DisGeNET - a database of gene-disease associations

PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88

Disease: PARKINSON DISEASE, LATE-ONSET ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs150562946

Entrez Id:	5071
Gene Symbol:	PRKN

PRKN

CUI:	C3160718
Disease:

PARKINSON DISEASE, LATE-ONSET

0.700

GeneticVariation

UNIPROT

Synaptotagmin-11 is a critical mediator of parkin-linked neurotoxicity and Parkinson's disease-like pathology.

29311685

2018

dbSNP:

rs34424986

Entrez Id:	5071
Gene Symbol:	PRKN

PRKN

CUI:	C3160718
Disease:

PARKINSON DISEASE, LATE-ONSET

0.700

GeneticVariation

UNIPROT

Synaptotagmin-11 is a critical mediator of parkin-linked neurotoxicity and Parkinson's disease-like pathology.

29311685

2018

dbSNP:

rs368134308

Entrez Id:	5071
Gene Symbol:	PRKN

PRKN

CUI:	C3160718
Disease:

PARKINSON DISEASE, LATE-ONSET

0.700

GeneticVariation

UNIPROT

Synaptotagmin-11 is a critical mediator of parkin-linked neurotoxicity and Parkinson's disease-like pathology.

29311685

2018

dbSNP:

rs72480422

Entrez Id:	5071
Gene Symbol:	PRKN

PRKN

CUI:	C3160718
Disease:

PARKINSON DISEASE, LATE-ONSET

0.700

GeneticVariation

UNIPROT

Synaptotagmin-11 is a critical mediator of parkin-linked neurotoxicity and Parkinson's disease-like pathology.

29311685

2018

dbSNP:

rs150562946

Entrez Id:	5071
Gene Symbol:	PRKN

PRKN

CUI:	C3160718
Disease:

PARKINSON DISEASE, LATE-ONSET

0.700

GeneticVariation

UNIPROT

PINK1-dependent recruitment of Parkin to mitochondria in mitophagy.

19966284

2010

dbSNP:

rs34424986

Entrez Id:	5071
Gene Symbol:	PRKN

PRKN

CUI:	C3160718
Disease:

PARKINSON DISEASE, LATE-ONSET

0.700

GeneticVariation

UNIPROT

PINK1-dependent recruitment of Parkin to mitochondria in mitophagy.

19966284

2010

dbSNP:

rs368134308

Entrez Id:	5071
Gene Symbol:	PRKN

PRKN

CUI:	C3160718
Disease:

PARKINSON DISEASE, LATE-ONSET

0.700

GeneticVariation

UNIPROT

PINK1-dependent recruitment of Parkin to mitochondria in mitophagy.

19966284

2010

dbSNP:

rs72480422

Entrez Id:	5071
Gene Symbol:	PRKN

PRKN

CUI:	C3160718
Disease:

PARKINSON DISEASE, LATE-ONSET

0.700

GeneticVariation

UNIPROT

PINK1-dependent recruitment of Parkin to mitochondria in mitophagy.

19966284

2010

dbSNP:

rs150562946

Entrez Id:	5071
Gene Symbol:	PRKN

PRKN

CUI:	C3160718
Disease:

PARKINSON DISEASE, LATE-ONSET

0.700

GeneticVariation

UNIPROT

Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.

12730996

2003

dbSNP:

rs150562946

Entrez Id:	5071
Gene Symbol:	PRKN

PRKN

CUI:	C3160718
Disease:

PARKINSON DISEASE, LATE-ONSET

0.700

GeneticVariation

UNIPROT

Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.

12629236

2003

dbSNP:

rs34424986

Entrez Id:	5071
Gene Symbol:	PRKN

PRKN

CUI:	C3160718
Disease:

PARKINSON DISEASE, LATE-ONSET

0.700

GeneticVariation

UNIPROT

Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.

12629236

2003

dbSNP:

rs34424986

Entrez Id:	5071
Gene Symbol:	PRKN

PRKN

CUI:	C3160718
Disease:

PARKINSON DISEASE, LATE-ONSET

0.700

GeneticVariation

UNIPROT

Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.

12730996

2003

dbSNP:

rs368134308

Entrez Id:	5071
Gene Symbol:	PRKN

PRKN

CUI:	C3160718
Disease:

PARKINSON DISEASE, LATE-ONSET

0.700

GeneticVariation

UNIPROT

Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.

12730996

2003

dbSNP:

rs368134308

Entrez Id:	5071
Gene Symbol:	PRKN

PRKN

CUI:	C3160718
Disease:

PARKINSON DISEASE, LATE-ONSET

0.700

GeneticVariation

UNIPROT

Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.

12629236

2003

dbSNP:

rs72480422

Entrez Id:	5071
Gene Symbol:	PRKN

PRKN

CUI:	C3160718
Disease:

PARKINSON DISEASE, LATE-ONSET

0.700

GeneticVariation

UNIPROT

Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.

12629236

2003

dbSNP:

rs72480422

Entrez Id:	5071
Gene Symbol:	PRKN

PRKN

CUI:	C3160718
Disease:

PARKINSON DISEASE, LATE-ONSET

0.700

GeneticVariation

UNIPROT

Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.

12730996

2003

dbSNP:

rs747427602

Entrez Id:	5071
Gene Symbol:	PRKN

PRKN

CUI:	C3160718
Disease:

PARKINSON DISEASE, LATE-ONSET

0.700

GeneticVariation

UNIPROT

dbSNP:

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

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