SLC6A3, solute carrier family 6 member 3, 6531

N. diseases: 373; N. variants: 38
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma
0.010 GeneticVariation disease BEFREE Kaposi sarcoma in people living with HIV: incidence and associated factors in the French DAT'AIDS cohort between 2010 and 2015. 31764070 2020
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
0.010 Biomarker disease BEFREE The algorithm includes baseline clinical and cognitive assessment, blood examination, and magnetic resonance imaging with exclusionary and inclusionary roles; dopamine transporter single-photon emission computed tomography (if no/unclear parkinsonism) or metaiodobenzylguanidine cardiac scintigraphy for suspected dementia with Lewy bodies with clear parkinsonism (round VII, votes (yes-no-abstained): 3-1-1); <sup>18</sup> F-fluorodeoxyglucose positron emission tomography for suspected frontotemporal lobar degeneration and low diagnostic confidence of Alzheimer's disease (round VII, 4-0-1); cerebrospinal fluid for suspected Alzheimer's disease (round IV, 4-1-0); and amyloid positron emission tomography if cerebrospinal fluid was not possible/accepted (round V, 4-1-0) or inconclusive (round VI, 5-0-0). 31692118 2020
CUI: C0860218
Disease: ABO incompatibility
ABO incompatibility
0.010 Biomarker disease BEFREE Post-transplant positive DAT was associated with piperacillin-tazobactam use (P = 0·021) and minor ABO incompatibility (P = 0·0038). 31724190 2020
Parkinson's disease and parkinsonism
0.010 Biomarker disease BEFREE Accordingly, our study suggests that amphetamines and other substances that block VT, but not cocaine or substances that only block DAT, may be etiologically important in the cytosolic dopamine mediation of neurodegeneration in Parkinson disease/Parkinsonism. 31828739 2020
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1
0.010 Biomarker disease BEFREE Western blot results showed that the expression level of tyrosine hydroxylase (TH) protein decreased and the content of dopamine transporter (DAT) protein increased in DM treated mice striatum. 31683416 2020
CUI: C3811918
Disease: GRN-related frontotemporal dementia
GRN-related frontotemporal dementia
0.010 Biomarker disease BEFREE The algorithm includes baseline clinical and cognitive assessment, blood examination, and magnetic resonance imaging with exclusionary and inclusionary roles; dopamine transporter single-photon emission computed tomography (if no/unclear parkinsonism) or metaiodobenzylguanidine cardiac scintigraphy for suspected dementia with Lewy bodies with clear parkinsonism (round VII, votes (yes-no-abstained): 3-1-1); <sup>18</sup> F-fluorodeoxyglucose positron emission tomography for suspected frontotemporal lobar degeneration and low diagnostic confidence of Alzheimer's disease (round VII, 4-0-1); cerebrospinal fluid for suspected Alzheimer's disease (round IV, 4-1-0); and amyloid positron emission tomography if cerebrospinal fluid was not possible/accepted (round V, 4-1-0) or inconclusive (round VI, 5-0-0). 31692118 2020
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.010 Biomarker disease BEFREE Neuropathologic correlates of amyloid and dopamine transporter imaging in Lewy body disease. 31243072 2019
CUI: C0010314
Disease: Cri-du-Chat Syndrome
Cri-du-Chat Syndrome
0.010 Biomarker disease BEFREE We identified biological processes involving genes previously found to be associated with CdCs, such as TERT, SLC6A3, and CTDNND2, as well as novel candidate proteins with potential contributions to CdCs phenotypes, including CCT5, TPPP, MED10, ADCY2, MTRR, CEP72, NDUFS6, and MRPL36. 30985858 2019
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
0.010 AlteredExpression disease BEFREE After 10-week ketamine administration, the assessment of the manifestations of toxicity in rhesus monkeys revealed significant changes in body weight and behavior, decreased DRD2 and DAT mRNA and protein expression in the PFC, and histological abnormalities including neuronal eosinophilia, pyknosis and disorderly arrangement of neurons in the PFC. 31330230 2019
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
0.010 Biomarker phenotype BEFREE We assessed to what extent the receptor-binding properties of antidepressant drugs could associate with the reporting odds ratios of hyponatraemia/SIADH of antidepressant drugs, building a linear regression model that included as independent variables the binding affinities (pKi) to the serotonin transporter, dopamine transporter, norepinephrine transporter, and serotonin 5-HT<sub>2C</sub>, 5-HT<sub>2A</sub> and 5-HT<sub>1A</sub>, and α<sub>1</sub>- and α<sub>2</sub>-adrenergic receptors. 30977109 2019
CUI: C0020651
Disease: Hypotension, Orthostatic
Hypotension, Orthostatic
0.010 GeneticVariation phenotype BEFREE Patients with abnormal DAT-SPECT had higher MDS-UPDRS motor score (p = 0.006) and higher prevalence of orthostatic hypotension (p = 0.008). 31664065 2019
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
0.010 Biomarker group BEFREE Cell membrane integrity, ATP content, oxygen consumption rate, and superoxide levels were measured in human hepatoma HepG2 cells after exposure to the substances for 24 h. All compounds inhibited the norepinephrine transporter at submicromolar concentrations and the dopamine transporter at low micromolar concentrations. 31068823 2019
CUI: C0024809
Disease: Marijuana Abuse
Marijuana Abuse
0.010 Biomarker disease BEFREE Importantly, APA insertions regulated RNA abundance of Slc6a3, the dopamine transporter, suggesting a novel genetic link for cannabis regulation of brain monoamine function. 31728018 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 GeneticVariation disease BEFREE This benefit was counterbalanced by a significant increase of stent thrombosis (RR 1.59, 95% CI 1.01-2.50; P = 0.04; I2 = 0%) and a trend towards higher risk of myocardial infarction with DAT. 31651946 2019
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.010 Biomarker disease BEFREE <i>threo</i>-Methylphenidate (<i>t</i>MP), used clinically for the treatment of ADHD and narcolepsy, is also a DAT reuptake inhibitor. 31369229 2019
Delirium, Dementia, Amnestic, Cognitive Disorders
0.010 Biomarker group BEFREE Dysregulation of dopaminergic system induced by HIV-1 Tat protein-mediated direct inhibition of the dopamine transporter (DAT) has been implicated as a mediating factor of HIV-1 associated neurocognitive disorders. 30846720 2019
CUI: C0030569
Disease: Secondary Parkinson Disease
Secondary Parkinson Disease
0.010 Biomarker disease 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
CUI: C0425722
Disease: Sexual symptom
Sexual symptom
0.010 AlteredExpression phenotype BEFREE We compared dopamine transporter activity in striatal subregions with various autonomic symptoms covered by the SCOPA-AUT domains including gastrointestinal, urinary, cardiovascular, thermoregulatory, pupillomotor, and sexual symptoms in 418 untreated patients with PD. 30236547 2019
CUI: C0751528
Disease: Stuttering, Childhood
Stuttering, Childhood
0.010 GeneticVariation phenotype BEFREE In the present study, we aimed to investigate the relationship between developmental stuttering in children and the levels of serum homovanillic acid (HVA), dopamine D2 receptor (DRD2) rs6277" genes_norm="1813">C957T (rs6277), and solute carrier family 6 member 3 (SLC6A3) human dopamine transporter (hDAT) A559V (rs28364997) single-nucleotide polymorphisms. 30199750 2019
CUI: C0751529
Disease: Stuttering, Developmental
Stuttering, Developmental
0.010 GeneticVariation phenotype BEFREE In the present study, we aimed to investigate the relationship between developmental stuttering in children and the levels of serum homovanillic acid (HVA), dopamine D2 receptor (DRD2) rs6277" genes_norm="1813">C957T (rs6277), and solute carrier family 6 member 3 (SLC6A3) human dopamine transporter (hDAT) A559V (rs28364997) single-nucleotide polymorphisms. 30199750 2019
CUI: C0751699
Disease: Minimally Conscious State
Minimally Conscious State
0.010 Biomarker disease BEFREE In a phase 0 clinical trial, we evaluated 13 normal volunteers and seven post-traumatic minimally conscious state patients using 11C-raclopride PET to estimate dopamine 2-like receptors occupancy in the striatum and central thalamus before and after dopamine transporter blockade with dextroamphetamine. 31505542 2019
Multiple Sclerosis, Primary Progressive
0.010 Biomarker disease BEFREE Here we report a patient with primary progressive multiple sclerosis (PPMS) who was scanned twice with brain dopamine transporter single photon emission computed tomography (SPECT) with an interval of four years. 31518774 2019
CUI: C0814161
Disease: impaired motor coordination
impaired motor coordination
0.010 AlteredExpression phenotype BEFREE In dopamine transporter (DAT)-Cre mice, overexpression of COMT, specifically in dopaminergic neurons of the substantia nigra, produced cataleptic behaviours associated with impaired motor coordination. 31135049 2019
CUI: C0857306
Disease: Leishmania donovani disease
Leishmania donovani disease
0.010 Biomarker disease BEFREE At the start of follow-up venous blood was collected for the following tests: DAT, rK39- ELISA, Quantiferon assay, SNP/HLA genotyping and L.donovani specific quantitative PCR. 30917114 2019
CUI: C1306759
Disease: Eosinophilic disorder
Eosinophilic disorder
0.010 AlteredExpression group BEFREE After 10-week ketamine administration, the assessment of the manifestations of toxicity in rhesus monkeys revealed significant changes in body weight and behavior, decreased DRD2 and DAT mRNA and protein expression in the PFC, and histological abnormalities including neuronal eosinophilia, pyknosis and disorderly arrangement of neurons in the PFC. 31330230 2019