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GENE - TERM ANNOTATION REPORT

RGD ID: 708466
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pnpla7
Name: patatin-like phospholipase domain containing 7
Acc ID: DOID:0080439
Term: developmental and epileptic encephalopathy 14
Definition: A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development 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/23086397 "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)
Pnpla7 ISOPNPLA7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532
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