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 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: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
1.000 GeneticVariation disease BEFREE MLPA revealed a deletion in 22q11.1q11.2 spanning from the cat eye syndrome region to the most commonly deleted region in DGS/VCFS patients. 30799418 2019
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
1.000 Biomarker disease BEFREE For example, haploinsufficiency of TBX1 is responsible for many structural malformations in DiGeorge syndrome caused by a chromosome 22q11.2 deletion. 29726930 2018
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 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 GeneticVariation disease BEFREE In rare patients, mutations in a single gene, TBX1, have been described resulting in a DGS phenotype. 28436605 2017
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen 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 GeneticVariation disease BEFREE The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 188400) is the most common microdeletion syndrome. 26742502 2016
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
1.000 AlteredExpression disease BEFREE Therefore, our result further confirms the pathogenic basis of <i>Tbx1</i> in DGS, points out the crucial role of DNA binding activity of TBX1 for the ear function, and provides additional animal model for studying the DGS disease mechanisms. 28105375 2016
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
1.000 AlteredExpression disease BEFREE The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation is highly variable. 25892112 2015
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
1.000 Biomarker disease BEFREE T-box transcription factor TBX1 is the major candidate gene for 22q11.2 deletion syndrome (22q11.2DS, DiGeorge syndrome/Velo-cardio-facial syndrome), whose phenotypes include craniofacial malformations such as dental defects and cleft palate. 25556186 2015
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
1.000 Biomarker disease BEFREE T-box transcription factor, TBX1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorge/ Velo-cardio-facial syndrome) characterized by facial defects, thymus hypoplasia, cardiovascular anomalies and cleft palates. 25209980 2015
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
1.000 Biomarker disease BEFREE T-box transcription factor, TBX1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorge/ Velo-cardio-facial syndrome) characterized by facial defects, thymus hypoplasia, cardiovascular anomalies and cleft palates. 25209980 2015
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
1.000 GeneticVariation disease BEFREE T-box transcription factor TBX1 is the major candidate gene for 22q11.2 deletion syndrome (22q11.2DS, DiGeorge syndrome/Velo-cardio-facial syndrome), whose phenotypes include craniofacial malformations such as dental defects and cleft palate. 25556186 2015
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
1.000 GeneticVariation disease BEFREE Although TBX1 mutations have been identified in patients with 22q11.2 deletion syndrome (22q11.2DS)-like phenotypes including characteristic craniofacial features, cardiovascular anomalies, hypoparathyroidism, and thymic hypoplasia, the frequency of TBX1 mutations remains rare in deletion-negative patients. 24637876 2014
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
1.000 GeneticVariation disease BEFREE Haploinsufficiency or mutation of TBX1 is largely responsible for the etiology of physical malformations in individuals with velo-cardio-facial/DiGeorge syndrome (VCFS/DGS/22q11.2 deletion syndrome). 24797903 2014
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
1.000 Biomarker disease MGD Our data reveal a molecular mechanism for a specific chromatin modification of the Tbx1 locus intersecting with an environmental determinant, modeling variability in DiGeorge syndrome. 22921202 2012
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
1.000 Biomarker disease BEFREE The duplicated region encompasses 14 genes, excluding TBX1 but including CRKL, ZNF74, PIK4CA, SNAP29 and PCQAP known to contribute to several aspects of the DGS/VCFS phenotype. 22796526 2012
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
1.000 Biomarker disease BEFREE This article will discuss recent developmental biologic understanding of the role of TBX1 and genetic modifiers generating the phenotypic variability seen in VCFS patients. 23000736 2012
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 Biomarker disease MGD Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice. 21177346 2011
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
1.000 Biomarker disease BEFREE Tbx1, the major candidate gene for DiGeorge syndrome, is a critical transcriptional regulator of second heart field development. 21591244 2011
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
1.000 GeneticVariation disease BEFREE DiGeorge syndrome, or velocardiofacial syndrome (DGS/VCFS), is a rare and usually sporadic congenital genetic disorder resulting from a constitutional microdeletion at chromosome 22q11.2. 20730472 2011
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
1.000 AlteredExpression disease BEFREE Using iPSCs derived from three schizophrenia (SZ) patients, one of whom has 22q11.2del (velocardiofacial syndrome; VCFS), the authors developed a culture system to study SZ on a molecular and cellular level. 21797804 2011
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
1.000 AlteredExpression disease BEFREE Using iPSCs derived from three schizophrenia (SZ) patients, one of whom has 22q11.2del (velocardiofacial syndrome; VCFS), the authors developed a culture system to study SZ on a molecular and cellular level. 21797804 2011