DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Epilepsy, Rolandic ×

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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:	6324
Gene Symbol:	SCN1B

SCN1B

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:	57094
Gene Symbol:	CPA6

CPA6

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:	23236
Gene Symbol:	PLCB1

PLCB1

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:	57526
Gene Symbol:	PCDH19

PCDH19

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:	6709
Gene Symbol:	SPTAN1

SPTAN1

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:	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