051 2013
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 GeneticVariation CLINVAR Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation. 23818421 2013
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
dbSNP: rs397514694
rs397514694
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013