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GENE - TERM ANNOTATION REPORT

RGD ID: 1587326
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Polr2a
Name: RNA polymerase II subunit A
Acc ID: DOID:9000637
Term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
Definition: A disease characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Brain imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles.
Definition Source(s): OMIM:618603
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)
Polr2a ISOPOLR2A (Homo sapiens)7240710OMIM  
Polr2a ISOPOLR2A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | ClinVar Annotator: match by term: POLR2A-related conditionPMID:24033266 PMID:25741868 PMID:28492532 PMID:31353023 PMID:33665635
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