Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia
0.310 GeneticVariation phenotype 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: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia
0.310 Biomarker phenotype 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