Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
0.010 GeneticVariation BEFREE Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. 17206620 2007