DisGeNET - a database of gene-disease associations

GRIN2B, glutamate ionotropic receptor NMDA type subunit 2B, 2904

N. diseases: 249; N. variants: 83

Disease: Squamous cell carcinoma of esophagus ×

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:	C0279626
Disease:	Squamous cell carcinoma of esophagus

Squamous cell carcinoma of esophagus

0.030

PosttranslationalModification

disease

BEFREE

NMDAR2B promoter methylation could be a clinically applicable marker in ESCC.

18006766

2007

CUI:	C0279626
Disease:	Squamous cell carcinoma of esophagus

Squamous cell carcinoma of esophagus

0.030

Biomarker

disease

BEFREE

NMDA receptor Type 2B (NMDAR2B) is a candidate TSG first identified in esophageal squamous cell carcinoma (ESCC).

17620329

2007

CUI:	C0279626
Disease:	Squamous cell carcinoma of esophagus

Squamous cell carcinoma of esophagus

0.030

PosttranslationalModification

disease

BEFREE

Thus, NMDAR2B promoter methylation is common in ESCC, abrogating gene transcription and leading to cellular resistance to apoptosis.

16585162

2006