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: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 Biomarker disease BEFREE The DAT is the molecular target for cocaine and amphetamine as well as a number of pathological conditions including autism spectrum disorders, attention-deficit hyperactivity disorder (ADHD), dopamine transporter deficiency syndrome (DTDS), and Parkinson's disease. 30828290 2019
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 Biomarker disease BEFREE Latch and trigger role for R445 in DAT transport explains molecular basis of DTDS. 29258773 2018
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 Biomarker disease BEFREE These data indicate the efficacy of a new combinatorial gene therapy aimed at rescuing DA function and related phenotype in a mouse model that best approximates DAT deficiency found in DTDS. 28417953 2017
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 GeneticVariation disease BEFREE Our in vivo phenotypic findings demonstrate a functional conservation between human and nematode DAT and validate previous in vitro indications of the loss of function of hDAT in carriers of DTDS-related mutations. 27519790 2017
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 Biomarker disease CTD_human Importantly, both drugs rescue DAT maturation and functional activity of the DTDS-associated mutations A314V and R445C. 27555326 2016
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 GeneticVariation disease BEFREE Folding-defective mutants of the human dopamine transporter (DAT) cause a syndrome of infantile dystonia/parkinsonism. 27481941 2016
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 GeneticVariation disease BEFREE Importantly, both drugs rescue DAT maturation and functional activity of the DTDS-associated mutations A314V and R445C. 27555326 2016
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 GeneticVariation disease 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
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 GeneticVariation disease BEFREE dopamine transporter deficiency syndrome is the first identified parkinsonian disorder caused by genetic alterations of the dopamine transporter. 21112253 2011
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 Biomarker disease BEFREE Variations in solute carrier family 6A, member 3 (SLC6A3/DAT1), the human gene encoding DAT, have been implicated in attention deficit hyperactivity and bipolar disorders, and DAT is a prominent site of action for drugs such as amphetamines and cocaine.In this issue of the JCI, Kurian et al. report that an autosomal recessive infantile parkinsonism-dystonia is caused by loss-of-function mutations in DAT that impair dopamine reuptake (see the related article beginning on page 1595). 19504720 2009
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 Biomarker disease 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
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 GeneticVariation disease CLINVAR
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 GermlineCausalMutation disease ORPHANET
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 Biomarker disease BEFREE To detect the association between the SLC6A3 gene and the risk of schizophrenia, 31 case-control articles were included in this meta-analysis. 31440993 2020
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 Biomarker disease BEFREE A set of 41 SNPs of genes for dopamine receptors DRD1, DRD2, DRD3, DRD4, the dopamine transporter SLC6A3 and dopamine catabolizing enzymes MAOA and MAOB was investigated in a population of 446 Caucasians (221 males/225 females) with a clinical diagnosis of schizophrenia (according to ICD-10: F20) with and without HPRL who were treated with classical and/or atypical antipsychotic drugs. 30967134 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 Biomarker disease BEFREE DAT serves as a site of action for a variety of addictive and therapeutic reuptake inhibitors, and transport dysfunction is associated with transmitter imbalances in disorders such as schizophrenia, attention deficit hyperactive disorder, bipolar disorder, and Parkinson disease. 30179648 2019
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence
0.600 AlteredExpression disease BEFREE We found that patients with genetically higher DAT levels had better treatment outcomes with disulfiram pharmacotherapy of cocaine dependence than those with lower DAT levels.(Am J Addict 2019;28:311-317). 31087723 2019
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence
0.600 AlteredExpression disease BEFREE Increased expression of Arc, CDK5 and TH, and decrease in DAT protein levels persisted longer after withdrawal, pointing to a neuroplastic lasting effect similar to that involved in cocaine addiction. 30321610 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 Biomarker disease BEFREE Interactions of DA, its analogue with DARs, or DAT have been studied extensively to understand the mechanism of the dopaminergic signaling process and several neurodegenerative diseases, including schizophrenia, Parkinson's diseases, addiction, attention deficit hyperactivity disorder, and bipolar disorder. 30024721 2018
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence
0.600 Biomarker disease BEFREE These data describe the behavioral consequence of cocaine tolerance, provide a putative mechanism for its development, and suggest that compounds that disperse DAT complexes may be efficacious treatments for cocaine addiction. 29175958 2018
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence
0.600 AlteredExpression disease BEFREE <b>Background:</b> Preclinical and clinical data suggest that a compound which binds potently to and inhibits the dopamine transporter, but with a slower onset and offset rate than cocaine and with less abuse potential and psychomotor stimulant activity, could be a useful adjunct in the treatment of cocaine dependence. 30042675 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 Biomarker disease BEFREE However, DAT protein was significantly increased in putatively treatment-resistant cases of schizophrenia compared to putatively treatment-responsive cases. 28094812 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE Dopamine transporter (DAT) genetic hypofunction in mice produces alterations consistent with ADHD but not schizophrenia or bipolar disorder. 28454982 2017