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GENE - TERM ANNOTATION REPORT

RGD ID: 11832834
Species: Pan paniscus
RGD Object: Gene
Symbol: ADSL
Name: adenylosuccinate lyase
Acc ID: DOID:891
Term: progressive myoclonus epilepsy
Definition: A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.
Definition Source(s): MESH:D020191, http://pn.bmj.com/content/15/3/164.long
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISSRGD:13169169068941ClinVarClinVar Annotator: match by term: Myoclonic epilepsy, progressive

PMID:10888601, PMID:18524658, PMID:20127976, PMID:22180458, PMID:25741868, PMID:28492532
 ISSRGD:13169169068941ClinVarClinVar Annotator: match by term: Myoclonic epilepsy, progressive

PMID:25741868
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.