PINK1, PTEN induced kinase 1, 65018

N. diseases: 209; N. variants: 39
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling. 24652937 2014
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
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
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. 15955953 2005
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT Analysis of PINK1 in Asian patients with familial parkinsonism. 16207217 2005
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. 16207731 2005
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. 15596610 2004
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT Novel PINK1 mutations in early-onset parkinsonism. 15349870 2004
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease. 16632486 2006
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. 15970950 2005
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. 17030667 2006
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation. 18286320 2008
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. 19229105 2009
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT Hereditary early-onset Parkinson's disease caused by mutations in PINK1. 15087508 2004
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT PINK1 mutations are associated with sporadic early-onset parkinsonism. 15349860 2004
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT PINK1 mutations in sporadic early-onset Parkinson's disease. 16482571 2006
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT Ubiquitin is phosphorylated by PINK1 to activate parkin. 24784582 2014
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. 16009891 2005
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. 16401616 2006
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. 16257123 2006
dbSNP: rs28940284
rs28940284
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT PINK1 (PARK6) associated Parkinson disease in Ireland. 15505171 2004
dbSNP: rs28940285
rs28940285
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. 16257123 2006
dbSNP: rs28940285
rs28940285
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT PINK1 (PARK6) associated Parkinson disease in Ireland. 15505171 2004
dbSNP: rs28940285
rs28940285
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. 15970950 2005
dbSNP: rs28940285
rs28940285
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013