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GENE - TERM ANNOTATION REPORT

RGD ID: 1311355
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Phpt1
Name: phosphohistidine phosphatase 1
Acc ID: DOID:0060686
Term: autosomal dominant nocturnal frontal lobe epilepsy 5
Definition: An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23086396 "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)
Phpt1 ISOPHPT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5PMID:28492532
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