MDM4, MDM4 regulator of p53, 4194

N. diseases: 265; N. variants: 9
Disease: Atrioventricular Septal Defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		0.010 GeneticVariation disease BEFREE Six genes (NIPBL, CHD7, CEP152, BMPR1a, ZFPM2, and MDM4) were enriched for rare variants in AVSD compared with controls, including three syndrome-associated genes (NIPBL, CHD7, and CEP152). 25996639 2016