Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.110 GeneticVariation group BEFREE Q79R SHP2 embryonic hearts showed altered cardiomyocyte cell cycling, ventricular noncompaction, and ventricular septal defects, while, in the postnatal cardiomyocyte, Q79R SHP2 expression was completely benign. 17641779 2007
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.110 CausalMutation group CLINVAR
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.110 Biomarker group HPO