| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.010 | GeneticVariation | BEFREE | We show that the most significant SNP, rs4730222, exhibits differential nuclear protein binding in electrophoretic mobility shift assays and drives increased expression of an alternative isoform of HBP1 in a heterozygote chondrosarcoma cell line, in a CRISPR-edited osteosarcoma cell line, and in chondrocytes derived from osteoarthritis patients. | 31164647 | 2019 |
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0.010 | GeneticVariation | BEFREE | Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. | 24324705 | 2013 |
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|
0.010 | GeneticVariation | BEFREE | Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. | 24324705 | 2013 |
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|
0.010 | GeneticVariation | BEFREE | Of the 13 chondrosarcomas analyzed, six (46.1%) displayed IDH1/2 mutations (the predominant type was IDH1 R132C). | 22323113 | 2012 |
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|
0.010 | GeneticVariation | BEFREE | The MTHFR C677T polymorphism may not be important in an individual's susceptibility to osteosarcoma and chondrosarcoma in Turkey and may not be a useful marker for identifying patients at high risk of developing sarcomas. | 18498722 | 2008 |
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|
0.010 | GeneticVariation | BEFREE | Two missense mutations in EXT2 (D227E and R299H) were detected among the chondrosarcoma cases. | 15796962 | 2005 |
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0.010 | GeneticVariation | BEFREE | Two missense mutations in EXT2 (D227E and R299H) were detected among the chondrosarcoma cases. | 15796962 | 2005 |