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GENE - TERM ANNOTATION REPORT

RGD ID: 18936194
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Rnaseh2a
Name: ribonuclease H2 subunit A
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)
Rnaseh2a ISORNASEH2A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Aicardi Goutieres syndromePMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25274781 PMID:25604658 PMID:25741868 PMID:26182405 PMID:27943079 PMID:28492532 PMID:31130681
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