DisGeNET - a database of gene-disease associations

SYNGAP1, synaptic Ras GTPase activating protein 1, 8831

N. diseases: 13; N. variants: 80

Disease: Epileptic encephalopathy ×

Source: CURATED ×

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0543888
Disease:	Epileptic encephalopathy

Epileptic encephalopathy

0.400

Biomarker

disease

GENOMICS_ENGLAND

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

23141534

2012

CUI:	C0543888
Disease:	Epileptic encephalopathy

Epileptic encephalopathy

0.400

Biomarker

disease

GENOMICS_ENGLAND