Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206693
Disease: Medullary carcinoma
Medullary carcinoma
0.390 GeneticVariation disease BEFREE RET/PTC mutations are often discovered both in papillary and in medullary carcinomas, while B-RAF mutation is typical of papillary and anaplastic histologies. 25465739 2015
CUI: C0206693
Disease: Medullary carcinoma
Medullary carcinoma
0.390 Biomarker disease BEFREE Prophylactic surgery for patients carrying a positive RET proto-oncogene proved to be highly effective in curing those likely to experience the development of a medullary carcinoma. 16960675 2007
CUI: C0206693
Disease: Medullary carcinoma
Medullary carcinoma
0.390 GeneticVariation disease LHGDN Children of families with RET cysteine mutations may develop early metastatic medullary carcinoma of the thyroid gland. 17270543 2007
CUI: C0206693
Disease: Medullary carcinoma
Medullary carcinoma
0.390 GeneticVariation disease BEFREE We registered 60 multiple endocrine neoplasia (MEN) 2A patients, 12 familial non-MEN medullary carcinoma (FMTC) patients, and three MEN2B patients with a confirmed RET germline mutation. 15271413 2005
CUI: C0206693
Disease: Medullary carcinoma
Medullary carcinoma
0.390 GeneticVariation disease BEFREE We report a study of a family with C cell hyperplasia and hypercalcitoninemia in which no cases of medullary carcinoma have yet occurred and which lacked an identifiable causative RET mutation. 14557476 2003
CUI: C0206693
Disease: Medullary carcinoma
Medullary carcinoma
0.390 GeneticVariation disease LHGDN Analysis of mutation of protooncogene RET are presented in patients with thyroid medullary carcinoma 12182057 2001
CUI: C0206693
Disease: Medullary carcinoma
Medullary carcinoma
0.390 Biomarker disease BEFREE Ret proto-oncogene has been proven to be the responsible gene not only of MEN2A but also of MEN2B, familial medullary carcinoma and Hirschsprung disease. 7579825 1995
CUI: C0206693
Disease: Medullary carcinoma
Medullary carcinoma
0.390 Biomarker disease CTD_human Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. 7915165 1994
CUI: C0206693
Disease: Medullary carcinoma
Medullary carcinoma
0.390 GeneticVariation disease BEFREE The occurrence of mutations in the RET protooncogene has been investigated in 12 multiple endocrine neoplasia type 2A families and 18 cases of sporadic thyroid medullary carcinomas and pheochromocytomas. 7913936 1994
CUI: C0206693
Disease: Medullary carcinoma
Medullary carcinoma
0.390 AlteredExpression disease BEFREE The ret proto-oncogene is consistently expressed in human pheochromocytomas and thyroid medullary carcinomas. 1701232 1991