| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Osteogenesis imperfecta: clinical, biochemical and molecular findings. | 16879195 | 2006 |
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0.700 | GeneticVariation | UNIPROT | Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. | 16786509 | 2006 |
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0.700 | GeneticVariation | UNIPROT | Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism. | 8800927 | 1996 |
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|
0.700 | GeneticVariation | UNIPROT | Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype. | 7693712 | 1993 |
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0.700 | GeneticVariation | UNIPROT | Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta. | 8401517 | 1993 |
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|
0.700 | GeneticVariation | UNIPROT | Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology. | 8094076 | 1993 |
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0.700 | GeneticVariation | UNIPROT | Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV. | 1642148 | 1992 |
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|
0.700 | GeneticVariation | UNIPROT | Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. | 2052622 | 1991 |
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0.700 | GeneticVariation | UNIPROT | Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method. | 2064612 | 1991 |
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0.700 | GeneticVariation | UNIPROT | Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. | 2897363 | 1988 |