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GENE - TERM ANNOTATION REPORT

RGD ID: 2324431
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Prdm16
Name: PR/SET domain 16
Acc ID: DOID:0111934
Term: immunodeficiency 38
Definition: A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/22859821/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/25307056/ "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)
Prdm16 ISOPRDM16 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiencyPMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 PMID:9683594
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