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GENE - TERM ANNOTATION REPORT

RGD ID: 18934249
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Aicda
Name: activation induced cytidine deaminase
Acc ID: DOID:2959
Term: hyperimmunoglobulin syndrome
Definition: A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others. (DO)
Definition Source(s): https://ncithesaurus-stage.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27579 "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)
Aicda ISOAICDA (Homo sapiens)9068941RGDDNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human)PMID:17553565 REF_RGD_ID:11039457
Aicda ISOAICDA (Homo sapiens)9068941RGDDNA:splice-site mutation:intron:IVS2+1G>T (human)PMID:15372234 REF_RGD_ID:11039485
AicdaonsetISOAICDA (Homo sapiens)9068941RGDDNA:missense mutations, nonsense mutation:exon:p.W84X, p.R112C, p.R112H (human)PMID:11112359 REF_RGD_ID:11039483
AicdasusceptibilityISOAICDA (Homo sapiens)9068941RGD PMID:11007475 REF_RGD_ID:1598906
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