Disease: Movement Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation group BEFREE Varying levels of evidence support their roles in neurocognitive disorders (KCTD3), neurodevelopmental disease (KCTD7), bipolar disorder (KCTD12), autism and schizophrenia (KCTD13), movement disorders (KCTD17), cancer (KCTD11), and obesity (KCTD15). 31197948 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation group BEFREE Patients with KCTD7 mutations can exhibit movement disorders or developmental regression before seizure onset, and are distinguished from similar disorders by an earlier age of onset. 30295347 2018
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation group CLINVAR Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport. 27742667 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation group CLINVAR Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. 25060828 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation group CLINVAR A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. 22748208 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation group CLINVAR A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome. 22638565 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation group CLINVAR Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy. 22606975 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation group CLINVAR Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. 22693283 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation group CLINVAR Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons. 21710140 2011
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation group CLINVAR Neuronal ceroid lipofuscinoses. 19084560 2009
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation group CLINVAR Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. 17455289 2007
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation group CLINVAR Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. 15778103 2005