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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Alms1 and metachromatic leukodystrophy 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 ALMS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 49 RGD objects have been annotated to metachromatic leukodystrophy  (DOID:10581)
  • 17 papers in RGD have been used to annotate Alms1
  • Curation Notes: ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
  • Original References(s): PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 PMID:26104972 PMID:27178444 PMID:28492532 PMID:32581362


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