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GENE - TERM ANNOTATION REPORT

RGD ID: 1564560
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ddx6
Name: DEAD-box helicase 6
Acc ID: DOID:0111972
Term: immunodeficiency 19
Definition: A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3. (DO)
Definition Source(s): PMID:14602880 "DO" "DO", PMID:21883749 "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)
Ddx6 ISODDX6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Immunodeficiency 19PMID:14602880 PMID:15546002 PMID:1635567 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 PMID:8490660
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