DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Seizures ×

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:	8086
Gene Symbol:	AAAS

AAAS

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	16
Gene Symbol:	AARS1

AARS1

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	10157
Gene Symbol:	AASS

AASS

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	18
Gene Symbol:	ABAT

ABAT

CUI:	C0036572
Disease:	Seizures

Seizures

0.410

Biomarker

HPO

Entrez Id:	23461
Gene Symbol:	ABCA5

ABCA5

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	10347
Gene Symbol:	ABCA7

ABCA7

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	368
Gene Symbol:	ABCC6

ABCC6

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

CausalMutation

CLINVAR

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C0036572
Disease:	Seizures

Seizures

0.130

Biomarker

HPO

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

GeneticVariation

CLINVAR

Entrez Id:	34
Gene Symbol:	ACADM

ACADM

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	35
Gene Symbol:	ACADS

ACADS

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	36
Gene Symbol:	ACADSB

ACADSB

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	38
Gene Symbol:	ACAT1

ACAT1

CUI:	C0036572
Disease:	Seizures

Seizures

0.400

Biomarker

HPO

Entrez Id:	50
Gene Symbol:	ACO2

ACO2

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	51
Gene Symbol:	ACOX1

ACOX1

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	59
Gene Symbol:	ACTA2

ACTA2

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	60
Gene Symbol:	ACTB

ACTB

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	71
Gene Symbol:	ACTG1

ACTG1

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	51412
Gene Symbol:	ACTL6B

ACTL6B

CUI:	C0036572
Disease:	Seizures

Seizures

0.400

GeneticVariation

CLINVAR

Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

2019

Entrez Id:	90
Gene Symbol:	ACVR1

ACVR1

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	95
Gene Symbol:	ACY1

ACY1

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO

Entrez Id:	51816
Gene Symbol:	ADA2

ADA2

CUI:	C0036572
Disease:	Seizures

Seizures

0.100

Biomarker

HPO