DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 ×

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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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	6324
Gene Symbol:	SCN1B

SCN1B

sodium voltage-gated channel beta subunit 1

0.575

0.538

0.10

CUI:	C1858672
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1

disease

0.710

None

1.000

1998

2019