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GENE - TERM ANNOTATION REPORT

RGD ID: 12606277
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Pygm
Name: glycogen phosphorylase, muscle associated
Acc ID: DOID:10017
Term: multiple endocrine neoplasia type 1
Definition: A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_1 "DO" "DO", http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO" "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000398.htm "DO" "DO", PMID:25509899 "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)
Pygm ISOPYGM (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1PMID:17065424 PMID:215689 PMID:23321498 PMID:28492532
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