Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 814
Gene Symbol: CAMK4
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8621
Gene Symbol: CDK13
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1356
Gene Symbol: CP
0.310 Biomarker phenotype CTD_human Aceruloplasminemia, an inherited disorder of iron metabolism. 12572680 2003
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: 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: 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: 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: 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: 10522
Gene Symbol: DEAF1
0.100 Biomarker phenotype HPO
Entrez Id: 1813
Gene Symbol: DRD2
0.300 Biomarker phenotype CTD_human Genotype and smoking history affect risk of levodopa-induced dyskinesias in Parkinson's disease. 16435402 2006
Entrez Id: 84340
Gene Symbol: GFM2
0.100 Biomarker phenotype HPO
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: 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: 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: 2902
Gene Symbol: GRIN1
0.410 Biomarker phenotype GENOMICS_ENGLAND Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017
Entrez Id: 2902
Gene Symbol: GRIN1
0.410 Biomarker phenotype HPO
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: 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: 3356
Gene Symbol: HTR2A
0.300 Biomarker phenotype CTD_human Susceptibility to neuroleptic-induced tardive dyskinesia and the T102C polymorphism in the serotonin type 2A receptor. 11526996 2001
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: 3631
Gene Symbol: INPP4A
0.010 Biomarker phenotype BEFREE Notably, Inpp4a(-/-) mice show severe involuntary movement disorders. 20463662 2010
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: 4297
Gene Symbol: KMT2A
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9757
Gene Symbol: KMT2B
0.100 GeneticVariation phenotype CLINVAR