Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5979
Gene Symbol: RET
RET
1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5979
Gene Symbol: RET
RET
1.000 Biomarker disease CTD_human
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.020 Biomarker disease BEFREE 'Alcohol use' included any current use and was stratified by Alcohol Use Disorders Identification Test-Concise (AUDIT-C) scores: nonhazardous/low (1--3 men/1--2 women), hazardous/medium (4--5 men/3--5 women), hazardous/high (6--7), hazardous/very-high (8--12). 31725431 2020
Entrez Id: 5979
Gene Symbol: RET
RET
1.000 GeneticVariation disease BEFREE Multiple endocrine neoplasia type 2B mutation in human RET oncogene induces medullary thyroid carcinoma in transgenic mice. 10871866 2000
Entrez Id: 796
Gene Symbol: CALCA
CALCA
0.010 GeneticVariation disease BEFREE Multiple endocrine neoplasia type 2B (MEN 2B) is a familial cancer syndrome, in which the cardinal feature is medullary thyroid carcinoma (MTC), a malignant tumor arising from the calcitonin producing thyroid C-cells. 10871866 2000
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 GeneticVariation disease BEFREE Multiple endocrine neoplasia type 2B (MEN 2B) is caused by the mutation of a conserved methionine to a threonine in the catalytic domain of the RET kinase. 8621456 1996
Entrez Id: 11061
Gene Symbol: CNMD
CNMD
0.010 AlteredExpression disease BEFREE Chondromodulin-1 mRNA and protein expression was localized to the malignant C cells, and its high expression was directly associated with the presence of skeletal abnormalities in MEN 2B patients. 15173001 2004
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: 6654
Gene Symbol: SOS1
SOS1
0.010 GeneticVariation disease BEFREE SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. 26708403 2016
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 GeneticVariation disease UNIPROT A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. 7906866 1994
Entrez Id: 5979
Gene Symbol: RET
RET
1.000 CausalMutation disease CLINVAR A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. 7906866 1994
Entrez Id: 5979
Gene Symbol: RET
RET
1.000 GeneticVariation disease BEFREE A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. 7906866 1994
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 GeneticVariation disease BEFREE A single mutation at codon 918 in the tyrosine kinase domain of the RET receptor has been associated with the MEN-2B phenotype. 9167949 1997
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
Entrez Id: 5979
Gene Symbol: RET
RET
1.000 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Entrez Id: 5979
Gene Symbol: RET
RET
1.000 CausalMutation disease CLINVAR Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. 7824936 1995
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 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 Approximately 80% of sporadic MTC's had at least one subpopulation with the RET codon 918 mutation, which is a mutation previously detected in sporadic MTC as a somatic mutation and in multiple endocrine neoplasia type 2B as a germline mutation. 8616867 1996
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 Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma. 10445857 1999