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GENE - TERM ANNOTATION REPORT

RGD ID: 8725421
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Dop1a
Name: DOP1 leucine zipper like protein A
Acc ID: DOID:0111953
Term: immunodeficiency 23
Definition: A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/14981714/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/24589341/ "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)
Dop1a ISODOP1A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23PMID:14981714 PMID:17548465 PMID:17576681 PMID:24033266 PMID:24589341 PMID:24698316 PMID:24931394 PMID:25741868 PMID:28492532 PMID:33098103 PMID:35040011 PMID:9536098
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