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GENE - TERM ANNOTATION REPORT

RGD ID: 18610065
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: MAGEL2
Name: MAGE family member L2
Acc ID: DOID:11983
Term: Prader-Willi syndrome
Definition: A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/prader-willi-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1330/ "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)
MAGEL2 ISOMAGEL2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Prader-Willi syndromePMID:25741868 PMID:27195816 PMID:28281571 PMID:28492532 PMID:28631899
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