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GENE - TERM ANNOTATION REPORT

RGD ID: 621306
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Snrpn
Name: small nuclear ribonucleoprotein polypeptide N
Acc ID: DOID:1932
Term: Angelman syndrome
Definition: A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Angelman_syndrome "DO" "DO", https://ghr.nlm.nih.gov/condition/angelman-syndrome#genes "DO" "DO", https://research.nhgri.nih.gov/atlas/condition/angelman-syndrome "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)
Snrpn ISOSNRPN (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Snrpn ISOSNRPN (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Angelman syndromePMID:12210318 PMID:18821858 PMID:22190369 PMID:23495136 PMID:24088041 PMID:25099823 PMID:25212744 PMID:25741868 PMID:25884337 PMID:26633545 PMID:28492532 PMID:38177409
Snrpn ISSSnrpn (Mus musculus)13592920MouseDOOMIM:105830 
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