DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Epilepsy, Rolandic ×

Results per page

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:	23334
Gene Symbol:	SZT2

SZT2

CUI:	C0376532
Disease:	Epilepsy, Rolandic

Epilepsy, Rolandic

0.100

CausalMutation

CLINVAR

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

29358611

2018

Entrez Id:	6323
Gene Symbol:	SCN1A

SCN1A

CUI:	C0376532
Disease:	Epilepsy, Rolandic

Epilepsy, Rolandic

0.110

CausalMutation

CLINVAR

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

29358611

2018

Entrez Id:	146713
Gene Symbol:	RBFOX3

RBFOX3

CUI:	C0376532
Disease:	Epilepsy, Rolandic

Epilepsy, Rolandic

0.110

CausalMutation

CLINVAR

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

29358611

2018

Entrez Id:	6335
Gene Symbol:	SCN9A

SCN9A

CUI:	C0376532
Disease:	Epilepsy, Rolandic

Epilepsy, Rolandic

0.110

CausalMutation

CLINVAR

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

29358611

2018

Entrez Id:	54715
Gene Symbol:	RBFOX1

RBFOX1

CUI:	C0376532
Disease:	Epilepsy, Rolandic

Epilepsy, Rolandic

0.110

CausalMutation

CLINVAR

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

29358611

2018

Entrez Id:	3786
Gene Symbol:	KCNQ3

KCNQ3

CUI:	C0376532
Disease:	Epilepsy, Rolandic

Epilepsy, Rolandic

0.120

CausalMutation

CLINVAR

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

29358611

2018