| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. | 11169766 | 2001 |
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|
C | 0.800 | CausalMutation | CLINVAR | Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. | 11391482 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Mutation analysis of hereditary multiple exostoses in the Chinese. | 10480354 | 1999 |
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|
0.800 | GeneticVariation | UNIPROT | EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. | 10441575 | 1999 |
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|
C | 0.800 | CausalMutation | CLINVAR | Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. | 9463333 | 1998 |
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|
C | 0.800 | CausalMutation | CLINVAR | Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. | 9521425 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. | 9521425 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. | 9463333 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. | 8981950 | 1997 |
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|
0.800 | GeneticVariation | UNIPROT | Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. | 9326317 | 1997 |