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GENE - TERM ANNOTATION REPORT

RGD ID: 1308218
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ess2
Name: ess-2 splicing factor homolog
Acc ID: DOID:0111996
Term: immunodeficiency 51
Definition: A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/27930337/ "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)
Ess2 ISOESS2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
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