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GENE - TERM ANNOTATION REPORT

RGD ID: 1308631
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Maml1
Name: mastermind-like transcriptional coactivator 1
Acc ID: DOID:14748
Term: Sotos syndrome
Definition: A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Cerebral_gigantism "DO" "DO", https://research.nhgri.nih.gov/atlas/condition/sotos-syndrome "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)
Maml1 ISOMAML1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Sotos syndromePMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145
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