| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | BEFREE | MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). | 22199277 | 2011 |
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|
T | 0.710 | CausalMutation | CLINVAR | Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. | 20979234 | 2011 |
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|
T | 0.710 | CausalMutation | CLINVAR | The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer. | 20664475 | 2010 |
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|
T | 0.710 | CausalMutation | CLINVAR | Mutational spectrum of multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma in taiwan. | 19443294 | 2009 |
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|
T | 0.710 | CausalMutation | CLINVAR | RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest. | 19826964 | 2009 |
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|
T | 0.710 | CausalMutation | CLINVAR | Histopathologic and clinical features of medullary microcarcinoma and C-cell hyperplasia in prophylactic thyroidectomies for medullary carcinoma: a study of 42 cases. | 18976013 | 2008 |
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|
A | 0.710 | GeneticVariation | CLINVAR | The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype. | 9012462 | 1997 |
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|
T | 0.710 | CausalMutation | CLINVAR | Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds. | 8909322 | 1996 |
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|
T | 0.710 | CausalMutation | CLINVAR | Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. | 7915165 | 1994 |
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|
T | 0.710 | CausalMutation | CLINVAR | RET proto-oncogene mutations in French MEN 2A and FMTC families. | 7874109 | 1994 |