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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Spink5 and Netherton syndrome 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 SPINK5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in RGD have been used to annotate Spink5


    • An association has been curated linking Spink5 and Netherton syndrome 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 SPINK5 (Homo sapiens) [(EXP) inferred from experiment]
  • 6 RGD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in RGD have been used to annotate Spink5
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:20657595


    • An association has been curated linking Spink5 and Netherton syndrome in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Spink5 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in RGD have been used to annotate Spink5
  • Curation Notes: OMIM:256500


    • An association has been curated linking Spink5 and Netherton syndrome 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 SPINK5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in RGD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: COMEL-NETHERTON SYNDROME | ClinVar Annotator: match by term: Ichthyosis linearis circumflexa | ClinVar Annotator: match by term: Netherton disease | ClinVar Annotator: match by term: Netherton syndrome | ClinVar Annotator: match by term: SPINK5-related condition
  • Original References(s): PMID:10835624 PMID:11511292 PMID:11544479 PMID:11841556 PMID:12752122 PMID:12923596 PMID:15304086 PMID:15656819 PMID:16199547 PMID:16601670 PMID:16628198 PMID:17415575 PMID:17576681 PMID:17989726 PMID:18577046 PMID:19683336 PMID:19840201 PMID:20107740 PMID:21255986 PMID:21564178 PMID:22089833 PMID:22377713 PMID:23331056 PMID:24015757 PMID:24033266 PMID:25640679 PMID:25665175 PMID:25710899 PMID:25741868 PMID:25819062 PMID:26031502 PMID:26193622 PMID:26229701 PMID:26865388 PMID:27905021 PMID:27988933 PMID:28289593 PMID:28492532 PMID:28832562 PMID:28832989 PMID:28943498 PMID:29444371 PMID:29926005 PMID:30293248 PMID:30477583 PMID:31288584 PMID:31795557 PMID:31953843 PMID:32441320 PMID:32459284 PMID:32573669 PMID:32709676 PMID:32767583 PMID:33452875 PMID:34138484 PMID:34604321 PMID:36165187 PMID:36169939 PMID:9536098


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