Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling. 24652937

2014

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT Ubiquitin is phosphorylated by PINK1 to activate parkin. 24784582

2014

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 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

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT Bioenergetic consequences of PINK1 mutations in Parkinson disease. 22043288

2011

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations. 20798600

2010

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. 19229105

2009

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation. 18286320

2008

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. 16401616

2006

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease. 16632486

2006

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. 17030667

2006

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT PINK1 mutations in sporadic early-onset Parkinson's disease. 16482571

2006

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. 16966503

2006

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. 16257123

2006

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. 16009891

2005

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT Analysis of PINK1 in Asian patients with familial parkinsonism. 16207217

2005

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. 15970950

2005

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. 16207731

2005

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. 15955953

2005

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT PINK1 mutations are associated with sporadic early-onset parkinsonism. 15349860

2004

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT Novel PINK1 mutations in early-onset parkinsonism. 15349870

2004

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT Hereditary early-onset Parkinson's disease caused by mutations in PINK1. 15087508

2004

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT PINK1 (PARK6) associated Parkinson disease in Ireland. 15505171

2004

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation UNIPROT Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. 15596610

2004

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.300 GeneticVariation UNIPROT