COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Osteogenesis imperfecta type IV (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.970 GeneticVariation disease UNIPROT Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen. 9600458 1998
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.970 GeneticVariation disease BEFREE Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1. 9007315 1996