Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation CLINVAR Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport. 27742667

2016
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation CLINVAR Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. 25060828

2014
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation CLINVAR A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. 22748208

2012
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation CLINVAR A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome. 22638565

2012
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation CLINVAR Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy. 22606975

2012
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation CLINVAR Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. 22693283

2012
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation CLINVAR Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons. 21710140

2011
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation CLINVAR Neuronal ceroid lipofuscinoses. 19084560

2009
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation CLINVAR Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. 17455289

2007
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.120 GeneticVariation CLINVAR Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. 15778103

2005