Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 CausalMutation disease CLINVAR Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B. 19240193 2009
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 CausalMutation disease CLINVAR Mutational spectrum of multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma in taiwan. 19443294 2009
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 CausalMutation disease CLINVAR RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest. 19826964 2009
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 GeneticVariation disease BEFREE We compared two oncogenic RET mutants, associated with MEN 2A (2ARET) or MEN 2B (2BRET) disease subtypes, that are predicted to have distinct downstream target genes. 19226610 2009
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 GeneticVariation disease BEFREE Y806C is a natural RET mutation identified in a patient affected by multiple endocrine neoplasia type 2B. 19029224 2009
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 Biomarker disease BEFREE Using a proteomic-multiplexed analysis of the phosphotyrosine signaling together with antibody-based validation techniques, we identified several candidate molecules for RET (rearranged during transfection) tyrosine kinase receptor carrying mutations responsible for the multiple endocrine neoplasia type 2A and 2B (MEN2A and MEN2B) syndromes in two human medullary thyroid carcinoma (MTC) cell lines, TT and MZ-CRC-1, which express the RET-MEN2A and RET-MEN2B oncoproteins, respectively. 18756447 2009
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 CausalMutation disease 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
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 GeneticVariation disease LHGDN Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases. 17576593 2008
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 GeneticVariation disease BEFREE An assay using unlabeled probes and the LightCycler 480 instrument was developed to genotype these two common MEN2B RET mutations. 18258924 2008
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 GeneticVariation disease BEFREE More than 90% of M918T carriers with multiple endocrine neoplasia type 2B (MEN 2B) harbor de novo mutations in the REarranged during Transfection (RET) protooncogene. 19041016 2008
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 PosttranslationalModification disease LHGDN MEN 2B (multiple endocrine neoplasia type 2B) is an autosomal dominant cancer syndrome caused by an oncogenic form of the receptor tyrosine kinase REarranged during transfection (RET). 17599050 2007
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 CausalMutation disease CLINVAR Medullary thyroid carcinoma in a 2-month-old male with multiple endocrine neoplasia 2B and symptoms of pseudo-Hirschsprung disease: a case report. 17848262 2007
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 GeneticVariation disease BEFREE Although there were no syndromic features or a positive family history, mutation analysis of the RET proto-oncogene showed a de novo germline Met918Thr mutation in both patients, confirming the diagnosis of multiple endocrine neoplasia type 2B (MEN 2B). 16808642 2006
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 AlteredExpression disease BEFREE RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B. 17047083 2006
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 GeneticVariation disease CLINVAR RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor. 15753368 2005
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 GeneticVariation disease BEFREE In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of STAT3 and elevated expression of CXCR4 was detected in metastatic thyroid C-cell carcinoma in the liver. 15485908 2004
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 CausalMutation disease CLINVAR External ophthalmic findings in multiple endocrine neoplasia type 2B. 15281979 2004
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 GeneticVariation disease BEFREE Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918. 11788682 2002
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 GeneticVariation disease CLINVAR A novel germline point mutation, c.2304 G-->T, in codon 768 of the RET proto-oncogene in a patient with medullary thyroid carcinoma. 12116277 2002
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 Biomarker disease BEFREE There are three subtypes, namely, MEN2A (multiple endocrine neoplasia type 2A), MEN2B (multiple endocrine neoplasia type 2B), and familial medullary thyroid carcinoma. 11839664 2002
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 GeneticVariation disease CLINVAR Prospective trial of unilateral surgery for nonhereditary medullary thyroid carcinoma in patients without germline RET mutations. 12016484 2002
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 GeneticVariation disease CLINVAR Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. 11230481 2001
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 Biomarker disease BEFREE Molecular genetic studies detected in all 3 patients a mutation at codon 918 of the RET proto-oncogene known to be present in 95% of the cases of MEN type IIb. 11388386 2001
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 GeneticVariation disease BEFREE A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations. 10679286 2000
Entrez Id: 5979
Gene Symbol: RET
RET 		1.000 CausalMutation disease CLINVAR A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations. 10679286 2000