Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.010 GeneticVariation disease BEFREE To investigate a human folding disease, NMR studies were carried out on collagen-like peptides to define the structural consequences of a single amino acid change found in patients with osteogenesis imperfecta (OI), a disease characterized by fragile bones. 9799516 1998