DisGeNET - a database of gene-disease associations

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation, C4749281

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

UniProt

Gene Full Name

Protein Class

N. diseases_g

DSI _g

DPI _g

pLI

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

Entrez Id:	2903
Gene Symbol:	GRIN2A

GRIN2A

Q12879

glutamate ionotropic receptor NMDA type subunit 2A

Ion channel

212

0.522

0.808

1.00

0.300

None

1.000

1

0

2010

2010