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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking PSAP and combined saposin deficiency in Sus scrofa.        

  • 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]
  • 6 RGD objects have been annotated to combined saposin deficiency  (DOID:0111330)
  • 0 papers in RGD have been used to annotate PSAP
  • Curation Notes: ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
  • Original References(s): PMID:10196694 PMID:10682309 PMID:11309366 PMID:1350885 PMID:1371116 PMID:15773042 PMID:16199547 PMID:17561962 PMID:17576681 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:19267410 PMID:19955343 PMID:2019586 PMID:20484222 PMID:2302219 PMID:2320574 PMID:24033266 PMID:24416283 PMID:24925315 PMID:25640679 PMID:25741868 PMID:25991456 PMID:26462614 PMID:26822237 PMID:26831127 PMID:28457694 PMID:28492532 PMID:30037697 PMID:30632081 PMID:31319425 PMID:32180488 PMID:33402667 PMID:8554069 PMID:9536098


    • An association has been curated linking PSAP and combined saposin deficiency in Sus scrofa.        

  • 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]
  • 6 RGD objects have been annotated to combined saposin deficiency  (DOID:0111330)
  • 0 papers in RGD have been used to annotate PSAP


    • An association has been curated linking PSAP and combined saposin deficiency in Sus scrofa.        

  • 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]
  • 6 RGD objects have been annotated to combined saposin deficiency  (DOID:0111330)
  • 0 papers in RGD have been used to annotate PSAP
  • Curation Notes: ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
  • Original References(s): PMID:10196694 PMID:10682309 PMID:11309366 PMID:1350885 PMID:1371116 PMID:15773042 PMID:16199547 PMID:17561962 PMID:17576681 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:19267410 PMID:19955343 PMID:2019586 PMID:20484222 PMID:2302219 PMID:2320574 PMID:23794683 PMID:24033266 PMID:24416283 PMID:24925315 PMID:25640679 PMID:25741868 PMID:25741914 PMID:25991456 PMID:26462614 PMID:26822237 PMID:26831127 PMID:28457694 PMID:28492532 PMID:30037697 PMID:30632081 PMID:30976395 PMID:31319425 PMID:32180488 PMID:33219486 PMID:33402667 PMID:35456468 PMID:8554069 PMID:9536098


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