DisGeNET - a database of gene-disease associations

DGCR2, DiGeorge syndrome critical region gene 2, 9993

N. diseases: 77; N. variants: 5

Disease: Shprintzen syndrome ×

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:	C0220704
Disease:	Shprintzen syndrome

Shprintzen syndrome

0.310

Biomarker

disease

BEFREE

A critical haploinsufficiency region for DGS/VCFS was defined on 10p (DGCR2).

2000

CUI:	C0220704
Disease:	Shprintzen syndrome

Shprintzen syndrome

0.310

Biomarker

disease

CTD_human