Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 Biomarker group BEFREE In cases of d-TGA, the FINE method has a high success rate in generating 3 specific abnormal cardiac views and therefore can be performed to screen for this congenital defect. 31675129 2020
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 Biomarker group BEFREE In this study the TGA/Chemometric test was applied for diagnosis of a case of congenital hemolytic anemia for which the common first level diagnostic tests were not able to find the erythrocyte congenital defect. 31632985 2019
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 Biomarker group BEFREE For example, haploinsufficiency of TBX1 is responsible for many structural malformations in DiGeorge syndrome caused by a chromosome 22q11.2 deletion. 29726930 2018
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 Biomarker group BEFREE Because pharyngeal arch morphogenesis is compromised in Tbx1-deficient animals, the malformations were considered secondary. 30067987 2018
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 Biomarker group 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
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 Biomarker group 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
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 Biomarker group 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
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 GeneticVariation group BEFREE Above findings may shed light on the mechanism of TBX1 mutations leading to renal malformations found in patients carrying a 22q11 deletion. 22842189 2014
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 GeneticVariation group BEFREE Haploinsufficiency of TBX1, encoding a T-box transcription factor, is largely responsible for the physical malformations in velo-cardio-facial /DiGeorge/22q11.2 deletion syndrome (22q11DS) patients. 21796729 2011
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 GeneticVariation group BEFREE This hypomorphic Tbx1 allele per se results in defects resembling 22q11DS but with a low penetrance of hallmark craniofacial malformations, unless chordin is mutant. 19247433 2009
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 GeneticVariation group BEFREE Haploinsufficiency of the TBX1 gene has been shown to be sufficient to cause the core physical malformations associated with 22q11DS in mice and humans and via abnormal brain development could contribute to 22q11DS-related and isolated psychiatric disease. 17622328 2007
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 Biomarker group BEFREE In recent years, through a variety of mouse mutants that carry multigene and single gene mutations, we have learned that mutation in a single gene, Tbx1, is responsible for most of the congenital defects seen in the mouse models and in patients. 16616724 2006
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 GeneticVariation group BEFREE Inactivation of the Tbx1 gene in mice produces a variety of malformations including abnormal branching of the heart outflow tract, deficiencies in the branchial arch derivatives, agenesis of pharyngeal glands and abnormal development of the auditory system. 15652707 2005
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 Biomarker group BEFREE DiGeorge and Velocardiofacial syndromes (DGS/VCFS) are endowed by a similar complex phenotype including cardiovascular, craniofacial, and thymic malformations, and are associated with heterozygous deletions of 22q11 chromosomal band. 15177686 2004
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 Biomarker group BEFREE Haploinsufficiency of Tbx1 is likely a major determinant of cardiac and craniofacial birth defects associated with DiGeorge syndrome. 12533514 2003
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 Biomarker group BEFREE 22q11 deletion syndrome (22qDS), also known as DiGeorge or velocardiofacial syndrome (DGS/VCFS), is a relatively common genetic anomaly that results in malformations of the heart, face and limbs. 12175881 2002
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 Biomarker group BEFREE Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is a congenital anomaly disorder associated with hemizygous 22q11 deletions. 11709542 2001
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 Biomarker group BEFREE When nuchal translucency measurement is increased, CATCH 22 spectrum of malformations should be considered and therefore a thorough karyotype analysis should be performed to exclude microdeletion of chromosome 22. 9621387 1998
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 Biomarker group BEFREE These results strongly support the hypothesis that haploinsufficiency of a gene or genes within 10p (the DGSII locus) can cause the DGS/VCFS spectrum of malformation. 8696341 1996
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 Biomarker group BEFREE Other signs of VCFS should be looked for in children with cerebellar malformation. 8870617 1996
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 Biomarker group BEFREE Deletions within 22q11 have been associated with a wide variety of birth defects embraced by the acronym CATCH22 and including the DiGeorge syndrome, Shprintzen syndrome (velocardiofacial syndrome) and congenital heart disease. 7655455 1995