rs121918466, PTPN11

N. diseases: 14
Disease: Ventricular Septal Defects ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
0.010 GeneticVariation 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