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 Ubiquitin is phosphorylated by PINK1 to activate parkin. 24784582 2014
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 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling. 24652937 2014
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 Ubiquitin is phosphorylated by PINK1 to activate parkin. 24784582 2014
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 PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling. 24652937 2014
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 Ubiquitin is phosphorylated by PINK1 to activate parkin. 24784582 2014
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 Ubiquitin is phosphorylated by PINK1 to activate parkin. 24784582 2014
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 PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling. 24652937 2014
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 PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling. 24652937 2014
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 Ubiquitin is phosphorylated by PINK1 to activate parkin. 24784582 2014
dbSNP: rs74315360
rs74315360
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
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: rs74315360
rs74315360
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
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 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
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
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 Characterization of PINK1 (PTEN-induced putative kinase 1) mutations associated with Parkinson disease in mammalian cells and Drosophila. 23303188 2013
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 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
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 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
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 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
dbSNP: rs74315360
rs74315360
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
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 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
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 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
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 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
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 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
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 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
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 Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. 22956510 2012