TBX20, T-box transcription factor 20, 57057

N. diseases: 45; N. variants: 17
Disease: Congenital Heart Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.030 GeneticVariation group BEFREE Mild decrease in TBX20 promoter activity is a potentially protective factor against congenital heart defects in the Han Chinese population. 27034249 2016
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.030 GeneticVariation group BEFREE Ostium secundum atrial septal defects (ASDII) account for approximately 10% of all congenital heart defects (CHD), and mutations in cardiac transcription factors, including TBX20, were identified as an underlying cause for ASDII. 19762328 2010
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.030 GeneticVariation group BEFREE Recently two TBX20 mutations have been associated with human heart defects in two Caucasian families, but TBX20 mutations underlying the more common isolated forms of CHD are still unknown. 18834961 2009