BMP1, bone morphogenetic protein 1, 649

N. diseases: 121; N. variants: 17
Disease: Osteogenesis imperfecta type III (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.300 GermlineCausalMutation disease ORPHANET Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. 22052668 2012