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GENE - TERM ANNOTATION REPORT

RGD ID: 1306144
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Eif4g1
Name: eukaryotic translation initiation factor 4 gamma 1
Acc ID: DOID:0080556
Term: congenital disorder of glycosylation Id
Definition: A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/28108845 "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)
Eif4g1 ISOEIF4G1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital disorder of glycosylation type 1DPMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532
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