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GENE - TERM ANNOTATION REPORT

RGD ID: 1564804
Species: Rattus norvegicus
RGD Object: Gene
Symbol: C5h1orf50
Name: similar to human chromosome 1 open reading frame 50
Acc ID: DOID:0070561
Term: glucose transporter type 1 deficiency syndrome 1
Definition: A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/books/NBK1430/ "DO" "DO", PMID:36315575 "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)
C5h1orf50 ISOC1orf50 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessivePMID:20382060 PMID:21832227 PMID:26193382 PMID:28492532
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