Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2902
Gene Symbol: GRIN1
0.410 GeneticVariation phenotype BEFREE Clinical features of de novo GRIN1 mutations include infantile involuntary movements, seizures, and hand stereotypies, suggesting that GRIN1 mutations cause encephalopathy resulting in seizures and movement disorders. 25864721 2015
Entrez Id: 1356
Gene Symbol: CP
0.310 Biomarker phenotype BEFREE Three sporadic patients (two men and one woman) were examined with involuntary movements and dysarthria associated with abnormal concentrations of serum copper, serum ceruloplasmin, and urinary copper excretion. 11723201 2001
Entrez Id: 2774
Gene Symbol: GNAL
0.020 GeneticVariation phenotype BEFREE GNAL mutations have been shown to cause adult-onset isolated dystonia, a disabling movement disorder characterized by involuntary muscle contractions causing twisting and repetitive movements or abnormal postures. 24408567 2014
Entrez Id: 1861
Gene Symbol: TOR1A
0.020 Biomarker phenotype BEFREE The MF pattern was present in DYT1 carriers with and without clinical manifestations and persisted in DYT1 dystonia patients in whom involuntary movements were suppressed by sleep. 9749595 1998
Entrez Id: 55145
Gene Symbol: THAP1
0.020 GeneticVariation phenotype BEFREE The transcription factor THAP1 (THanatos Associated Protein 1) has emerged recently as the cause of DYT6 primary dystonia, a type of rare, familial and mostly early-onset syndrome that leads to involuntary muscle contractions. 22844099 2012
Entrez Id: 55145
Gene Symbol: THAP1
0.020 Biomarker phenotype BEFREE Thanatos-associated [THAP] domain-containing apoptosis-associated protein 1 (THAP1) is a DNA-binding protein that has been recently associated with DYT6 dystonia, a hereditary movement disorder involving sustained, involuntary muscle contractions. 21752024 2011
Entrez Id: 1861
Gene Symbol: TOR1A
0.020 Biomarker phenotype BEFREE We conclude that aberrant opioid transmission is unlikely to be present in DYT1-PTD and altered opioid transmission is not a common mechanism underlying all disorders of involuntary movement. 15390064 2004
Entrez Id: 2774
Gene Symbol: GNAL
0.020 GeneticVariation phenotype BEFREE GNAL loss-of-function mutations are causally-associated with isolated dystonia, a movement disorder characterized by involuntary muscle contractions leading to abnormal postures. 31034808 2019
Entrez Id: 81865
Gene Symbol: BFIC2
0.010 Biomarker phenotype BEFREE Thus, PKD and BFIC2 are genetically identical and may cause convulsions and involuntary movements via a similar mechanism. 22399141 2012
Entrez Id: 3708
Gene Symbol: ITPR1
0.010 GeneticVariation phenotype BEFREE All affected members present with cognitive impairment and two of them with mild intermittent involuntary movements in association with the clinical hallmarks of SCA15 (gait ataxia, balance impairment, and dysarthria). 21382133 2011
Entrez Id: 10891
Gene Symbol: PPARGC1A
0.010 Biomarker phenotype BEFREE Within the last year, studies of Parkinson's disease, another involuntary movement disorder long associated with mitochondrial dysfunction, have shown that PGC-1α dysregulation is contributing to its pathogenesis. 22100502 2012
Entrez Id: 4051
Gene Symbol: CYP4F3
0.010 GeneticVariation phenotype BEFREE Schizophrenia patients who carry the dopamine D3gly allele and the cytochrome P 450 17alpha-hydroxylase A2-A2 genotype may be more likely to develop abnormal orofoacial and distal involuntary movements and to be incapacitated by these movements when chronically exposed to classical antipsychotic drugs. 11839369 2002
Entrez Id: 5595
Gene Symbol: MAPK3
0.010 Biomarker phenotype BEFREE Our results document for the first time a disturbance of ERK1/2 signaling regulation associated with apomorphine-induced involuntary movements in a genetic mouse model of synucleinopathy. 25307288 2015
Entrez Id: 3631
Gene Symbol: INPP4A
0.010 Biomarker phenotype BEFREE Notably, Inpp4a(-/-) mice show severe involuntary movement disorders. 20463662 2010
Entrez Id: 1630
Gene Symbol: DCC
0.010 GeneticVariation phenotype BEFREE Humans with heterozygous mutations in the axon guidance receptor DCC display congenital mirror movements (MMs), which are involuntary movements of body parts, such as fingers, on one side of the body that mirror voluntary movement of the opposite side. 28691197 2018
Entrez Id: 3064
Gene Symbol: HTT
0.010 Biomarker phenotype BEFREE An expansion of glutamine repeats in the N-terminal domain of the huntingtin protein leads to Huntington's disease (HD), a neurodegenerative condition characterized by the presence of involuntary movements, dementia, and psychiatric disturbances. 23423362 2013
Entrez Id: 1727
Gene Symbol: CYB5R3
0.010 Biomarker phenotype BEFREE NADH-diaphorase and cytochrome b5 reductase activities of platelets and leucocytes, as well as erythrocytes, were found to be deficient in a patient with hereditary methaemoglobinaemia associated with moderate mental retardation and non-progressive neurological disturbance, in which hyperactive reflexes and involuntary movements were notable. 6896729 1982
Entrez Id: 1436
Gene Symbol: CSF1R
0.010 GeneticVariation phenotype BEFREE It also showed that involuntary movements and brainstem or cerebellar atrophy were negative predictors of a CSF1R-mutation-positive result. 31520500 2020
Entrez Id: 9900
Gene Symbol: SV2A
0.010 GeneticVariation phenotype BEFREE In addition, a recent clinical study demonstrated that a missense mutation in the SV2A gene caused intractable epilepsy with involuntary movements and developmental retardation, illustrating a causative role of SV2A dysfunction in epilepsy. 28393712 2017
Entrez Id: 3350
Gene Symbol: HTR1A
0.010 Biomarker phenotype BEFREE We report on a patient with HD, whose involuntary movements and psychiatric symptoms were clinically improved with perospirone, a second-generation antipsychotic agent with antagonistic effects on serotonin 5-HT(2A) and dopamine D(2) (D(2)) receptors, as well as a unique agonistic effect on serotonin 5-HT(1A) (5-HT(1A)) receptors. 16887250 2007
Entrez Id: 9423
Gene Symbol: NTN1
0.010 GeneticVariation phenotype BEFREE Here, we have identified 3 mutations in exon 7 of NTN1 in 2 unrelated families and 1 sporadic case with isolated congenital mirror movements (CMM), a disorder characterized by involuntary movements of one hand that mirror intentional movements of the opposite hand. 28945198 2017
Entrez Id: 2775
Gene Symbol: GNAO1
0.010 GeneticVariation phenotype BEFREE Our study demonstrated that GNAO1 variants can cause involuntary movements and severe developmental delay with/without seizures, including various types of early-onset epileptic encephalopathy. 25966631 2016
Entrez Id: 116150
Gene Symbol: NUS1
0.010 GeneticVariation phenotype BEFREE Our study strongly supports the finding that this recurrent, de novo, variant in NUS1 causes developmental and epileptic encephalopathy with involuntary movement, ataxia and scoliosis. 31656175 2019
Entrez Id: 3164
Gene Symbol: NR4A1
0.010 Biomarker phenotype BEFREE Genetic disruption of Nr4a1 in rat reduced neurotoxin-induced dopamine cell loss and l-Dopa-induced dyskinesia, whereas virally-driven striatal overexpression of Nr4a1 enhanced or partially restored involuntary movements induced by chronic l-Dopa in wild type and Nr4a1-deficient rats, respectively. 29530712 2018
Entrez Id: 5587
Gene Symbol: PRKD1
0.010 Biomarker phenotype BEFREE Thus, PKD and BFIC2 are genetically identical and may cause convulsions and involuntary movements via a similar mechanism. 22399141 2012