DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Febrile Convulsions ×

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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:	6323
Gene Symbol:	SCN1A

SCN1A

CUI:	C0009952
Disease:	Febrile Convulsions

Febrile Convulsions

0.700

CausalMutation

CLINVAR

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0009952
Disease:	Febrile Convulsions

Febrile Convulsions

0.100

CausalMutation

CLINVAR

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

25735478

2015

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0009952
Disease:	Febrile Convulsions

Febrile Convulsions

0.100

GeneticVariation

CLINVAR

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

25735478

2015

Entrez Id:	6531
Gene Symbol:	SLC6A3

SLC6A3

CUI:	C0009952
Disease:	Febrile Convulsions

Febrile Convulsions

0.100

CausalMutation

CLINVAR

Genetic mapping and exome sequencing identify variants associated with five novel diseases.

22279524

2012

Entrez Id:	55252
Gene Symbol:	ASXL2

ASXL2

CUI:	C0009952
Disease:	Febrile Convulsions

Febrile Convulsions

0.100

CausalMutation

CLINVAR

Entrez Id:	6197
Gene Symbol:	RPS6KA3

RPS6KA3

CUI:	C0009952
Disease:	Febrile Convulsions

Febrile Convulsions

0.100

CausalMutation

CLINVAR

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C0009952
Disease:	Febrile Convulsions

Febrile Convulsions

0.100

CausalMutation

CLINVAR

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C0009952
Disease:	Febrile Convulsions

Febrile Convulsions

0.100

GeneticVariation

CLINVAR

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0009952
Disease:	Febrile Convulsions

Febrile Convulsions

0.100

CausalMutation

CLINVAR

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C0009952
Disease:	Febrile Convulsions

Febrile Convulsions

0.100

GeneticVariation

CLINVAR

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

CUI:	C0009952
Disease:	Febrile Convulsions

Febrile Convulsions

0.100

CausalMutation

CLINVAR

Entrez Id:	55823
Gene Symbol:	VPS11

VPS11

CUI:	C0009952
Disease:	Febrile Convulsions

Febrile Convulsions

0.100

CausalMutation

CLINVAR

Entrez Id:	55023
Gene Symbol:	PHIP

PHIP

CUI:	C0009952
Disease:	Febrile Convulsions

Febrile Convulsions

0.100

GeneticVariation

CLINVAR