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GENE - TERM ANNOTATION REPORT

RGD ID: 10998
Species: Mus musculus
RGD Object: Gene
Symbol: Notch1
Name: notch 1
Acc ID: DOID:0081097
Term: Rafiq syndrome
Definition: An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/29908352/ "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)
Notch1 ISONOTCH1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Rafiq syndromePMID:24566669 PMID:28492532 PMID:30982612
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