Disease: Movement Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554397774
rs1554397774
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport. 27742667 2016
dbSNP: rs1554397774
rs1554397774
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. 25060828 2014
dbSNP: rs1554397774
rs1554397774
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 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
dbSNP: rs1554397774
rs1554397774
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. 22748208 2012
dbSNP: rs1554397774
rs1554397774
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy. 22606975 2012
dbSNP: rs1554397774
rs1554397774
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. 22693283 2012
dbSNP: rs1554397774
rs1554397774
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons. 21710140 2011
dbSNP: rs1554397774
rs1554397774
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Neuronal ceroid lipofuscinoses. 19084560 2009
dbSNP: rs1554397774
rs1554397774
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. 17455289 2007
dbSNP: rs1554397774
rs1554397774
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. 15778103 2005