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GENE - TERM ANNOTATION REPORT

RGD ID: 708418
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cd40lg
Name: CD40 ligand
Acc ID: DOID:6620
Term: X-linked hyper IgM syndrome
Definition: A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene (300386) on chromosome Xq26. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13529598554872ClinVarClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome

PMID:10484640, PMID:11037300, PMID:16509032, PMID:17307885, PMID:17351759, PMID:18051214, PMID:19575287, PMID:24402618, PMID:25541662, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.