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 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 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 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 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 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: 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 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 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 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 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 ChromosomalRearrangement disease ORPHANET