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GENE - TERM ANNOTATION REPORT

28 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 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:28492532


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD 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 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by OMIM:256500
  • Original References(s): PMID:11511292, PMID:24033266


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by OMIM:256500
  • Original References(s): PMID:10835624


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:25741868, PMID:28492532


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:24033266, PMID:25741868


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD 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 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:25741868


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:11841556, PMID:28492532


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:22089833, PMID:25741868, PMID:28492532, PMID:28832562


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:17415575, PMID:27988933, PMID:28492532, PMID:28943498, PMID:30293248


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:11544479, PMID:12752122, PMID:24033266, PMID:25741868


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:21564178, PMID:28492532


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:20107740, PMID:28492532


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:11511292, PMID:16628198, PMID:28492532


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:11511292, PMID:26865388


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:16601670, PMID:24015757, PMID:25710899, PMID:28492532


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:24033266


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:10835624, PMID:26031502, PMID:28492532


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:11511292, PMID:11841556, PMID:28492532


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:25819062, PMID:28492532


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton disease
  • Original References(s): PMID:19683336, PMID:25741868, PMID:28289593, PMID:30311386


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: COMEL-NETHERTON SYNDROME
  • Original References(s): PMID:22089833, PMID:22377713, PMID:25665175, PMID:25741868, PMID:28492532, PMID:30311386


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:19683336


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:28832989


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:16601670, PMID:28492532


  • 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]
  • 3 CRRD objects have been annotated to Netherton syndrome  (DOID:0050474)
  • 8 papers in CRRD have been used to annotate Spink5
  • Curation Notes: ClinVar Annotator: match by term: Netherton syndrome
  • Original References(s): PMID:10835624, PMID:16628198, PMID:22089833, PMID:25917539, PMID:28492532


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.