Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3351
Gene Symbol: HTR1B
HTR1B
0.210 AlteredExpression disease BEFREE After repeated L-DOPA treatment, the severity of L-DOPA-induced dyskinesias and turning behavior was positively correlated with the increase in 5-HT1B expression in the associative, but not sensorimotor, striatum ipsilateral to the lesion, suggesting that associative striatal 5-HT1B receptors may play a role in L-DOPA-induced behavioral abnormalities. 31468338 2020
Entrez Id: 3351
Gene Symbol: HTR1B
HTR1B
0.210 Biomarker disease RGD The potent synergistic effect of low doses of 5-HT1A and 5-HT1B agonists to suppress dyskinesia, without affecting the anti-parkinsonian effect of L-DOPA in presence of spared dopamine terminals, suggests an early use of these drugs to counteract the development of dyskinesia in Parkinson's disease patients. 17452372 2007
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.200 Biomarker disease BEFREE Haploinsufficiency of the glucose transporter GLUT1 causes a characteristic early onset encephalopathy, and has recently emerged as an important cause of a variety of childhood or later-onset generalized epilepsies and paroxysmal exercise-induced dyskinesia. 24483274 2014
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.200 GeneticVariation disease BEFREE In particular, paroxysmal exertional dyskinesia is now a well-documented clinical feature that occurs in individuals with Glut1 DS. 23443458 2013
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.200 GeneticVariation disease BEFREE Two patients with MAE with SLC2A1 mutations also developed paroxysmal exertional dyskinesia in childhood. 21555602 2011
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.200 GeneticVariation disease BEFREE Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype. 21530357 2011
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.200 GeneticVariation disease BEFREE Familial glucose transporter type 1 (GLUT1) deficiency due to autosomal dominant inheritance of SLC2A1 mutations is associated with paroxysmal exertional dyskinesia; epilepsy and intellectual disability occur in some family members. 20574033 2010
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.200 Biomarker disease BEFREE We summarize recently discovered genes and loci, including the 1) detection of two primary dystonia genes (DYT6, DYT16), 2) identification of the DYT17 locus, 3) association of a dystonia/dyskinesia phenotype with a gene previously linked to GLUT1 (glucose transporter of the blood-brain barrier) deficiency syndrome (DYT18), 4) designation of paroxysmal kinesigenic and nonkinesigenic dyskinesia as DYT19 and DYT20, and 5) redefinition of DYT14 as DYT5. 20425035 2010
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.200 GeneticVariation disease BEFREE Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. 21204808 2010
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.200 GeneticVariation disease BEFREE GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. 19630075 2009
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.200 GeneticVariation disease LHGDN Combining these data with brain imaging studies, we propose that the dyskinesias result from an exertion-induced energy deficit that may cause episodic dysfunction of the basal ganglia, and that the hemolysis with echinocytosis may result from alterations in intracellular electrolytes caused by a cation leak through mutant GLUT1. 18451999 2008
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.200 GeneticVariation disease BEFREE GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. 18451999 2008
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.200 GeneticVariation disease BEFREE Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. 18577546 2008
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.200 Biomarker disease HPO
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.190 GeneticVariation disease BEFREE The results of our study show that there is no difference in dyskinesias prevalence among carriers of the two DAT gene polymorphisms. 30316985 2019
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.190 Biomarker disease BEFREE Despite a weak correlation with PD severity and progression, quantitative measurements of DAT binding at baseline could be used to predict the emergence of late-disease motor fluctuations and dyskinesias. 31405186 2019
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.190 Biomarker disease BEFREE There is a loss of the DAT in Parkinson's disease affecting release of levodopa implicated in levodopa-induced dyskinesias. 29407218 2018
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.190 Biomarker disease BEFREE The effects of levodopa sparing on dyskinesia development were assessed with Kaplan-Meier estimates and a stratified Cox regression model adjusted for age of onset, sex, dopamine transporter availability, and daily levodopa dose per weight. 30027399 2018
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.190 Biomarker disease BEFREE The DAT upregulation by rotigotine in an opposite direction with respect to early Parkinson disease compensatory mechanisms might reduce the risk of dyskinesia, but it could imply less motor benefit because of less stimulation by the dopamine itself on dopaminergic receptors. 27941527 2017
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.190 Biomarker disease BEFREE This report emphasizes the usefulness of the neopterin level in cerebrospinal fluids and dopamine transporter imaging in the differential diagnosis of DRD syndromes and a possible mechanism of levodopa-induced-dyskinesia in early childhood onset case. 24018121 2013
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.190 AlteredExpression disease BEFREE PET demonstrates reduced dopamine transporter expression in PD with dyskinesias. 19020294 2009
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.190 GeneticVariation disease BEFREE No significant difference was found in levodopa main outcome variables and dyskinesia incidence between the two groups of patients stratified by DAT VNTR polymorphism. 15190232 2004
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.190 Biomarker disease BEFREE The wealth of information about this interesting molecule that has been developed over the last 12 years has led to increased interest in DAT among workers interested in both normal and abnormal movement. 14531049 2003
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.190 Biomarker disease HPO
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
0.180 GeneticVariation disease BEFREE Here, we used a newly developed cell line that used Crispr-Cas9 to eliminate the predominant adenylyl cyclase isoforms to more accurately characterize a series of AC5 gain-of-function mutations which have been identified in ADCY5-related dyskinesias. 30772269 2019