Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Osteogenesis imperfecta type III (disorder)
0.990 Biomarker disease CTD_human
Osteogenesis imperfecta type III (disorder)
0.990 Biomarker disease GENOMICS_ENGLAND
Osteogenesis imperfecta type III (disorder)
0.990 Biomarker disease GENOMICS_ENGLAND
Osteogenesis imperfecta type III (disorder)
0.990 GeneticVariation disease CLINVAR
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 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 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 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 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 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 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 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 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)
0.990 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 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 Osteogenesis imperfecta: clinical, biochemical and molecular findings. 16879195 2006
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 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 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 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 Biomarker disease GENOMICS_ENGLAND SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. 8100209 1993
Osteogenesis imperfecta type III (disorder)
0.990 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)
0.990 GeneticVariation disease UNIPROT Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta. 1770532 1991
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