DisGeNET - a database of gene-disease associations

Parkinson Disease 6, Autosomal Recessive Early-Onset, C1853833

Gene: PINK1 ×

Source: UNIPROT ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs28940284

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling.

24652937

2014

dbSNP:

rs28940284

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

Ubiquitin is phosphorylated by PINK1 to activate parkin.

24784582

2014

dbSNP:

rs28940285

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling.

24652937

2014

dbSNP:

rs28940285

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

Ubiquitin is phosphorylated by PINK1 to activate parkin.

24784582

2014

dbSNP:

rs74315355

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

Ubiquitin is phosphorylated by PINK1 to activate parkin.

24784582

2014

dbSNP:

rs74315355

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling.

24652937

2014

dbSNP:

rs74315358

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling.

24652937

2014

dbSNP:

rs74315358

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

Ubiquitin is phosphorylated by PINK1 to activate parkin.

24784582

2014

dbSNP:

rs74315359

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

Ubiquitin is phosphorylated by PINK1 to activate parkin.

24784582

2014

dbSNP:

rs74315359

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling.

24652937

2014

dbSNP:

rs74315360

PINK1

0.800

GeneticVariation

UNIPROT

PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling.

24652937

2014

dbSNP:

rs74315360

PINK1

0.800

GeneticVariation

UNIPROT

Ubiquitin is phosphorylated by PINK1 to activate parkin.

24784582

2014

dbSNP:

rs28940284

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

23279440

2013

dbSNP:

rs28940285

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

23279440

2013

dbSNP:

rs74315355

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

23279440

2013

dbSNP:

rs74315358

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

23279440

2013

dbSNP:

rs74315359

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

23279440

2013

dbSNP:

rs74315360

PINK1

0.800

GeneticVariation

UNIPROT

EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

23279440

2013

dbSNP:

rs28940284

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

22956510

2012

dbSNP:

rs28940285

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

22956510

2012

dbSNP:

rs74315355

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

22956510

2012

dbSNP:

rs74315358

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

22956510

2012

dbSNP:

rs74315359

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

22956510

2012

dbSNP:

rs74315360

PINK1

0.800

GeneticVariation

UNIPROT

Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

22956510

2012

dbSNP:

rs28940284

PINK1 ; PINK1-AS

0.800

GeneticVariation

UNIPROT

Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.

19229105

2009