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GENE - TERM ANNOTATION REPORT

RGD ID: 621568
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Asah1
Name: N-acylsphingosine amidohydrolase 1
Acc ID: DOID:0111527
Term: spinal muscular atrophy with progressive myoclonic epilepsy
Definition: A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22703880 "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)
Asah1 ISOASAH1 (Homo sapiens)7240710OMIM  
Asah1 ISOASAH1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Asah1 ISOASAH1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHYPMID:16199547 PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 PMID:25326635 PMID:25578555 PMID:25741868 PMID:25847462 PMID:26467025 PMID:26526000 PMID:27026573 PMID:27723502 PMID:28251733 PMID:28492532 PMID:28733637 PMID:29169047 PMID:29358611 PMID:30291339 PMID:32449975 PMID:34240417
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