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: rs756677845
rs756677845
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0242422
Disease:
Parkinsonian Disorders
C 0.700 CausalMutation CLINVAR
dbSNP: rs74315356
rs74315356
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0242422
Disease:
Parkinsonian Disorders
0.030 GeneticVariation BEFREE In the present study we analysed fibroblasts from a patient carrying the homozygous mutation p.W437X in the PTEN-induced kinase 1 (PINK1), which manifested a very early onset parkinsonism. 18524835 2008
dbSNP: rs74315356
rs74315356
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0242422
Disease:
Parkinsonian Disorders
0.030 GeneticVariation BEFREE In the present study mitochondrial respiratory function of fibroblasts from a patient affected by early-onset parkinsonism carrying the homozygous W437X nonsense mutation in the PINK1 gene has been thoroughly characterized. 18473170 2008
dbSNP: rs74315356
rs74315356
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0242422
Disease:
Parkinsonian Disorders
0.030 GeneticVariation BEFREE PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. 16700027 2006
dbSNP: rs74315360
rs74315360
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0242422
Disease:
Parkinsonian Disorders
0.010 GeneticVariation BEFREE From the clinical information available for the index case, the phenotype of mild, slowly-progressive Parkinsonism is consistent with previous reports of p.A217D disease and of PINK1 disease phenotype more generally. 28789629 2017
dbSNP: rs1426868527
rs1426868527
Entrez Id: 65018;102464833
Gene Symbol: PINK1;MIR6084
PINK1;MIR6084
CUI: C0242422
Disease:
Parkinsonian Disorders
0.010 GeneticVariation BEFREE The clinical phenotype comprised of asymmetrical onset, slowly progressive Parkinsonism with levodopa induced motor restlessness in a patient with the novel mutation (c.313 A > T, p. Ile105Phe) while subjects with c.293 G > A, p.Arg98Gln had early onset levodopa responsive symmetrical Parkinsonism. 27592010 2016
dbSNP: rs45467995
rs45467995
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0242422
Disease:
Parkinsonian Disorders
0.010 GeneticVariation BEFREE Four PINK1 homozygous mutations, three novel (Q129X, Q129fsX157, G440E, and one previously reported; Q456X), segregate with parkinsonism in 46 individuals in 14 of 92 families (15%). 18685134 2008
dbSNP: rs45539432
rs45539432
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0242422
Disease:
Parkinsonian Disorders
0.010 GeneticVariation BEFREE Four PINK1 homozygous mutations, three novel (Q129X, Q129fsX157, G440E, and one previously reported; Q456X), segregate with parkinsonism in 46 individuals in 14 of 92 families (15%). 18685134 2008
dbSNP: rs775809722
rs775809722
Entrez Id: 65018;102464833
Gene Symbol: PINK1;MIR6084
PINK1;MIR6084
CUI: C0242422
Disease:
Parkinsonian Disorders
0.010 GeneticVariation BEFREE Here, we describe a novel homozygous mutation (Q126P), identified in two affected German sisters with a clinical phenotype typical for PINK1-associated parkinsonism. 18286320 2008
dbSNP: rs28940285
rs28940285
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0242422
Disease:
Parkinsonian Disorders
0.010 GeneticVariation BEFREE We genotyped eight known mutations in three clinic-based cohorts with Parkinsonism and found one homozygous p.L347P mutation in PINK1. 17055324 2007