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 The other chromosome 22 homologue carries a duplication of the Velocardiofacial/DiGeorge syndrome (VCFS/DGS) region. 16708226 2006
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease BEFREE We can partially rescue one salient feature of DGS in Crkl+/-;Tbx1+/- embryos by genetically reducing the amount of RA produced in the embryo. 16399080 2006
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease CTD_human We can partially rescue one salient feature of DGS in Crkl+/-;Tbx1+/- embryos by genetically reducing the amount of RA produced in the embryo. 16399080 2006
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease CTD_human Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. 16399080 2006
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE FISH studies using 4 locus-specific DNA probes in the 22q11.2 region (N25 probe to detect the D22S75 locus within the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) critical region, a clone to detect the Bid locus just distal to the cat eye syndrome (CES) critical region and two clones 77H2 and 109L3 to detect the proximal end of the CES critical region, (CECR2 and CECR7), did not reveal any hybridization signal with the marker chromosome. 16915592 2006
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease CTD_human Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. 17000704 2006
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease BEFREE The differentially deleted regions contain several hypothetical proteins and UniGene clusters and may partially explain the clinical heterogeneity observed in DGS/VCFS patients with the 3-Mb common deletion. 16307865 2006
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 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 Biomarker disease BEFREE In humans, TBX1 is implicated in the etiology of the DiGeorge syndrome. 15652707 2005
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE Cytogenetic and FISH analysis was performed in 139 patients to detect the pathognomonic of Di George/ Velocardiofacial syndrome (DGS/VFCS) deletion 22q11.2. 15523900 2005
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease BEFREE The DiGeorge critical region 6 (DGCR6) gene exists in two highly homologous copies (DGCR6 and DGCR6L) on chromosome 22q11 and is deleted in patients with velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). 15821931 2005
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE 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: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE Cytogenetic and FISH analysis was performed in 139 patients to detect the pathognomonic of Di George/ Velocardiofacial syndrome (DGS/VFCS) deletion 22q11.2. 15523900 2005
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease BEFREE The DiGeorge critical region 6 (DGCR6) gene exists in two highly homologous copies (DGCR6 and DGCR6L) on chromosome 22q11 and is deleted in patients with velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). 15821931 2005
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen 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 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 BEFREE Schizophrenia (SCZD) or schizoaffective disorders are quite common features in patients with DiGeorge/velo-cardio-facial syndrome (DGS/VCFS) as a result of chromosome 22q11.2 aploinsufficiency. 15532024 2004
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease BEFREE Children with 22q11.2 microdeletions (Velocardiofacial Syndrome; VCFS) have previously been shown to exhibit learning deficits and elevated rates of psychopathology. 15788257 2004
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease BEFREE The Tbx1 genetic pathway and the cell biology of tissues contributing to pharyngeal arch arteries and cardiac outflow tract are the foundation for understanding congenital heart disease in DiGeorge syndrome. 15096950 2004
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease MGD Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors. 15469978 2004
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease BEFREE Chromosome 22q11.2 deletions are found in almost 90% of patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS). 14681306 2004
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease MGD Interestingly, bacterial artificial chromosome (BAC) transgenic mice overexpressing human TBX1 and three other transgenes, had similar malformations as VCFS/DGS patients. 15190012 2004
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease CTD_human Interestingly, bacterial artificial chromosome (BAC) transgenic mice overexpressing human TBX1 and three other transgenes, had similar malformations as VCFS/DGS patients. 15190012 2004
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease BEFREE Deletions of chromosome 22q11.2 are found in the vast majority of patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS). 14708107 2004