Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.310 GeneticVariation group LHGDN Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. 17273977 2007
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.310 Biomarker group CTD_human Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. 17273977 2007