Disease: DiGeorge Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.340 Biomarker disease BEFREE DiGeorge syndrome critical region 2 (DGCR2) is located in the 22q11.2 locus, whose deletion is a major risk factor for SZ. 29305086 2018
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.340 Biomarker disease BEFREE We report the case of a girl with a terminal deletion of the short arm of chromosome 10 (10p12.1-pter), including both HDR locus and the DiGeorge critical region 2 (DGCR2), with HDR phenotype but not DiGeorge syndrome 2 features. 19022243 2009
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.340 GeneticVariation disease BEFREE High-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the entire human DiGeorge syndrome critical region 2 (DGCR2) gene at 22q11.2. 11589220 2001
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.340 Biomarker disease BEFREE A critical haploinsufficiency region for DGS/VCFS was defined on 10p (DGCR2). 10633131 2000
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.340 Biomarker disease CTD_human