DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3 ×

Variant: rs796053126 ×

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:

rs796053126

SCN2A

CUI:	C1843140
Disease:	SEIZURES, BENIGN FAMILIAL INFANTILE, 3

SEIZURES, BENIGN FAMILIAL INFANTILE, 3

0.700

CausalMutation

CLINVAR

Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine.

27867041

2017

dbSNP:

rs796053126

SCN2A

CUI:	C1843140
Disease:	SEIZURES, BENIGN FAMILIAL INFANTILE, 3

SEIZURES, BENIGN FAMILIAL INFANTILE, 3

0.700

CausalMutation

CLINVAR

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

28379373

2017

dbSNP:

rs796053126

SCN2A

CUI:	C1843140
Disease:	SEIZURES, BENIGN FAMILIAL INFANTILE, 3

SEIZURES, BENIGN FAMILIAL INFANTILE, 3

0.700

CausalMutation

CLINVAR

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

26648591

2016

dbSNP:

rs796053126

SCN2A

CUI:	C1843140
Disease:	SEIZURES, BENIGN FAMILIAL INFANTILE, 3

SEIZURES, BENIGN FAMILIAL INFANTILE, 3

0.700

CausalMutation

CLINVAR

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

26993267

2016

dbSNP:

rs796053126

SCN2A

CUI:	C1843140
Disease:	SEIZURES, BENIGN FAMILIAL INFANTILE, 3

SEIZURES, BENIGN FAMILIAL INFANTILE, 3

0.700

CausalMutation

CLINVAR

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

23935176

2013