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GENE - TERM ANNOTATION REPORT

31 Annotations Found.

An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Boerkoel CF, etal., Nat Genet. 2002 Feb;30(2):215-20. Epub 2002 Jan 22.
  • The annotation has been inferred from sequence orthology with SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Boerkoel CF, etal., Nat Genet. 2002 Feb;30(2):215-20. Epub 2002 Jan 22.
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: DNA:mutations:multiple (human)


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immunoosseous dysplasia
  • Original References(s): PMID:28492532


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immunoosseous dysplasia
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by OMIM:242900
  • Original References(s): PMID:11799392


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by OMIM:242900
  • Original References(s): PMID:11799392 PMID:18805831 PMID:18974355


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by OMIM:242900
  • Original References(s): PMID:15523612


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
  • Original References(s): PMID:11799392 PMID:20301550 PMID:28492532


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
  • Original References(s): PMID:11799392 PMID:18805831 PMID:25741868 PMID:28492532 PMID:30784191


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by OMIM:242900


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
  • Original References(s): PMID:11799392 PMID:26499378 PMID:28492532


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
  • Original References(s): PMID:28492532 PMID:28780565


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:16237566


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by OMIM:242900
  • Original References(s): PMID:25741868


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
  • Original References(s): PMID:11799392 PMID:18805831 PMID:25741868 PMID:28492532 PMID:30026777


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
  • Original References(s): PMID:11799392 PMID:18805831 PMID:18974355 PMID:22998683 PMID:25741868 PMID:28492532 PMID:28796785


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
  • Original References(s): PMID:28492532 PMID:29802247


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
  • Original References(s): PMID:17089404 PMID:21914180 PMID:22998683 PMID:28492532


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
  • Original References(s): PMID:11799392 PMID:18805831 PMID:22998683 PMID:26195148 PMID:28492532


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
  • Original References(s): PMID:17089404 PMID:22998683 PMID:25741868 PMID:28492532


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
  • Original References(s): PMID:28492532 PMID:28796785


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
  • Original References(s): PMID:17089404 PMID:28492532


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immunoosseous dysplasia
  • Original References(s): PMID:11799392 PMID:18805831 PMID:22998683 PMID:25748404 PMID:28492532


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immunoosseous dysplasia
  • Original References(s): PMID:11799392 PMID:28492532


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immunoosseous dysplasia
  • Original References(s): PMID:16840568 PMID:28492532


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immunoosseous dysplasia
  • Original References(s): PMID:11799392 PMID:18805831 PMID:18974355 PMID:19793864 PMID:22998683 PMID:23671665 PMID:26089390 PMID:28492532


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immunoosseous dysplasia
  • Original References(s): PMID:11799392 PMID:20301550 PMID:22998683 PMID:25741868 PMID:28492532


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
  • Original References(s): PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
  • Original References(s): PMID:11799392 PMID:17089404 PMID:18805831 PMID:22998683 PMID:25741868 PMID:26195148 PMID:28492532


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
  • Original References(s): PMID:28492532 PMID:28844315


  • An association has been curated linking Smarcal1 and Schimke immuno-osseous dysplasia 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 SMARCAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Schimke immuno-osseous dysplasia  (DOID:0060490)
  • 7 papers in RGD have been used to annotate Smarcal1
  • Curation Notes: ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
  • Original References(s): PMID:17576681 PMID:28492532 PMID:9536098


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