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: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.390 Biomarker disease BEFREE Thus, human TBX1 is a candidate for some of the features seen in the 22q11 deletion syndrome. 9268629 1997
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.390 Biomarker disease BEFREE A likely role for Tbx1 haploinsufficiency in psychiatric disease is further suggested by the identification of a family in which the phenotypic features of 22q11DS, including psychiatric disorders, segregate with an inactivating mutation of TBX1. 16684884 2006
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.390 Biomarker disease 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
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.390 GermlineCausalMutation disease ORPHANET Role of TBX1 in human del22q11.2 syndrome. 14585638 2003
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.390 Biomarker disease BEFREE A typical developmental disorder of the pharyngeal apparatus is the 22q11 deletion syndrome (22q11DS), for which Tbx1 is responsible. 21177346 2011
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.390 GeneticVariation disease BEFREE Twenty children and young adults (age range 5 to 33 years, 12 females and eight males) with genetically confirmed 22q11 deletion syndrome (CATCH 22: Cardiac anomaly, Anomalous face, Thymus hypoplasia/aplasia, Cleft palate, and Hypocalcaemia), recruited from a large ongoing study, were given comprehensive assessments with a view to determining the pattern of neuropsychiatric and neuropsychological deficits thought to be part of the syndrome in many cases. 11811651 2002
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.390 GeneticVariation disease BEFREE A study has also shown that phenotypic features of 22q11 deletion syndrome (22q11DS) were segregated with an inactivating mutation of TBX1 in one family, suggesting that the TBX1 gene plays a role in the pathogenesis of some psychiatric disorders. 17850965 2007
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.390 ChromosomalRearrangement disease ORPHANET
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.390 GeneticVariation disease BEFREE Mutations in the coding regions of TBX1 gene have been associated to 22q11 deletion syndrome with cardiac defects and isolated CHD cases, including ventricular septal defect (VSD). 22801995 2012
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.390 GeneticVariation disease 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
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.390 GeneticVariation disease BEFREE Based on these results we conclude that TBX1 variation does not make a strong contribution to the genetic etiology of nonsyndromic forms of psychiatric disorders commonly seen in patients with 22q11DS. 17622328 2007
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		0.310 GeneticVariation disease BEFREE Chromosome 22q11 deletion syndrome (CATCH 22): neuropsychiatric and neuropsychological aspects. 11811651 2002
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		0.310 ChromosomalRearrangement disease ORPHANET
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		0.310 GermlineCausalMutation disease ORPHANET Role of TBX1 in human del22q11.2 syndrome. 14585638 2003
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.010 GeneticVariation disease BEFREE This abnormality involves the deletion of the bases TGA starting at cDNA nucleotide 891 (c891_893delTGA), resulting in the absence of glutamic acid at codon 202 from a highly conserved area of the tafazzin protein, consistent with the diagnosis of Barth syndrome. 20981509 2010
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		0.010 Biomarker disease BEFREE This observation confirms the previous finding of cerebellar anomalies in Shprintzen syndrome, and suggests an overlap between the VCFS and 3C syndrome. 8870617 1996
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.070 Biomarker phenotype BEFREE We have previously shown that Tbx1 heterozygous mice have reduced prepulse inhibition, a behavioral abnormality that is associated with 22q11.2DS and nonsyndromic schizophrenia. 27005988 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.070 Biomarker phenotype BEFREE The identification of candidate genes for heart anomalies, mental illness, and other clinical phenotypes has been reported in the past year with a focus on TBX1 for cardiac and craniofacial phenotypes and COMT and PRODH for psychiatric disorders. 16282778 2005
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.070 Biomarker phenotype BEFREE A study has also shown that phenotypic features of 22q11 deletion syndrome (22q11DS) were segregated with an inactivating mutation of TBX1 in one family, suggesting that the TBX1 gene plays a role in the pathogenesis of some psychiatric disorders. 17850965 2007
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.070 Biomarker phenotype BEFREE Although Tbx1 has been shown to be responsible for many physical defects associated with 22q11.2 haploinsufficiency, Tbx1 heterozygous mice did not display these behavioral abnormalities. 16365290 2005
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.070 GeneticVariation phenotype BEFREE Velocardiofacial (VCFS; 22q11.2 deletion) syndrome is a genetic disorder that results from a hemizygous deletion of the q11.2 region on chromosome 22, and is associated with greatly increased risk for psychiatric disorders, including autism spectrum disorder (ASD) and schizophrenia. 25325218 2014
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.070 Biomarker phenotype BEFREE A likely role for Tbx1 haploinsufficiency in psychiatric disease is further suggested by the identification of a family in which the phenotypic features of 22q11DS, including psychiatric disorders, segregate with an inactivating mutation of TBX1. 16684884 2006
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.070 GeneticVariation phenotype BEFREE Based on these results we conclude that TBX1 variation does not make a strong contribution to the genetic etiology of nonsyndromic forms of psychiatric disorders commonly seen in patients with 22q11DS. 17622328 2007
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		0.100 Biomarker disease HPO
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		0.100 Biomarker disease HPO