Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GeneticVariation disease BEFREE Amniotic fluid testing revealed a novel COL1A1 mutation (c.1840G>A; p.Gly614Arg).OI Type II diagnosis was made. 30408804 2019
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GeneticVariation disease UNIPROT Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta. 25958000 2015
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GeneticVariation disease UNIPROT To provide additional data for genotype-phenotype analyses and to determine the proportion of mutations in the type I collagen genes among subjects with lethal forms of OI, we sequenced the coding and exon-flanking regions of COL1A1 and COL1A2 in a cohort of 63 subjects with OI type II, the perinatal lethal form of the disease. 18996919 2009
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GeneticVariation disease BEFREE To provide additional data for genotype-phenotype analyses and to determine the proportion of mutations in the type I collagen genes among subjects with lethal forms of OI, we sequenced the coding and exon-flanking regions of COL1A1 and COL1A2 in a cohort of 63 subjects with OI type II, the perinatal lethal form of the disease. 18996919 2009
Osteogenesis imperfecta, dominant perinatal lethal
0.890 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, dominant perinatal lethal
0.890 Biomarker disease MGD ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta. 18248096 2008
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GeneticVariation disease UNIPROT Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene. 16566045 2006
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GeneticVariation disease UNIPROT Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. 16786509 2006
Osteogenesis imperfecta, dominant perinatal lethal
0.890 Biomarker disease MGD Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice. 10608859 1999
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GeneticVariation disease UNIPROT Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online. 10627137 1998
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GeneticVariation disease BEFREE Perinatal lethal osteogenesis imperfecta is the result of heterozygous mutations of the COL1A1 and COL1A2 genes. 10627137 1998
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GeneticVariation disease UNIPROT (G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta? 9143923 1997
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GeneticVariation disease UNIPROT 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, dominant perinatal lethal
0.890 GeneticVariation disease BEFREE Perinatal lethal osteogenesis imperfecta is the result of heterozygous mutations of the COL1A1 and COL1A2 genes that encode the alpha 1(I) and alpha 2(I) chains of type I collagen, respectively. 7643358 1995
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GeneticVariation disease BEFREE We identified two infants with lethal (type II) osteogenesis imperfecta (OI) who were heterozygous for mutations in the COL1A1 gene that resulted in substitutions of aspartic acid for glycine at position 220 and arginine for glycine at position 664 in the product of one COL1A1 allele in each individual. 7487936 1995
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GeneticVariation disease UNIPROT Osteogenesis imperfecta: comparison of molecular defects with bone histological changes. 7520724 1994
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GeneticVariation disease UNIPROT Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta. 7961597 1994
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GeneticVariation disease UNIPROT In this study we describe a new dominant point mutation in COL1A1 causing a lethal form of Osteogenesis imperfecta (type II B). 7679635 1993
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GeneticVariation disease UNIPROT Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta. 8349697 1993
Osteogenesis imperfecta, dominant perinatal lethal
0.890 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, dominant perinatal lethal
0.890 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, dominant perinatal lethal
0.890 GeneticVariation disease UNIPROT We describe a dominant point mutation in the COL1A1 gene causing extremely severe osteogenesis imperfecta (OI type II/III) which was detected in the dermal fibroblasts of a proband, diagnosed by ultrasonography at 24 weeks of gestation. 8364588 1993
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GeneticVariation disease BEFREE We describe a dominant point mutation in the COL1A1 gene causing extremely severe osteogenesis imperfecta (OI type II/III) which was detected in the dermal fibroblasts of a proband, diagnosed by ultrasonography at 24 weeks of gestation. 8364588 1993
Osteogenesis imperfecta, dominant perinatal lethal
0.890 GeneticVariation disease BEFREE Fibroblast cell strains from three infants with perinatal lethal osteogenesis imperfecta (OI) carry unique mutations in COL1A1 (the gene encoding the pro alpha 1(I) chain of type I procollagen) that impair chain association. 8349697 1993