DisGeNET - a database of gene-disease associations

KCTD7, potassium channel tetramerization domain containing 7, 154881

N. diseases: 68; N. variants: 17

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387907246

Entrez Id:	154881
Gene Symbol:	KCTD7

KCTD7

CUI:	C2673257
Disease:

EPILEPSY, PROGRESSIVE MYOCLONIC 3

0.800

GeneticVariation

CLINVAR

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

27742667

2016

dbSNP:

rs387907246

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:

rs387907246

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:

rs387907246

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:

rs387907246

Entrez Id:	154881
Gene Symbol:	KCTD7

KCTD7

CUI:	C2673257
Disease:

EPILEPSY, PROGRESSIVE MYOCLONIC 3

0.800

GeneticVariation

CLINVAR

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

22748208

2012

dbSNP:

rs387907246

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:

rs387907260

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:

rs387907260

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:

rs387907260

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:

rs387907260

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:

rs387907261

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:

rs387907261

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:

rs387907261

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:

rs387907261

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

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:

rs387907262

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:

rs387907262

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:

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:

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

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

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

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:

rs387907246

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:

rs387907260

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:

rs387907261

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