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GENE - TERM ANNOTATION REPORT

RGD ID: 1560198
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Eif1ax
Name: eukaryotic translation initiation factor 1A, X-linked
Acc ID: DOID:0111042
Term: glycogen storage disease IXA
Definition: A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/2303074 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7711737 "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)
Eif1ax ISOEIF1AX (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Glycogen storage disease IXa1PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
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