TBX20, T-box transcription factor 20, 57057

N. diseases: 45; N. variants: 17
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 GeneticVariation disease BEFREE A Tbx20 mutation associated with human familial DCM sterically interferes with the TBX20-CASZ1 interaction and provides a physical basis for how this human mutation disrupts normal cardiac function. 28945738 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 GeneticVariation disease BEFREE A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect. 25183037 2014