RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271844
Disease: Parathyroid hyperplasia
Parathyroid hyperplasia
0.120 GeneticVariation disease BEFREE Germline mutations in RET are responsible for multiple endocrine neoplasia type 2 (MEN2), an autosomal dominantly inherited cancer syndrome that is characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid hyperplasia/adenoma. 16707008 2006
CUI: C0271844
Disease: Parathyroid hyperplasia
Parathyroid hyperplasia
0.120 GeneticVariation disease BEFREE These data suggest that RET gene mutation may not be involved in the development of sporadic parathyroid tumors and hyperplasia secondary to uremia and that MEN1 gene mutation may not be or is rarely associated with development of parathyroid hyperplasia in MEN2A patients. 10915003 2000
CUI: C0271844
Disease: Parathyroid hyperplasia
Parathyroid hyperplasia
0.120 Biomarker disease HPO