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GENE - TERM ANNOTATION REPORT

RGD ID: 1597440
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cenatac
Name: centrosomal AT-AC splicing factor
Acc ID: DOID:0111973
Term: immunodeficiency 17
Definition: A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/1635567/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/17277165/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/8325321/ "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)
Cenatac ISOCENATAC (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficientPMID:14602880 PMID:15546002 PMID:1635567 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 PMID:8490660
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