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: C0220704
Disease: Shprintzen syndrome
Shprintzen 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: C0220704
Disease: Shprintzen syndrome
Shprintzen 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 These data demonstrate new functional mechanisms for Tbx1 in tooth morphogenesis and provide a molecular basis for craniofacial defects in DiGeorge syndrome patients. 20816801 2010
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE Chromosomal region 22q11 is well known for its susceptibility to genomic rearrangements, and these are associated with various syndromes including the velo-cardio-facial/DiGeorge syndrome (VCFS/DGS), the der(22) syndrome, and the cat-eye syndrome. 20060941 2010
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease BEFREE These findings identify Wnt-beta-catenin signaling as a crucial upstream regulator of a Tbx1-Fgf8 signaling pathway and suggest that factors that affect Wnt-beta-catenin signaling could modify the incidence and severity of DGS. 20215350 2010
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE Here, we show that mesoderm specific deletion of Tbx1, a T-box transcription factor and gene for velo-cardio-facial/DiGeorge syndrome, results in defects in formation of the proximal mandible by shifting expression of Fgf8, Bmp4 and their downstream effector genes in mouse embryos at E10.5. 20501333 2010
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 Deletion of Tbx1 or Prodh (22q11 genes independently associated with 22q11DS phenotypes) does not similarly disrupt basal progenitors. 19805316 2009
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 BEFREE Fluorescence in situ hybridization did not show major deletions or duplications of the DiGeorge/VCFS (velocardiofacial syndrome) region at chromosome 22q11.1 as well as the TBX5/TBX3 region at 12q24.1. 18726671 2008
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen 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: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease BEFREE Fluorescence in situ hybridization did not show major deletions or duplications of the DiGeorge/VCFS (velocardiofacial syndrome) region at chromosome 22q11.1 as well as the TBX5/TBX3 region at 12q24.1. 18726671 2008
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease BEFREE Shprintzen syndrome (velo-cardio-facial, VCFS) is a very rare morbid entity, seen in either familial or sporadic forms, with major clinical findings such as facial dysmorphism, cleft palate, cardiovascular (especially conotruncal-anomalies), mild/moderate mental retardation, or, more commonly, observed learning difficulty. 17117043 2007
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE This report describes the use of metyrosine (Demser) in an adolescent male with psychosis associated with the 22q11.2 deletion syndrome (velocardiofacial syndrome; VCFS), diagnosed by fluorescence in situ hybridization (FISH). 17343559 2007
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. 17377518 2007
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE Deletions of proximal 22q11.2 comprise the most frequently occurring microdeletion syndrome, DiGeorge/Velocardiofacial syndrome (DGS/VCFS), in which most breakpoints have been localized to a 3 Mb region containing four large LCRs. 17351135 2007
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE This report describes the use of metyrosine (Demser) in an adolescent male with psychosis associated with the 22q11.2 deletion syndrome (velocardiofacial syndrome; VCFS), diagnosed by fluorescence in situ hybridization (FISH). 17343559 2007
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. 17377518 2007
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease BEFREE Shprintzen syndrome (velo-cardio-facial, VCFS) is a very rare morbid entity, seen in either familial or sporadic forms, with major clinical findings such as facial dysmorphism, cleft palate, cardiovascular (especially conotruncal-anomalies), mild/moderate mental retardation, or, more commonly, observed learning difficulty. 17117043 2007
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE Deletions of proximal 22q11.2 comprise the most frequently occurring microdeletion syndrome, DiGeorge/Velocardiofacial syndrome (DGS/VCFS), in which most breakpoints have been localized to a 3 Mb region containing four large LCRs. 17351135 2007
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease UNIPROT Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. 17273972 2007
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 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 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: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease CTD_human Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. 17000704 2006