| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Multiple Endocrine Neoplasia Type 2a
|
0.830 | GeneticVariation | UNIPROT | Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. | 27854360 | 2017 | |||||
Multiple Endocrine Neoplasia Type 2a
|
0.830 | GeneticVariation | UNIPROT | ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. | 25356965 | 2015 | |||||
Multiple Endocrine Neoplasia Type 2a
|
0.830 | GeneticVariation | UNIPROT | A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. | 25394175 | 2015 | |||||
Multiple Endocrine Neoplasia Type 2a
|
0.830 | GeneticVariation | UNIPROT | Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. | 24893135 | 2014 | |||||
Multiple Endocrine Neoplasia Type 2a
|
0.830 | GeneticVariation | UNIPROT | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | 23788249 | 2013 | |||||
Multiple Endocrine Neoplasia Type 2a
|
0.830 | GeneticVariation | UNIPROT | Clinical utility gene card for: multiple endocrine neoplasia type 2. | 21863057 | 2012 | |||||
Multiple Endocrine Neoplasia Type 2a
|
0.830 | GeneticVariation | BEFREE | MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). | 22199277 | 2011 | |||||
Multiple Endocrine Neoplasia Type 2a
|
0.830 | GeneticVariation | UNIPROT | Medullary thyroid cancer: management guidelines of the American Thyroid Association. | 19469690 | 2009 | |||||
Multiple Endocrine Neoplasia Type 2a
|
0.830 | GeneticVariation | UNIPROT | Guidelines for diagnosis and therapy of MEN type 1 and type 2. | 11739416 | 2001 | |||||
Multiple Endocrine Neoplasia Type 2a
|
0.830 | GeneticVariation | UNIPROT | The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. | 8918855 | 1996 | |||||
Multiple Endocrine Neoplasia Type 2a
|
0.830 | GeneticVariation | BEFREE | Two mutations (C609Y and C620R) we identified have previously been associated with multiple endocrine neoplasia type 2A (MEN2A), medullary thyroid carcinoma (MTC) and, on rare occasions, HSCR. | 7633441 | 1995 | |||||
Multiple Endocrine Neoplasia Type 2a
|
0.830 | GeneticVariation | BEFREE | We have identified a mutation in codon 620, 2053 T-->C (Cys620Arg), and two mutations in codon 634 of exon 11 of RET, 2095 T-->C (Cys634Arg) and 2096 G-->A (Cys634Tyr), all three of which were present in both MEN2A and FMTC families. | 7835899 | 1994 | |||||
Multiple Endocrine Neoplasia Type 2a
|
0.830 | CausalMutation | CLINVAR | ||||||||
Multiple Endocrine Neoplasia Type 2a
|
0.830 | CausalMutation | CLINVAR |