SAP130, Sin3A associated protein 130, 79595

N. diseases: 9; N. variants: 0
Disease: Left ventricular hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344906
Disease: Left ventricular hypoplasia
Left ventricular hypoplasia 		0.010 Biomarker disease BEFREE Mouse and zebrafish modeling showed that Sap130 mediates left ventricular hypoplasia, whereas Pcdha9 increases penetrance of aortic valve abnormalities, both signature HLHS defects. 28530678 2017