Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 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
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.990 GeneticVariation disease UNIPROT Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta. 8364588 1993
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease UNIPROT A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. 8444468 1993
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 Biomarker disease MGD Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta. 8446583 1993
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease UNIPROT Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta. 8456807 1993
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		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
Entrez Id: 55512
Gene Symbol: SMPD3
SMPD3 		0.200 Biomarker disease MGD Fragilitas ossium (fro/fro) in the mouse: a model for a recessively inherited type of osteogenesis imperfecta. 8456819 1993
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 Biomarker disease MGD Bone mineralization in an osteogenesis imperfecta mouse model studied by small-angle x-ray scattering. 8567960 1996
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		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
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		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
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 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
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease BEFREE Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen. 8728690 1996
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease UNIPROT Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism. 8800927 1996
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease UNIPROT Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta. 8829649 1996
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 Biomarker disease MGD Heterozygous oim mice exhibit a mild form of osteogenesis imperfecta. 8968022 1996
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		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
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 Biomarker disease MGD Collagen from the osteogenesis imperfecta mouse model (oim) shows reduced resistance against tensile stress. 9202055 1997
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		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
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 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
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease BEFREE A new recurrent point mutation in the COL1A2 gene was found in a patient with type III osteogenesis imperfecta (OI). 11359465 2001
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 Biomarker disease MGD The role of the alpha2 chain in the stabilization of the collagen type I heterotrimer: a study of the type I homotrimer in oim mouse tissues. 12206762 2002
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		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
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		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
Entrez Id: 55512
Gene Symbol: SMPD3
SMPD3 		0.200 Biomarker disease MGD A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse. 16025116 2005
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease UNIPROT Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. 16786509 2006