Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Osteogenesis imperfecta type III (disorder)
|
0.700 | GeneticVariation | 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 type III (disorder)
|
0.700 | GeneticVariation | UNIPROT | Osteogenesis imperfecta: clinical, biochemical and molecular findings. | 16879195 | 2006 | |||||
Osteogenesis imperfecta type III (disorder)
|
0.700 | GeneticVariation | 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)
|
0.700 | GeneticVariation | 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)
|
0.700 | GeneticVariation | 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)
|
0.700 | GeneticVariation | 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)
|
0.700 | GeneticVariation | 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)
|
0.700 | GeneticVariation | 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)
|
0.700 | GeneticVariation | UNIPROT | Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta. | 8364588 | 1993 | |||||
Osteogenesis imperfecta type III (disorder)
|
0.700 | GeneticVariation | 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)
|
0.700 | GeneticVariation | 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)
|
0.700 | GeneticVariation | 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)
|
0.700 | GeneticVariation | UNIPROT | Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. | 2037280 | 1991 | |||||
Osteogenesis imperfecta type III (disorder)
|
0.700 | GeneticVariation | 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)
|
0.700 | GeneticVariation | 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 |