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GENE - TERM ANNOTATION REPORT

30 Annotations Found.

An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz-Jampel syndrome
  • Original References(s): PMID:20080505, PMID:20644199, PMID:24912484, PMID:25741868, PMID:27268795


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz-Jampel Syndrome
  • Original References(s): PMID:25741868, PMID:26467025


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:26467025


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:25741868


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:11038441, PMID:11941538


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:11101850, PMID:17213231


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:11101850


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:24088041, PMID:25504735, PMID:26467025, PMID:26633545


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:26508570


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:11941538


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:26467025, PMID:28492532


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:25504735, PMID:26467025, PMID:28492532


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:28492532


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:24781210, PMID:25504735, PMID:26467025, PMID:28492532


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:25741868, PMID:26467025, PMID:27766954


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:26467025, PMID:28492532, PMID:29901129


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz-Jampel syndrome
  • Original References(s): PMID:30311386


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz-Jampel syndrome
  • Original References(s): PMID:25504735, PMID:28492532


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:25803036, PMID:26467025


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:26467025, PMID:28492532, PMID:29271572


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
  • Original References(s): PMID:25504735, PMID:26467025


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz-Jampel syndrome
  • Original References(s): PMID:25504735


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz-Jampel syndrome
  • Original References(s): PMID:24088041, PMID:25504735, PMID:26633545, PMID:28492532


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz-Jampel syndrome
  • Original References(s): PMID:16927315, PMID:28492532


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz-Jampel syndrome
  • Original References(s): PMID:28242392


  • An association has been curated linking Hspg2 and Schwartz-Jampel syndrome 1 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Schwartz-Jampel syndrome 1  (DOID:0090005)
  • 21 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Schwartz-Jampel syndrome
  • Original References(s): PMID:27521129


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