Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Osteogenesis imperfecta type III (disorder)
0.960 CausalMutation disease CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380 2016
Osteogenesis imperfecta type III (disorder)
0.960 CausalMutation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Osteogenesis imperfecta type III (disorder)
0.960 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
Osteogenesis imperfecta type III (disorder)
0.960 Biomarker disease MGD Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms. 22589248 2013
Osteogenesis imperfecta type III (disorder)
0.960 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
Osteogenesis imperfecta type III (disorder)
0.960 GeneticVariation disease UNIPROT Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix. 18670065 2008
Osteogenesis imperfecta type III (disorder)
0.960 GeneticVariation disease UNIPROT Osteogenesis imperfecta: clinical, biochemical and molecular findings. 16879195 2006
Osteogenesis imperfecta type III (disorder)
0.960 GeneticVariation disease BEFREE In this study, we used MSCs from a patient with type III OI who was heterozygous for an IVS 41A+4C mutation in COL1A1. 15815702 2005
Osteogenesis imperfecta type III (disorder)
0.960 GeneticVariation disease BEFREE Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen. 12870654 2004
Osteogenesis imperfecta type III (disorder)
0.960 CausalMutation disease CLINVAR We describe here the clinical, biochemical, and molecular characterization of a girl with severe type III OI caused by a G76E substitution in COL1A1. 11286507 2001
Osteogenesis imperfecta type III (disorder)
0.960 GeneticVariation disease UNIPROT Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online. 10408781 1999
Osteogenesis imperfecta type III (disorder)
0.960 GeneticVariation disease UNIPROT Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta. 9101304 1997
Osteogenesis imperfecta type III (disorder)
0.960 CausalMutation disease CLINVAR Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding. 8723681 1996
Osteogenesis imperfecta type III (disorder)
0.960 GeneticVariation disease UNIPROT Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. 8669434 1996
Osteogenesis imperfecta type III (disorder)
0.960 GeneticVariation disease UNIPROT Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding. 8723681 1996
Osteogenesis imperfecta type III (disorder)
0.960 CausalMutation disease CLINVAR Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. 8669434 1996
Osteogenesis imperfecta type III (disorder)
0.960 CausalMutation disease CLINVAR Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes. 8786074 1996
Osteogenesis imperfecta type III (disorder)
0.960 GeneticVariation disease BEFREE We determined that two siblings with type III osteogenesis imperfecta (OI) had the same single base substitution that converted the codon for glycine (Gly) 862 to a codon for serine (Ser) in exon 44 of the alpha 1 chain of the type I (alpha 1(I)) collagen gene (COL1A1). 7789952 1995
Osteogenesis imperfecta type III (disorder)
0.960 CausalMutation disease CLINVAR We determined that two siblings with type III osteogenesis imperfecta (OI) had the same single base substitution that converted the codon for glycine (Gly) 862 to a codon for serine (Ser) in exon 44 of the alpha 1 chain of the type I (alpha 1(I)) collagen gene (COL1A1). 7789952 1995
Osteogenesis imperfecta type III (disorder)
0.960 GeneticVariation disease UNIPROT Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. 7881420 1995
Osteogenesis imperfecta type III (disorder)
0.960 GeneticVariation disease UNIPROT Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III. 8019571 1994
Osteogenesis imperfecta type III (disorder)
0.960 GeneticVariation disease UNIPROT Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen. 8456809 1993
Osteogenesis imperfecta type III (disorder)
0.960 CausalMutation disease CLINVAR Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen. 8456809 1993
Osteogenesis imperfecta type III (disorder)
0.960 GeneticVariation disease UNIPROT Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta. 8364588 1993
Osteogenesis imperfecta type III (disorder)
0.960 GeneticVariation disease BEFREE We preformed linkage analyses in eight OI type III families using RFLPs associated with the COL1A1 and COL1A2 loci to determine whether mutations in the genes for type I collagen were responsible for this form of OI. 8100856 1993