DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	3745
Gene Symbol:	KCNB1

KCNB1

CUI:	C4015119
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26

0.700

CausalMutation

CLINVAR

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

28806457

2017

Entrez Id:	3745
Gene Symbol:	KCNB1

KCNB1

CUI:	C4015119
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26

0.700

CausalMutation

CLINVAR

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

29264397

2017

Entrez Id:	3745
Gene Symbol:	KCNB1

KCNB1

CUI:	C4015119
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26

0.700

GeneticVariation

CLINVAR

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

29264397

2017

Entrez Id:	3745
Gene Symbol:	KCNB1

KCNB1

CUI:	C4015119
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26

0.700

GeneticVariation

CLINVAR

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

28252636

2017

Entrez Id:	3745
Gene Symbol:	KCNB1

KCNB1

CUI:	C4015119
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26

0.700

CausalMutation

CLINVAR

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

26648591

2016

Entrez Id:	3745
Gene Symbol:	KCNB1

KCNB1

CUI:	C4015119
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26

0.700

CausalMutation

CLINVAR

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.

26477325

2015

Entrez Id:	3745
Gene Symbol:	KCNB1

KCNB1

CUI:	C4015119
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26

0.700

CausalMutation

CLINVAR

De novo KCNB1 mutations in epileptic encephalopathy.

25164438

2014

Entrez Id:	3745
Gene Symbol:	KCNB1

KCNB1

CUI:	C4015119
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26

0.700

GeneticVariation

CLINVAR

De novo KCNB1 mutations in epileptic encephalopathy.

25164438

2014