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GENE - TERM ANNOTATION REPORT

RGD ID: 628799
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cst6
Name: cystatin E/M
Acc ID: DOID:0061060
Term: immunodeficiency 90
Definition: A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13. (DO)
Definition Source(s): PMID:32350755 "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)
Cst6 ISOCST6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformationsPMID:28492532
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