| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Familial medullary thyroid carcinoma
|
0.830 | GeneticVariation | BEFREE | The age-related progression of MTC across histopathological groups (normal thyroid/C-cell hyperplasia; node-negative MTC; node-positive MTC) was statistically significant for 13 unique RET mutations (p.Cys611Phe/c.1832G > T; p.Cys611Tyr; p.Cys618Ser/c.1852T > A; p.Cys620Arg; p.Cys634Arg; p.Cys634Phe; p.Cys634Ser; p.Cys634Tyr; p.Glu768Asp; p.Leu790Phe/c.2370G > T; p.Val804Met; p.Ser891Ala; p.Met918Thr), whereas two unique RET mutations (p.Cys618Phe; p.Cys634Gly) trended toward statistical significance. | 29656518 | 2018 | |||||
Familial medullary thyroid carcinoma
|
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 | |||||
Familial medullary thyroid carcinoma
|
0.830 | GeneticVariation | UNIPROT | ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. | 25356965 | 2015 | |||||
Familial medullary thyroid carcinoma
|
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 | |||||
Familial medullary thyroid carcinoma
|
0.830 | GeneticVariation | UNIPROT | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | 23788249 | 2013 | |||||
Familial medullary thyroid carcinoma
|
0.830 | GeneticVariation | UNIPROT | Clinical utility gene card for: multiple endocrine neoplasia type 2. | 21863057 | 2012 | |||||
Familial medullary thyroid carcinoma
|
0.830 | GeneticVariation | UNIPROT | Medullary thyroid cancer: management guidelines of the American Thyroid Association. | 19469690 | 2009 | |||||
Familial medullary thyroid carcinoma
|
0.830 | GeneticVariation | BEFREE | The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma -- only phenotype with incomplete penetrance: implications for screening and management of carrier status. | 16736292 | 2006 | |||||
Familial medullary thyroid carcinoma
|
0.830 | GeneticVariation | UNIPROT | Guidelines for diagnosis and therapy of MEN type 1 and type 2. | 11739416 | 2001 | |||||
Familial medullary thyroid carcinoma
|
0.830 | GeneticVariation | BEFREE | Interestingly, the level of transforming activity correlated with clinical phenotypes; high group Ret with the A883F or M918T mutation and low group Ret with the E768D, V804L or S891A mutation were associated with the development of MEN 2B and FMTC, respectively. | 10445857 | 1999 | |||||
Familial medullary thyroid carcinoma
|
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 | |||||
Familial medullary thyroid carcinoma
|
0.830 | CausalMutation | CLINVAR |