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GENE - TERM ANNOTATION REPORT

RGD ID: 734432
Species: Mus musculus
RGD Object: Gene
Symbol: Nfe2l2
Name: nuclear factor, erythroid derived 2, like 2
Acc ID: DOID:9009072
Term: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
Definition: A multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. (OMIM)
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)
Nfe2l2 ISONFE2L2 (Homo sapiens)7240710OMIM  
Nfe2l2 ISONFE2L2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Immunodeficiency, developmental delay, and hypohomocysteinemia | ClinVar Annotator: match by term: NFE2L2-related conditionPMID:24130096 PMID:24728327 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29018201 PMID:31107239
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