Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE In patients with DLB, only parkinsonism is associated with a reduction in striatal DAT uptake. 28361209 2017
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE Dopamine transporter (DAT) imaging is an important adjunct in the diagnostic workup of patients with Parkinsonism. 31776633 2019
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE Dopamine transporter (DAT) imaging such as <sup>123</sup>I-ioflupane (<sup>123</sup>I-FP-CIT) SPECT is a useful tool for the diagnosis of parkinsonism and dementia. 31140153 2019
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE In 2 cases, [(18)F]FP-CIT showed marked loss of dopamine transporter binding with only mild parkinsonism. 24484619 2014
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE Twenty one out of the 25 DAT scans proved the clinical diagnosis of degenerative parkinsonism to be correct. 29133699 2019
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE A normal striatal DAT in a parkinsonian patient is evidence for a nondegenerative cause of parkinsonism and differentiates DRD from JPD. 9629849 1998
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE Studies using the clinical diagnosis of a movement disorders specialist over the course of the disease as a reference have shown that DAT- SPECT is 78-100% sensitive (median, 93%) and 70-100% specific (median, 89%) for the differentiation of neurodegenerative parkinsonian syndromes from symptomatic parkinsonism and other differential diagnoses in clinically unclear cases. 31774054 2019
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 GeneticVariation group BEFREE <sup>18</sup>F-FP-CIT dopamine transporter PET findings in cirrhotic patients with parkinsonism. 28259768 2018
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 GeneticVariation group BEFREE PET with FE-PE2I revealed significant differences between patients with a clinical de novo diagnosis of PS and healthy controls in striatal DAT availability (p < 0.001), with excellent accuracy of predicting dopaminergic deficit in early-stage PS. 30443684 2018
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE Serotonin and dopamine transporter PET changes in the premotor phase of LRRK2 parkinsonism: cross-sectional studies. 28336296 2017
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE An abnormal iodine-123 ioflupane SPECT scan suggests a decreased amount of dopamine transporter in the striatum, that is, a diagnosis of nigrostriatal neurodegenerative PS, whereas a normal scan suggests ET or other nondegenerative parkinsonism (drug-induced, vascular, or psychogenic). 28922189 2017
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE Recent developments in diagnosis, such as the use of dopamine transporter imaging for drug-induced parkinsonism, and treatment, with the approval of valbenazine and deutetrabenazine, the first drugs indicated for tardive syndromes, have improved outcomes for many patients with drug-induced movement disorders. 31279747 2019
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE The heterozygous mother had definite parkinsonism with reduced DAT density in both putamina. 21060012 2010
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE Scans without evidence of dopaminergic deficit (SWEDD) is a radiological nomenclature which refers to patients with a normal dopamine transporter scan presumed to have parkinsonism. 30072245 2018
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE Dopamine transporter (DAT) imaging with [<sup>123</sup>I]FP-CIT (DaTSCAN) is a widely used diagnostic tool for Parkinsonism and dementia. 28382589 2017
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 GeneticVariation group BEFREE We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) including pantothenate kinase (PANK2)- and PLA2G6 (PARK14)-associated neurodegeneration, neuroferritinopathy, Kufor-Rakeb disease (PARK9) and the recently described SENDA syndrome; FBXO7-associated neurodegeneration (PARK15), autosomal-recessive spastic paraplegia with a thin corpus callosum (SPG11), and dystonia parkinsonism due to mutations in the SLC6A3 gene encoding the dopamine transporter. 20694531 2010
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE Dopamine transporter (DAT) single-photon emission tomography (SPECT) with (123)Ioflupane is a widely used diagnostic tool for patients with suspected parkinsonian syndromes, as it assists with differentiating between Parkinson's disease (PD) or atypical parkinsonisms and conditions without a presynaptic dopaminergic deficit such as essential tremor, vascular and drug-induced parkinsonisms. 31405186 2019
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE Identification of the molecular basis of IPD suggests SLC6A3 as a candidate susceptibility gene for other movement disorders associated with parkinsonism and/or dystonic features. 19478460 2009
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE Dopaminergic neurons from patients with Type 2 and Type 1 Gaucher disease with parkinsonism had reduced dopamine storage and dopamine transporter reuptake. 27413154 2016
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE Impact of DAT-SPECT on Management of Patients Suspected of Parkinsonism. 30153144 2018
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 AlteredExpression group BEFREE Present data suggest that A. blazei extract plays a crucial role in regulation of proteins expression such as DAT and VMAT2 and pro-apoptotic and anti-apoptotic in Parkinsonism. 30468634 2019
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 GeneticVariation group BEFREE Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited dopamine 'transportopathy' to be described, with a classical presentation of early infantile-onset progressive parkinsonism dystonia. 24613933 2014
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 Biomarker group BEFREE Fifty-six patients (52.8%) were diagnosed as having concomitant parkinsonism with rigidity and resting tremor and dopamine transporter reduction in the basal ganglia. 30222946 2018
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 AlteredExpression group BEFREE An image-based automated classification using striatal DAT activity and regional perfusion patterns provided a good performance in the differential diagnosis of neurodegenerative parkinsonian syndromes without clinical information. 29157745 2018
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.400 GeneticVariation group BEFREE Diagnosis remained stable in most individuals with early parkinsonism diagnosed with iPD and with abnormal DAT imaging. 30958313 2019