| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. | 27519266 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta. | 26627451 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms. | 22589248 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype. | 22206639 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Collagen structure and stability. | 19344236 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. | 17078022 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | The human type I collagen mutation database. | 9016532 | 1997 |
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|
A | 0.700 | CausalMutation | CLINVAR | 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 |
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|
A | 0.700 | CausalMutation | CLINVAR | Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. | 7695699 | 1994 |
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|
A | 0.700 | CausalMutation | CLINVAR | Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. | 8218237 | 1993 |