Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		0.030 GeneticVariation disease BEFREE Two main phenotypes have been defined depending on the location of the deletion: HDR syndrome (Hypoparathyroidism, sensorineural Deafness, and Renal disease), and DGS2 (DiGeorge syndrome type 2). 26762557 2016
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.030 GeneticVariation disease BEFREE GATA3 mutations cause HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome and, consistent with the presence of the second DiGeorge syndrome locus (DGS2) proximal to GATA3, distal 10p deletions often leads to HDR and DiGeorge syndromes. 21242646 2011
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.030 GeneticVariation disease BEFREE GATA3 mutations cause HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome and, consistent with the presence of the second DiGeorge syndrome locus (DGS2) proximal to GATA3, distal 10p deletions often leads to HDR and DiGeorge syndromes. 21242646 2011
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		0.030 GeneticVariation disease BEFREE GATA3 mutations cause HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome and, consistent with the presence of the second DiGeorge syndrome locus (DGS2) proximal to GATA3, distal 10p deletions often leads to HDR and DiGeorge syndromes. 21242646 2011
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		0.030 Biomarker disease BEFREE Our patient is the first case with a large deletion of the short arm of chromosome 10 - that certainly involves DGCR2 - with the HDR phenotype but without the clinical features of DGS2. 19022243 2009
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.030 Biomarker disease BEFREE Fluorescence in situ hybridization (FISH) experiments using phage artificial chromosome (PAC) and yeast artificial chromosome (YAC) clones indicated that the chromosomal breakpoint was located at the proximal boundary of the DiGeorge syndrome 2 (DGS2) critical region. 12407714 2002
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.030 Biomarker disease BEFREE Fluorescence in situ hybridization (FISH) experiments using phage artificial chromosome (PAC) and yeast artificial chromosome (YAC) clones indicated that the chromosomal breakpoint was located at the proximal boundary of the DiGeorge syndrome 2 (DGS2) critical region. 12407714 2002
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.030 Biomarker disease BEFREE The critical DGS2 region is defined by two DGS patients, and maps within a 1 cM interval including D10S547 and D10S585. 9781025 1998
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.030 GeneticVariation disease BEFREE Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). 9781025 1998
CUI: C1832431
Disease: Digeorge Syndrome-Velocardiofacial Syndrome Complex 2
Digeorge Syndrome-Velocardiofacial Syndrome Complex 2 		0.010 Biomarker disease BEFREE Two main phenotypes have been defined depending on the location of the deletion: HDR syndrome (Hypoparathyroidism, sensorineural Deafness, and Renal disease), and DGS2 (DiGeorge syndrome type 2). 26762557 2016
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 GeneticVariation disease BEFREE DiGeorge syndrome (DGS) is a developmental field defect, characterised by absent/hypoplastic thymus and parathyroid, and conotruncal heart defects, with haploinsufficiency loci at 22q (DGS1) and 10p (DGS2). 9781025 1998