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GENE - TERM ANNOTATION REPORT

RGD ID: 731392
Species: Homo sapiens
RGD Object: Gene
Symbol: ATP7B
Name: ATPase copper transporting beta
Acc ID: DOID:9001793
Term: Generalized Epilepsy
Definition: Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)
Definition Source(s): MESH:D004829
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)
ATP7B IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathyPMID:10790207 PMID:11243728 PMID:12885331 PMID:15811015 PMID:16207219 PMID:16684691 PMID:16791614 PMID:21610751 PMID:22692182 PMID:23551039 PMID:23789284 PMID:25390358 PMID:25741868 PMID:2679931 PMID:26799313 PMID:28492532 PMID:9671269
ATP7B IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathyPMID:10447265 PMID:18414213 PMID:20517649 PMID:22484412 PMID:22677543 PMID:22692182 PMID:23518715 PMID:24517292 PMID:25741868 PMID:25825851 PMID:26764160 PMID:28492532 PMID:30097039 PMID:30232804 PMID:32043565 PMID:32118851 PMID:32154060 PMID:32248359 PMID:33640437 PMID:34620762 PMID:36573661 PMID:9671269
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