rs146017816, GATA4

N. diseases: 2
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 Nine distinct mutations including one small deletion mutation (46delS), two small insertion mutations (118-119insA and 125-126insAA), and six non-synonymous mutations (A6V, P163S, E359K, P407Q, S429T and A442V) were identified in 12 of the 486 patients (nine with ventricular septal defect, two with Tetralogy of Fallot, and one with endocardial cushion defect). 18672102 2009