DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 ×

Variant: rs1555889162 ×

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:

rs1555889162

KCNB1 ; LOC105372649

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

dbSNP:

rs1555889162

KCNB1 ; LOC105372649

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

dbSNP:

rs1555889162

KCNB1 ; LOC105372649

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

dbSNP:

rs1555889162

KCNB1 ; LOC105372649

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