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GENE - TERM ANNOTATION REPORT

RGD ID: 18743719
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: PIK3CD
Name: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
Acc ID: DOID:0111936
Term: immunodeficiency 14
Definition: A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/24165795/ "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)
PIK3CD ISOPIK3CD (Homo sapiens)7240710OMIM  
PIK3CD ISOPIK3CD (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Activated PI3K-delta syndrome | ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Immunodeficiency 14 | ClinVar Annotator: match by term: Immunodeficiency 14b, autosomal recessive | ClinVar Annotator: match by term: p110-DELTA-ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY, AND IMMUNODEFICIENCYPMID:16199547 PMID:16984281 PMID:17576681 PMID:24136356 PMID:24165795 PMID:24610295 PMID:25352054 PMID:25741868 PMID:26437962 PMID:26732860 PMID:27426521 PMID:27555459 PMID:27577878 PMID:27697496 PMID:28104464 PMID:28167755 PMID:28190860 PMID:28414062 PMID:28428270 PMID:28492532 PMID:29330011 PMID:29921932 PMID:30138677 PMID:30499059 PMID:30639166 PMID:31031754 PMID:31045771 PMID:31537641 PMID:32084423 PMID:32581362 PMID:32681977 PMID:32888943 PMID:33225392 PMID:33995405 PMID:34039074 PMID:34115277 PMID:34692603 PMID:35189965 PMID:35753512 PMID:36703223 PMID:9536098
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