Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group LHGDN We investigated 11 consanguineous families comprising 17 affected with recessively inherited young-onset parkinsonism for mutations both in the parkin and PINK1 gene. 19087301 2008
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Recent data has demonstrated that mutations in PINK1, encoding PTEN-induced kinase 1, are a cause of early onset recessive parkinsonism (PARK6 locus). 16046032 2006
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Mutations in Parkin or PINK1 are the most common cause of recessively inherited parkinsonism. 23459931 2013
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group 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
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. 16401616 2006
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Mutations in the Parkin and PINK1 genes can cause parkinsonism. 17724286 2007
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism. 15349859 2004
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE To investigate a possible association of mutations in the PTEN-induced putative kinase 1 (PINK1) gene with psychiatric disorders in a large family with monogenic parkinsonism. 17202228 2007
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE These findings confirm that recessive mutations in PINK1 cause early-onset parkinsonism and expand the associated clinical phenotype. 15349871 2004
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group LHGDN These findings further expand the clinical spectrum of PINK1-related parkinsonism to include late onset, typical PD, and underline the existing difficulties in discriminating between mendelian parkinsonism and idiopathic PD. 18307263 2008
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE We genotyped eight known mutations in three clinic-based cohorts with Parkinsonism and found one homozygous p.L347P mutation in PINK1. 17055324 2007
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism. 21925922 2012
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Parkinsonism due to mutations in PINK1, parkin, and DJ-1 and oxidative stress and mitochondrial pathways. 22951446 2012
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group 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
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Loss-of-function mutation in PINK1 is known for causing autosomal recessive early onset Parkinsonism accounting approximately 6.5% of PD cases. 26282903 2015
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Loss-of-function mutations in PINK1 and Parkin cause parkinsonism in humans and mitochondrial dysfunction in model organisms. 20126261 2010
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. 16700027 2006
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. 16009891 2005
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Three types of hereditary complex I dysfunction are dealt with: (i) homozygous mutations in the nuclear genes NDUFS1 and NDUFS4 of complex I, associated with mitochondrial encephalopathy; (ii) a recessive hereditary epileptic neurological disorder associated with enhanced proteolytic degradation of complex I; (iii) homoplasmic mutations in the ND5 and ND6 mitochondrial genes of the complex, coexistent with mutation in the nuclear PINK1 gene in familial Parkinsonism. 19210954 2009
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE These results underscore the relevance of the PINK1/Parkin-mediated mitochondrial quality control pathway in primary neurons and shed further light on the underlying mechanisms of the PINK1 and Parkin pathogenic mutations that predispose Parkinsonism in vivo. 23751051 2013
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Mutations in the PARK2 and PARK6 genes, coding for the cytosolic E3 ubiquitin protein ligase Parkin and the mitochondrial serine/threonine kinase PINK1 [phosphatase and tensin homologue (PTEN)-induced putative kinase 1], lead to clinically similar early-onset Parkinsonian syndromes. 25849933 2015
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group LHGDN These findings indicate that PINK1 mutation might modify parkin mutation-positive Parkinsonism, and PINK1 mutations might be associated with psychiatric disorders. 18546294 2008
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group 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
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group LHGDN Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. 16009891 2005
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Mutations in autosomal recessively inherited genes, namely parkin, PINK1 and DJ-1, typically lead to early onset parkinsonism. 20421364 2010