Disease: Pulmonary Atresia With Ventricular Septal Defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344976
Disease: Pulmonary Atresia With Ventricular Septal Defect
Pulmonary Atresia With Ventricular Septal Defect 		0.010 Biomarker disease BEFREE In conclusion, three rare novel CNVs were identified only in PA-VSD: 16p11.2 del (PPP4C), 5q35.3 del (FLT4) and 5p13.1 del (RICTOR), implicating novel candidate genes of interest for PA-VSD. 30745907 2019