| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta. | 26627451 | 2015 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. | 25944380 | 2015 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. | 23692737 | 2013 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. | 21667357 | 2012 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype. | 22206639 | 2011 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Collagen structure and stability. | 19344236 | 2009 |
|||
|
T | 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 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | The human type I collagen mutation database. | 9016532 | 1997 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta. | 8613526 | 1996 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. | 7695699 | 1994 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. | 8218237 | 1993 |