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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Psap and Metachromatic Leukodystrophy due to Saposin B Deficiency in Mus musculus.        

  • 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 PSAP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Metachromatic Leukodystrophy due to Saposin B Deficiency  (DOID:9004615)
  • 12 papers in RGD have been used to annotate Psap


    • An association has been curated linking Psap and Metachromatic Leukodystrophy due to Saposin B Deficiency in Mus musculus.        

  • 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 PSAP (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to Metachromatic Leukodystrophy due to Saposin B Deficiency  (DOID:9004615)
  • 12 papers in RGD have been used to annotate Psap
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Psap and Metachromatic Leukodystrophy due to Saposin B Deficiency in Mus musculus.        

  • 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 PSAP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Metachromatic Leukodystrophy due to Saposin B Deficiency  (DOID:9004615)
  • 12 papers in RGD have been used to annotate Psap
  • Curation Notes: ClinVar Annotator: match by term: Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency
  • Original References(s): PMID:10196694 PMID:10682309 PMID:11309366 PMID:1371116 PMID:15773042 PMID:16199547 PMID:17561962 PMID:17576681 PMID:17616409 PMID:18693274 PMID:19267410 PMID:19955343 PMID:2019586 PMID:20484222 PMID:24033266 PMID:25741868 PMID:25741914 PMID:26462614 PMID:26822237 PMID:28457694 PMID:28492532 PMID:30632081 PMID:30976395 PMID:31319425 PMID:32180488 PMID:33219486 PMID:35456468 PMID:8554069 PMID:9536098


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