Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907262
rs387907262
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C2673257
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		0.800 GeneticVariation UNIPROT A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. 22748208 2012
dbSNP: rs387907262
rs387907262
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C2673257
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs387907263
rs387907263
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C2673257
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		0.800 GeneticVariation UNIPROT Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. 22693283 2012
dbSNP: rs387907263
rs387907263
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C2673257
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		0.800 GeneticVariation UNIPROT Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. 17455289 2007
dbSNP: rs387907263
rs387907263
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C2673257
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		0.800 GeneticVariation UNIPROT Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy. 22606975 2012
dbSNP: rs387907263
rs387907263
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C2673257
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		0.800 GeneticVariation UNIPROT A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. 22748208 2012
dbSNP: rs387907263
rs387907263
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C2673257
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
dbSNP: rs387907263
rs387907263
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C2673257
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		A 0.800 CausalMutation CLINVAR
dbSNP: rs10272546
rs10272546
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
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 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 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 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 Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. 15778103 2005
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 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 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 Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport. 27742667 2016
dbSNP: rs1554397834
rs1554397834
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C2673257
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		A 0.700 GeneticVariation CLINVAR Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. 22693283 2012
dbSNP: rs201296399
rs201296399
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: rs201296399
rs201296399
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Neuronal ceroid lipofuscinoses. 19084560 2009
dbSNP: rs201296399
rs201296399
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: rs201296399
rs201296399
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: rs201296399
rs201296399
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