COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
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) 		0.990 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.990 GeneticVariation disease BEFREE Because of (i) absence of COL1A1/2 mutations, (ii) a consanguineous pedigree with a similarly affected sibling and (iii) the existence of congenital joint contractures with absence of recessive variants in PLOD2, mutation analysis was performed of the FKBP10 gene, recently associated with Bruck syndrome and/or recessive OI. 22085994 2012
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.990 Biomarker disease MGD Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms. 22589248 2012
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.990 GeneticVariation disease BEFREE The woman had a daughter who was affected with OI type III and carried an insertion frameshift mutation of c.4308_4309insA in exon 52 of the COL1A1 gene. 23548228 2013
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.990 GeneticVariation disease BEFREE Interestingly, one type III OI sample from a patient with Bruck Syndrome showed COL1A1 and miR-29b expressions alike those from normal samples. 24767406 2014
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.990 CausalMutation disease CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380 2015
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.990 GeneticVariation disease BEFREE The OI type III was associated with a single base change in I51 of COL1A1, possibly causing an exon skipping. 29543922 2018