Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Osteogenesis imperfecta type III (disorder)
0.990 GeneticVariation disease BEFREE Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen. 12870654 2003
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
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
Osteogenesis imperfecta type III (disorder)
0.990 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)
0.990 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
Osteogenesis imperfecta type III (disorder)
0.990 GeneticVariation disease BEFREE We present a novel splicing mutation in the COL1A1 gene (c.1875+1G>C) in a 16-year-old Brazilian boy diagnosed as a type III osteogenesis imperfecta patient. 19283684 2009
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
Osteogenesis imperfecta type III (disorder)
0.990 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)
0.990 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
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
Osteogenesis imperfecta type III (disorder)
0.990 GeneticVariation disease CLINVAR
Osteogenesis imperfecta type III (disorder)
0.990 Biomarker disease CTD_human
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
Osteogenesis imperfecta type III (disorder)
0.990 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
Osteogenesis imperfecta type III (disorder)
0.990 GeneticVariation disease UNIPROT Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype. 2794057 1989
Osteogenesis imperfecta type III (disorder)
0.990 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)
0.990 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)
0.990 GeneticVariation disease UNIPROT Further, these findings confirm that the OI type-III phenotype, previously thought to be inherited in an autosomal recessive manner, can result from new dominant mutations in the COL1A1 gene of type-I collagen. 2037280 1991
Osteogenesis imperfecta type III (disorder)
0.990 GeneticVariation disease UNIPROT Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. 7881420 1994
Osteogenesis imperfecta type III (disorder)
0.990 GeneticVariation disease UNIPROT Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific. 2511192 1989
Osteogenesis imperfecta type III (disorder)
0.990 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)
0.990 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)
0.990 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)
0.990 GeneticVariation disease UNIPROT An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta. 7691343 1993
Osteogenesis imperfecta type III (disorder)
0.990 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