DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3 ×

Variant: rs794727152 ×

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:

rs794727152

SCN2A

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

SEIZURES, BENIGN FAMILIAL INFANTILE, 3

0.700

CausalMutation

CLINVAR

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.

29186148

2017

dbSNP:

rs794727152

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:

rs794727152

SCN2A

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

SEIZURES, BENIGN FAMILIAL INFANTILE, 3

0.700

CausalMutation

CLINVAR

De novo R853Q mutation of SCN2A gene and West syndrome.

25772804

2015

dbSNP:

rs794727152

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