| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. | 11746045 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual. | 10678662 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis. | 7757086 | 1995 |
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|
0.800 | GeneticVariation | UNIPROT | A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia. | 8019561 | 1994 |
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|
0.800 | GeneticVariation | UNIPROT | The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen. | 8423604 | 1993 |
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|
0.800 | GeneticVariation | UNIPROT | Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia. | 8325895 | 1993 |
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|
0.800 | GeneticVariation | UNIPROT | Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. | 2339128 | 1990 |
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|
0.800 | GeneticVariation | UNIPROT | Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. | 2543071 | 1989 |
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|
A | 0.800 | CausalMutation | CLINVAR |