Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 Biomarker group BEFREE Our data indicate that olfactory dysfunction is common in PINK1 Parkinsonism and consists typically in defective odor identification and discrimination. 19890973 2010
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group BEFREE Mitochondrial respiratory dysfunction and mutations in mitochondrial DNA in PINK1 familial parkinsonism. 19904588 2010
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 Biomarker group BEFREE Parkin and PINK1 parkinsonism may represent nigral mitochondrial cytopathies distinct from Lewy body Parkinson's disease. 19815446 2010
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group LHGDN The PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism is identified two novel putative pathogenic substitutions, P416R and S419P, located in a conserved motif of the serine/threonine kinase domain. 19087301 2009
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group BEFREE The aim of this study was to elucidate whether sensory abnormalities are present and may precede motor symptoms in familial parkinsonism by characterizing sensory function in symptomatic and asymptomatic PINK1 mutation carriers. 19372294 2009
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group BEFREE Our results further extend on the involvement of PINK1 mutations in recessive early-onset parkinsonism with clinical features similar to carriers of parkin mutations. 19087301 2009
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 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
0.500 GeneticVariation group BEFREE Mutations in PTEN-induced kinase 1 (PINK1) are associated with familial parkinsonism and neuropsychiatric disorders. 19279012 2009
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 Biomarker group BEFREE This review highlights the role of the mitochondrial kinase, PINK1, in protection against mitochondrial dysfunction and how this might relate to loss of substantia nigra neurons in recessive parkinsonism. 19703660 2009
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group BEFREE Deficits in temporal processing might be considered as subclinical signs of alteration at least in PINK1-related parkinsonism. 18584234 2009
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 Biomarker group BEFREE This is in contrast to the higher frequencies and worldwide distribution of parkin- and PINK1-related parkinsonism in ARP and sporadic parkinsonism. 19429112 2009
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group BEFREE Mitochondrial respiratory dysfunction in familiar parkinsonism associated with PINK1 mutation. 18473170 2009
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 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
0.500 GeneticVariation group BEFREE Familial Parkinsonism with digenic parkin and PINK1 mutations. 18546294 2008
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group BEFREE Loss-of-function mutations in the PTEN-induced kinase 1 (PINK1) or parkin genes, which encode a mitochondrially localized serine/threonine kinase and a ubiquitin-protein ligase, respectively, result in recessive familial forms of Parkinsonism. 18230723 2008
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group BEFREE Mutations in PINK1 (PTEN-induced putative kinase 1) are causal for early onset recessive parkinsonism in humans, characterized by damage to the nigrostriatal system. 17950257 2008
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 Biomarker group BEFREE Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism. 18378882 2008
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group BEFREE To decipher the role of PINK1 in pathogenesis of Parkinson's disease (PD), researchers need to identify protein substrates of PINK1 kinase activity that govern neuronal survival, and establish whether aberrant regulation and inactivation of PINK1 contribute to both familial Parkinsonism and idiopathic PD. 18221368 2008
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group BEFREE PINK1 mutation in Taiwanese early-onset parkinsonism : clinical, genetic, and dopamine transporter studies. 17960343 2008
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 Biomarker group BEFREE 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
0.500 GeneticVariation group LHGDN Homozygous or compound heterozygous mutations in the PINK1 gene represent the second most frequent cause of autosomal recessive parkinsonism after Parkin protein. 18307263 2008
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group LHGDN Homozygous mutations in the PINK1 gene have been shown to cause early-onset parkinsonism/, 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
0.500 GeneticVariation group LHGDN A new heterozygous mutation (p.R58-V59insGR) was found in exon 1 of PINK1/mutation may modify parkin-mutation-positive Parkinsonism/mutations may be associated with schizophrenia. 18546294 2008
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group BEFREE Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism. 18524835 2008
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group LHGDN Its missense mutation causes autosomal recessive juvenile parkinsonism. 19048950 2008