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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Spr and sepiapterin reductase 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 SPR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to sepiapterin reductase deficiency  (DOID:0111168)
  • 11 papers in RGD have been used to annotate Spr


    • An association has been curated linking Spr and sepiapterin reductase 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 SPR (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to sepiapterin reductase deficiency  (DOID:0111168)
  • 11 papers in RGD have been used to annotate Spr
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:25526675


    • An association has been curated linking Spr and sepiapterin reductase 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 SPR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to sepiapterin reductase deficiency  (DOID:0111168)
  • 11 papers in RGD have been used to annotate Spr
  • Curation Notes: ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency | ClinVar Annotator: match by term: SPR deficiency
  • Original References(s): PMID:10384371 PMID:11443547 PMID:15241655 PMID:16049044 PMID:16650784 PMID:16752391 PMID:16917893 PMID:17159114 PMID:18414213 PMID:18502672 PMID:19130291 PMID:19491146 PMID:21431957 PMID:21677200 PMID:22291068 PMID:22522443 PMID:23430877 PMID:24212389 PMID:25741868 PMID:25763508 PMID:28492532 PMID:29116116 PMID:29147684 PMID:31041399 PMID:33098801 PMID:33822819 PMID:34324503 PMID:35872528 PMID:35926683 PMID:9700606


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