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GENE - TERM ANNOTATION REPORT

RGD ID: 71099
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Adar
Name: adenosine deaminase, RNA-specific
Acc ID: DOID:0050629
Term: Aicardi-Goutieres syndrome
Definition: A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. (DO)
Definition Source(s): http://omim.org/entry/225750 "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1475/ "DO" "DO", https://agsaa.org/about-ags "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)
Adar ISOADAR (Homo sapiens)11069491RGDDNA:mutations:exons: 
Adar ISOADAR (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:23001123
Adar ISOADAR (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Aicardi Goutieres syndromePMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25456137 PMID:25604658 PMID:25741868 PMID:26629815 PMID:28139822 PMID:28492532 PMID:28561207 PMID:29221912 PMID:29603717 PMID:31772029 PMID:33289110 PMID:33307271 PMID:33723056 PMID:34343497 PMID:35859177 PMID:9889202
Adar ISSAdar (Mus musculus)13592920MouseDOOMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846 
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