DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Profound Mental Retardation ×

Gene: SYNGAP1 ×

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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:	8831
Gene Symbol:	SYNGAP1

SYNGAP1

CUI:	C0020796
Disease:	Profound Mental Retardation

Profound Mental Retardation

0.300

Biomarker

CTD_human

A de novo paradigm for mental retardation.

2010