DisGeNET - a database of gene-disease associations

Epileptic encephalopathy, C0543888

Gene: SYNGAP1 ×

Source: ALL

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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:	8831
Gene Symbol:	SYNGAP1

SYNGAP1

0.400

Biomarker

disease

GENOMICS_ENGLAND

Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses.

2012

Entrez Id:	8831
Gene Symbol:	SYNGAP1

SYNGAP1

0.400

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	8831
Gene Symbol:	SYNGAP1

SYNGAP1

0.400

GeneticVariation

disease

CLINVAR