| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.040 | GeneticVariation | BEFREE | These data show a low frequency of hyperparathyroidism in our cases and provide further evidence that individuals with C634R as well as with C634Y mutations of the RET proto-oncogene could be at risk for parathyroid disease. | 9820617 | 1998 |
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|
0.040 | GeneticVariation | BEFREE | The frequency of mutations at codon 634 was higher in patients with MEN 2A than with FMTC and a 634 Cys-->Arg mutation was associated with parathyroid disease in three patients. | 8625130 | 1995 |
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|
0.040 | GeneticVariation | BEFREE | Furthermore, our results are in accordance with the observation that MEN 2A patients with Cys 634-->Arg (germline) mutations have a higher risk of developing parathyroid disease than those with other mutations at codon 634. | 7495285 | 1995 |
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|
0.040 | GeneticVariation | BEFREE | MEN 2A patients with a Cys634 to Arg substitution had a greater risk of developing parathyroid disease than those with other codon 634 mutations. | 7907913 | 1994 |
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|
0.010 | GeneticVariation | BEFREE | This is the first study examining the function of the CASR signal sequence and reveals that both L11S and L13P mutants are markedly impaired with respect to cotranslational processing, accounting for the observed parathyroid dysfunction. | 15879434 | 2005 |
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|
0.010 | GeneticVariation | BEFREE | This is the first study examining the function of the CASR signal sequence and reveals that both L11S and L13P mutants are markedly impaired with respect to cotranslational processing, accounting for the observed parathyroid dysfunction. | 15879434 | 2005 |
||||
|
0.010 | GeneticVariation | BEFREE | These data show a low frequency of hyperparathyroidism in our cases and provide further evidence that individuals with C634R as well as with C634Y mutations of the RET proto-oncogene could be at risk for parathyroid disease. | 9820617 | 1998 |