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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Asah1 and spinal muscular atrophy with progressive myoclonic epilepsy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with ASAH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to spinal muscular atrophy with progressive myoclonic epilepsy  (DOID:0111527)
  • 15 papers in RGD have been used to annotate Asah1


    • An association has been curated linking Asah1 and spinal muscular atrophy with progressive myoclonic epilepsy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with ASAH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to spinal muscular atrophy with progressive myoclonic epilepsy  (DOID:0111527)
  • 15 papers in RGD have been used to annotate Asah1
  • Curation Notes: ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY
  • Original References(s): PMID: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


    • An association has been curated linking Asah1 and spinal muscular atrophy with progressive myoclonic epilepsy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with ASAH1 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to spinal muscular atrophy with progressive myoclonic epilepsy  (DOID:0111527)
  • 15 papers in RGD have been used to annotate Asah1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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