TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE We identified three mutations of TBX1 in two unrelated patients without the 22q11.2 deletion-one with sporadic conotruncal anomaly face syndrome/velocardiofacial syndrome and one with sporadic DiGeorge's syndrome-and in three patients from a family with conotruncal anomaly face syndrome/velocardiofacial syndrome. 14585638 2003
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease MGD Distinct regulatory cascades govern extraocular and pharyngeal arch muscle progenitor cell fates. 19531352 2009
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE Chromosome 22q11 deletion or CATCH 22 is associated with DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. 9986884 1999
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relatively common human disorder, usually associated with deletions of chromosome 22q11. 11242110 2001
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE These include the 3-Mb region commonly deleted in DiGeorge/velocardiofacial syndrome (DGS/VCFS), the cat eye syndrome (CES) region, and more distal regions in 22q11 that have recently been shown to be deleted. 18033723 2008
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease LHGDN Genetic dissection of the DiGeorge syndrome phenotype. 12858556 2002
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease BEFREE Here, the genetic pathways regulating cardiac neural crest development are reviewed and the evidence implicating TBX1 and other genes on chromosome 22q11 in the pathogenesis of DiGeorge syndrome is summarized. 11585671 2001
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease BEFREE This was associated with middle and inner ear malformations, analogous to Mondini dysplasia in humans reported to occur in VCFS/DGS patients. 11709542 2001
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease LHGDN By providing functional data to indicate loss-of-function produced by the 1223delC TBX1 mutation, our results provide strong support for the conclusion that TBX1 mutations can cause DGS in humans. 15703190 2005
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease MGD Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract. 15175244 2004
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease MGD Mouse studies have shown that the Tbx1 gene is haploinsufficient, as expected for a DGS candidate gene, and that it is required for the development of pharyngeal arches and pouches, as predicted by the DGS clinical phenotype. 11971873 2002
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease BEFREE The 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome; DiGeorge syndrome) is a congenital anomaly disorder in which haploinsufficiency of TBX1, encoding a T-box transcription factor, is the major candidate for cardiac outflow tract (OFT) malformations. 28346476 2017
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease BEFREE PRODH maps to 22q11 in the region deleted in the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) and encodes proline oxidase (POX), a mitochondrial inner-membrane enzyme that catalyzes the first step in the proline degradation pathway. 15662599 2005
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GermlineCausalMutation disease ORPHANET We identified three mutations of TBX1 in two unrelated patients without the 22q11.2 deletion-one with sporadic conotruncal anomaly face syndrome/velocardiofacial syndrome and one with sporadic DiGeorge's syndrome-and in three patients from a family with conotruncal anomaly face syndrome/velocardiofacial syndrome. 14585638 2003
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease BEFREE To support this idea further, we identified a family that carries an interstitial duplication of the same 3 Mb region that is deleted in VCFS/DGS patients. 10369860 1999
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease MGD DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. 11242110 2001
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE The DiGeorge anomaly (CATCH 22, DiGeorge/velocardiofacial syndrome). 9801257 1998
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease MGD Our data show that haploinsufficiency of Tbx1 is sufficient to generate at least one important component of the DiGeorge syndrome phenotype in mice, and demonstrate the suitability of the mouse for the genetic dissection of microdeletion syndromes. 11242049 2001
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease MGD Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants. 16696966 2006
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease BEFREE We showed that inactivation of Bmp4 from Tbx1-expressing cells leads to the spectrum of deformities resembling the cardiovascular defects observed in human DiGeorge syndrome patients. 21123999 2011
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE The low-copy repeat (LCR) is a new class of repetitive DNA element and has been implicated in many human disorders, including DiGeorge/velocardiofacial syndrome (DGS/VCFS). 16307865 2006
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND We identified three mutations of TBX1 in two unrelated patients without the 22q11.2 deletion-one with sporadic conotruncal anomaly face syndrome/velocardiofacial syndrome and one with sporadic DiGeorge's syndrome-and in three patients from a family with conotruncal anomaly face syndrome/velocardiofacial syndrome. 14585638 2003
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE This report describes a newborn girl presenting with some of the common features of DiGeorge syndrome/velocardiofacial syndrome (DGS/VCFS), including hypocalcemia, atrial septal defect, and aortic stenosis. 30799418 2019
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11.2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs). 28059126 2017
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease BEFREE Mutations in human T-box genes TBX3, TBX5, and TBX1 cause severe genetic disorders known as Ulnar-Mammary syndrome (UMS), Holt-Oram syndrome (HOS), and DiGeorge syndrome, respectively. 12005433 2002