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GENE - TERM ANNOTATION REPORT

RGD ID: 38659859
Species: Homo sapiens
RGD Object: Gene
Symbol: LOC106736614
Name: RET 5' regulatory region
Acc ID: DOID:0050430
Term: multiple endocrine neoplasia type 2A
Definition: A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO" "DO", http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15965261 "DO" "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
LOC106736614 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PTC syndromePMID:24033266 PMID:25741868
LOC106736614 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2PMID:28492532
LOC106736614 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2PMID:25741868 PMID:28492532
LOC106736614 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2PMID:14633923 PMID:28492532
LOC106736614 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2PMID:25741868 PMID:28492532 PMID:31159747
LOC106736614 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2PMID:25741868
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