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GENE - TERM ANNOTATION REPORT

RGD ID: 621693
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Aspa
Name: aspartoacylase
Acc ID: DOID:3613
Term: Canavan disease
Definition: A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/2512436/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/3354621/ "DO" "DO", MESH:D017825
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)
Aspa IAGP 1599298RGD  
AspasusceptibilityISOASPA (Homo sapiens)1599291RGD  
Aspa ISOASPA (Homo sapiens)7240710OMIM  
Aspa ISOASPA (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:17027983 PMID:17194761
Aspa ISOASPA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Canavan Disease, Familial Form | ClinVar Annotator: match by term: Mild Canavan disease | ClinVar Annotator: match by term: Spongy degeneration of central nervous systemPMID:10407784 PMID:10564886 PMID:10701101 PMID:10704428 PMID:10724099 PMID:10909858 PMID:11238686 PMID:12205125 PMID:12638939 PMID:14567959 PMID:15243987 PMID:16138249 PMID:16199547 PMID:16217711 PMID:16437572 PMID:16802711 PMID:16854607 PMID:17027983 PMID:17194761 PMID:17391648 PMID:17576681 PMID:17999961 PMID:18070137 PMID:18280251 PMID:18978679 PMID:19685155 PMID:19932039 PMID:20129749 PMID:20301412 PMID:21228398 PMID:21520333 PMID:21907889 PMID:22019069 PMID:22219087 PMID:22468686 PMID:22611636 PMID:22750302 PMID:22850825 PMID:22878930 PMID:23233226 PMID:23253610 PMID:23971085 PMID:24033266 PMID:24036223 PMID:25003821 PMID:25107638 PMID:25497124 PMID:25668701 PMID:25741868 PMID:26586007 PMID:26992473 PMID:27102039 PMID:27457812 PMID:27531131 PMID:27927234 PMID:28101991 PMID:28492532 PMID:29453510 PMID:31839386 PMID:32403196 PMID:33547378 PMID:34011350 PMID:34316023 PMID:34446995 PMID:7599639 PMID:7668285 PMID:8023850 PMID:8037206 PMID:8088831 PMID:8252036 PMID:8659549 PMID:9452117 PMID:9536098 PMID:9537412 PMID:9887384
Aspa ISSAspa (Mus musculus)13592920MouseDOOMIM:271900 
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