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GENE - TERM ANNOTATION REPORT

RGD ID: 1322188
Species: Mus musculus
RGD Object: Gene
Symbol: Mpzl3
Name: myelin protein zero-like 3
Acc ID: DOID:0111971
Term: immunodeficiency 18
Definition: A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/15546002/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/8490660/ "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)
Mpzl3 ISOMPZL3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Immunodeficiency 18PMID:14602880 PMID:15546002 PMID:1635567 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 PMID:8490660
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