Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0744669
Disease: Complex congenital heart disease
Complex congenital heart disease
0.010 GeneticVariation disease BEFREE In a consanguineous multiplex family with a laterality defect that resembles situs inversus totalis, and complex congenital heart disease, we combined autozygome and exome analysis to identify a novel homozygous variant in ANKS3. 27417436 2016