TBX20, T-box transcription factor 20, 57057

N. diseases: 45; N. variants: 17
Disease: Atrial Septal Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.050 GeneticVariation group BEFREE A novel TBX20 loss‑of‑function mutation contributes to adult‑onset dilated cardiomyopathy or congenital atrial septal defect. 27510170 2016
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.050 GeneticVariation group BEFREE This is the first association of TBX20 transcriptional activator domain missense mutations with ASD. 25834824 2015
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.050 GeneticVariation group BEFREE Previous studies have demonstrated that mutations in the transcription factor T-box 20 (TBX20) contribute to congenital ASD. 25183037 2014
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.050 GeneticVariation group BEFREE The coding region of TBX20 was directly sequenced in 170 ASDII patients. 19762328 2010
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.050 GeneticVariation group BEFREE These data indicate that the frequency of TBX20 missense mutations occurred in Chinese CHD children is low, but they probably contribute to the risk of atrial septal defect (ASD), total anomalous pulmonary venous connection (TAPVC) and tetralogy of Fallot (TOF) in a small subset of Chinese. 18834961 2009