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: C0741916
Disease: Cardiac defects
Cardiac defects
0.050 Biomarker group BEFREE Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice. 30933971 2019
CUI: C0741916
Disease: Cardiac defects
Cardiac defects
0.050 GeneticVariation group BEFREE It would also be advisable that children with isolated CTD should be carefully examined to detect the other morphologic abnormalities of DGA and VCFS, or CATCH 22 (cardiac defects, abnormal facies, thymic hypoplasia/aplasia, cleft palate, hypocalcemia, and 22q11 deletion). 9216164 1997
CUI: C0741916
Disease: Cardiac defects
Cardiac defects
0.050 GeneticVariation group BEFREE The CATCH 22 acronym outlines the main clinical features of 22q11.2 deletions (cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia), usually found in DiGeorge (DGS) and velo-cardio-facial (VCFS) syndromes. 9063746 1997
CUI: C0741916
Disease: Cardiac defects
Cardiac defects
0.050 Biomarker group BEFREE CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, cleft palate, hypoparathyroidism, and hypocalcemia. 9099830 1997
CUI: C0741916
Disease: Cardiac defects
Cardiac defects
0.050 Biomarker group BEFREE DiGeorge (DGS, MIM 188400) and velocardiofacial (VCFS, MIM 192430) syndromes may present many clinical problems including cardiac defects, hypoparathyroidism, T-cell immunodeficiency and facial dysmorphism. 8696341 1996