DisGeNET - a database of gene-disease associations

GRIN2D, glutamate ionotropic receptor NMDA type subunit 2D, 2906

N. diseases: 82; N. variants: 7

Disease: Intellectual Disability ×

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C3714756
Disease:	Intellectual Disability

Intellectual Disability

0.400

Biomarker

group

GENOMICS_ENGLAND

GRIN2D variants in three cases of developmental and epileptic encephalopathy.

30280376

2018

CUI:	C3714756
Disease:	Intellectual Disability

Intellectual Disability

0.400

Biomarker

group

HPO