Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Genetic analysis and clinical investigation of a pedigree with multiple endocrine neoplasia type 2A: A case report. 27698838 2016
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. 27539324 2016
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Diversity of mutations in the RET proto-oncogene and its oncogenic mechanism in medullary thyroid cancer. 26678667 2016
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma. 26230854 2015
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer? 25440022 2015
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D. 26356818 2015
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation. 25515555 2015
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Multiple endocrine neoplasia type 2A in an Iranian family: clinical and genetic studies. 24784869 2014
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Multiple endocrine neoplasia type 2A: case report. 24331334 2014
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Rare manifestation of multiple endocrine neoplasia type 2A & cutaneous lichen amyloidosis in a family with RET gene mutation. 25027091 2014
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Characterization of wild-type and mutated RET proto- oncogene associated with familial medullary thyroid cancer. 24716929 2014
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Medullary thyroid cancer secreting carbohydrate antigen 19-9 (Ca 19-9): a fatal case report. 23861463 2013
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Genetic analysis of a Chinese Han family with multiple endocrine neoplasia type 2A. 23617071 2013
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer. 21810974 2011
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer. 21810974 2011
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma. 21765987 2011
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Primary hyperparathyroidism as the first clinical manifestation of multiple endocrine neoplasia type 2A in a 5-year-old child. 21449769 2011
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma. 21765987 2011
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 GeneticVariation BEFREE Three different known RET germline mutations in exon 11 (codon 634), p.Cys634Arg (c1900 T-->C) (de novo case), p.Cys634Phe (c1901 G-->T), p.Cys634Trp (c1902 C-->G), were detected in three individuals with MEN2 phenotype. 19841562 2010
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Genetics of pheochromocytoma and paraganglioma in Spanish patients. 19258401 2009
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. 19825962 2009
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Multiple endocrine neoplasia type 2a and germ line C634G RET mutation diagnosed in an 80-year-old patient. 19201392 2009
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
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
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Familial prevalence and age of RET germline mutations: implications for screening. 18062802 2008
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Familial prevalence and age of RET germline mutations: implications for screening. 18062802 2008