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GENE - TERM ANNOTATION REPORT

RGD ID: 620878
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Phldb1
Name: pleckstrin homology-like domain, family B, member 1
Acc ID: DOID:0060017
Term: CD3epsilon deficiency
Definition: A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16264327 "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)
Phldb1 ISOPHLDB1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CD3epsilon deficiencyPMID:14602880 PMID:15546002 PMID:1635567 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 PMID:8490660
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