PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle
0.010 GeneticVariation disease BEFREE This is observed in Splotch (Pax3) mutants with PTA or DORV and may be a result of defects in neural crest migration, known to affect OFT septation. 16397144 2006