Disease: Tetralogy of Fallot ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.610 GeneticVariation disease BEFREE The six pathogenic variations were identified on the genes CHD7 (CHARGE syndrome), CITED2 (tetralogy of Fallot, ventricular septal defect and atrial septal defect), ZFPM2 (tetralogy of Fallot), MYH6 (atrial septal defect, familial isolated dilated cardiomyopathy) and, in two cases, KMT2D (Kabuki syndrome). 29536580 2018
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.610 Biomarker disease MGD The essential role of Cited2, a negative regulator for HIF-1alpha, in heart development and neurulation. 12149478 2002
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.610 SusceptibilityMutation disease ORPHANET
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.610 Biomarker disease HPO