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