| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Lobstein Disease
|
0.700 | CausalMutation | CLINVAR | Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. | 27510842 | 2017 | |||||
Lobstein Disease
|
0.700 | CausalMutation | CLINVAR | Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. | 25944380 | 2015 | |||||
Lobstein Disease
|
0.700 | CausalMutation | CLINVAR | Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen. | 25963598 | 2015 | |||||
Lobstein Disease
|
0.700 | CausalMutation | CLINVAR | Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: application for diagnosis of osteogenesis imperfecta. | 22753364 | 2012 | |||||
Lobstein Disease
|
0.700 | CausalMutation | CLINVAR | Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. | 19358256 | 2009 | |||||
Lobstein Disease
|
0.700 | CausalMutation | CLINVAR | High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. | 15024692 | 2004 | |||||
Lobstein Disease
|
0.700 | CausalMutation | CLINVAR | COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta. | 12590186 | 2003 | |||||
Lobstein Disease
|
0.700 | CausalMutation | CLINVAR | Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. | 9443882 | 1998 | |||||
Lobstein Disease
|
0.700 | CausalMutation | CLINVAR | Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. | 9295084 | 1997 | |||||
Lobstein Disease
|
0.700 | CausalMutation | CLINVAR | Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. | 7942841 | 1994 | |||||
Osteogenesis imperfecta type III (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Osteogenesis imperfecta type IV (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Osteogenesis imperfecta, recessive perinatal lethal
|
0.700 | CausalMutation | CLINVAR | ||||||||
Osteogenesis imperfecta type IV (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Lobstein Disease
|
0.700 | CausalMutation | CLINVAR | ||||||||
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
Osteoporosis, Postmenopausal
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cortical Congenital Hyperostosis
|
0.700 | CausalMutation | CLINVAR |