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: rs74315360
rs74315360
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
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 Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. 19229105 2009
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 Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. 19229105 2009
dbSNP: rs74315355
rs74315355
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: rs74315358
rs74315358
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: rs74315359
rs74315359
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: rs74315360
rs74315360
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
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 Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation. 18286320 2008
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 Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation. 18286320 2008
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
C 0.800 CausalMutation CLINVAR L347P PINK1 mutant that fails to bind to Hsp90/Cdc37 chaperones is rapidly degraded in a proteasome-dependent manner. 18359116 2008
dbSNP: rs74315355
rs74315355
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: rs74315358
rs74315358
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: rs74315359
rs74315359
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: rs74315360
rs74315360
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
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: rs28940285
rs28940285
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
C 0.800 CausalMutation CLINVAR PINK1 protects against oxidative stress by phosphorylating mitochondrial chaperone TRAP1. 17579517 2007
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
C 0.800 CausalMutation CLINVAR Novel features in a patient homozygous for the L347P mutation in the PINK1 gene. 17055324 2007
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 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 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 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: 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 Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease. 16632486 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 mutations in sporadic early-onset Parkinson's disease. 16482571 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 T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. 17030667 2006