DisGeNET - a database of gene-disease associations

Complex partial seizure with impairment of consciousness, C0270834

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2782
Gene Symbol:	GNB1

GNB1

0.100

CausalMutation

disease

CLINVAR

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

2016

Entrez Id:	7957
Gene Symbol:	EPM2A

EPM2A

0.100

Biomarker

disease

HPO

Entrez Id:	112755
Gene Symbol:	STX1B

STX1B

0.100

Biomarker

disease

HPO

Entrez Id:	10588
Gene Symbol:	MTHFS

MTHFS

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

0.100

Biomarker

disease

HPO

Entrez Id:	64780
Gene Symbol:	MICAL1

MICAL1

0.100

Biomarker

disease

HPO

Entrez Id:	6324
Gene Symbol:	SCN1B

SCN1B

0.100

Biomarker

disease

HPO

Entrez Id:	9419
Gene Symbol:	CRIPT

CRIPT

0.100

Biomarker

disease

HPO

Entrez Id:	378884
Gene Symbol:	NHLRC1

NHLRC1

0.100

Biomarker

disease

HPO

Entrez Id:	2566
Gene Symbol:	GABRG2

GABRG2

0.100

Biomarker

disease

HPO

Entrez Id:	1183
Gene Symbol:	CLCN4

CLCN4

0.100

Biomarker

disease

HPO

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	81603
Gene Symbol:	TRIM8

TRIM8

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

0.100

Biomarker

disease

HPO

Entrez Id:	7874
Gene Symbol:	USP7

USP7

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	9211
Gene Symbol:	LGI1

LGI1

0.100

Biomarker

disease

HPO

Entrez Id:	7249
Gene Symbol:	TSC2

TSC2

0.100

Biomarker

disease

HPO

Entrez Id:	23229
Gene Symbol:	ARHGEF9

ARHGEF9

0.100

Biomarker

disease

HPO

Entrez Id:	2554
Gene Symbol:	GABRA1

GABRA1

0.100

Biomarker

disease

HPO

Entrez Id:	100528021
Gene Symbol:	ST20-MTHFS

ST20-MTHFS

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

0.100

Biomarker

disease

HPO

Entrez Id:	2782
Gene Symbol:	GNB1

GNB1

0.100

Biomarker

disease

HPO

Entrez Id:	6335
Gene Symbol:	SCN9A

SCN9A

0.100

Biomarker

disease

HPO

Entrez Id:	6323
Gene Symbol:	SCN1A

SCN1A

0.100

Biomarker

disease

HPO

Entrez Id:	55823
Gene Symbol:	VPS11

VPS11

0.100

Biomarker

disease

HPO