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GENE - TERM ANNOTATION REPORT

RGD ID: 1590342
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Adss1
Name: adenylosuccinate synthase 1
Acc ID: DOID:9006602
Term: Distal Myopathy 5
Definition: An autosomal recessive, slowly progressive muscle disorder characterized by adolescent onset of distal muscle weakness and atrophy predominantly affecting the lower limbs. (OMIM)
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)
Adss1 ISOADSS1 (Homo sapiens)7240710OMIM  
Adss1 ISOADSS1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Adss1 ISOADSS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ADSS1-related condition | ClinVar Annotator: match by term: Myopathy, distal, 5PMID:16199547 PMID:25741868 PMID:26506222 PMID:27868399 PMID:28268051 PMID:28492532 PMID:31680123 PMID:32331917
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