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
A 0.800 CausalMutation CLINVAR
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
A 0.800 CausalMutation CLINVAR
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
A 0.800 CausalMutation CLINVAR
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
T 0.800 CausalMutation CLINVAR
dbSNP: rs74315360
rs74315360
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
A 0.800 CausalMutation CLINVAR
dbSNP: rs1195888869
rs1195888869
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.700 GeneticVariation UNIPROT
dbSNP: rs138050841
rs138050841
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.700 GeneticVariation UNIPROT
dbSNP: rs1557561340
rs1557561340
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
G 0.700 CausalMutation CLINVAR
dbSNP: rs371854396
rs371854396
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C1621958
Disease:
Glioblastoma Multiforme
0.700 GeneticVariation UNIPROT
dbSNP: rs45539432
rs45539432
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
T 0.700 CausalMutation CLINVAR
dbSNP: rs730880302
rs730880302
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
AAGTT 0.700 CausalMutation CLINVAR
dbSNP: rs74315356
rs74315356
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
A 0.700 CausalMutation CLINVAR
dbSNP: rs74315361
rs74315361
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1970035
Disease:
PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO
C 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs750664040
rs750664040
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
CCAA 0.700 CausalMutation CLINVAR
dbSNP: rs756677845
rs756677845
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0242422
Disease:
Parkinsonian Disorders
C 0.700 CausalMutation CLINVAR
dbSNP: rs756783990
rs756783990
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
A 0.700 GeneticVariation CLINVAR
dbSNP: rs45539432
rs45539432
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C4275179
Disease:
Young onset Parkinson disease
0.020 GeneticVariation BEFREE Early-onset Parkinson's disease due to PINK1 p.Q456X mutation--clinical and functional study. 25226871 2014
dbSNP: rs74315355
rs74315355
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.070 GeneticVariation BEFREE Parkinson's disease-associated PINK1 G309D mutation increases abnormal phosphorylation of Tau. 25899925 2015
dbSNP: rs74315359
rs74315359
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C4275179
Disease:
Young onset Parkinson disease
0.010 GeneticVariation BEFREE T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. 17030667 2006
dbSNP: rs74315355
rs74315355
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.070 GeneticVariation BEFREE A G309D mutation in the PINK1 gene in a consanguineous Spanish kindred with seven siblings, three of whom are clinically affected, has recently been shown to be a cause of the PARK6 form of autosomal-recessive Parkinson's syndrome. 15785866 2005
dbSNP: rs17414302
rs17414302
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0021704
Disease:
Intelligence
A 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
dbSNP: rs3738136
rs3738136
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C3160718
Disease:
PARKINSON DISEASE, LATE-ONSET
0.010 GeneticVariation BEFREE A common A340T variant in PINK1 gene associated with late-onset Parkinson's disease in Chinese. 17084972 2006
dbSNP: rs748343847
rs748343847
Entrez Id: 65018;102464833
Gene Symbol: PINK1;MIR6084
PINK1;MIR6084
CUI: C0030567
Disease:
Parkinson Disease
0.020 GeneticVariation BEFREE A missense mutation of SNCA (A53T) was found in a familial PD with autosomal dominant inheritance. 18704525 2008
dbSNP: rs778009684
rs778009684
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Among all lung cancer-linked mutants that we tested, A46T Parkin failed to translocate onto mitochondria and could not recruit downstream mitophagic regulators, including optineurin (OPTN) and TFEB, whereas N254S and R275W Parkin displayed slower mitochondrial translocation than WT Parkin. 31285534 2020
dbSNP: rs778009684
rs778009684
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Among all lung cancer-linked mutants that we tested, A46T Parkin failed to translocate onto mitochondria and could not recruit downstream mitophagic regulators, including optineurin (OPTN) and TFEB, whereas N254S and R275W Parkin displayed slower mitochondrial translocation than WT Parkin. 31285534 2020