Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907246
rs387907246
KCTD7
T 0.800 GeneticVariation CLINVAR Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport. 27742667

2016
dbSNP: rs387907246
rs387907246
KCTD7
0.800 GeneticVariation UNIPROT A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. 22748208

2012
dbSNP: rs387907246
rs387907246
KCTD7
0.800 GeneticVariation UNIPROT Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy. 22606975

2012
dbSNP: rs387907246
rs387907246
KCTD7
0.800 GeneticVariation UNIPROT Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. 22693283

2012
dbSNP: rs387907246
rs387907246
KCTD7
T 0.800 GeneticVariation CLINVAR A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. 22748208

2012
dbSNP: rs387907246
rs387907246
KCTD7
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs387907246
rs387907246
KCTD7
0.800 GeneticVariation UNIPROT Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. 17455289

2007
dbSNP: rs387907246
rs387907246
KCTD7
T 0.800 GeneticVariation CLINVAR [Propofol with/without N2O versus thiopentone-isoflurane in surgery of supratentorial tumors]. 2274208

1990