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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking B3galt6 and spondyloepimetaphyseal dysplasia with joint laxity type 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 B3GALT6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to spondyloepimetaphyseal dysplasia with joint laxity type 1  (DOID:0112198)
  • 7 papers in RGD have been used to annotate B3galt6
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
  • Original References(s): PMID:23664117


  • An association has been curated linking B3galt6 and spondyloepimetaphyseal dysplasia with joint laxity type 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 B3GALT6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to spondyloepimetaphyseal dysplasia with joint laxity type 1  (DOID:0112198)
  • 7 papers in RGD have been used to annotate B3galt6
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
  • Original References(s): PMID:28492532


  • An association has been curated linking B3galt6 and spondyloepimetaphyseal dysplasia with joint laxity type 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 B3GALT6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to spondyloepimetaphyseal dysplasia with joint laxity type 1  (DOID:0112198)
  • 7 papers in RGD have been used to annotate B3galt6
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
  • Original References(s): PMID:27023906 PMID:29620724


  • An association has been curated linking B3galt6 and spondyloepimetaphyseal dysplasia with joint laxity type 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 B3GALT6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to spondyloepimetaphyseal dysplasia with joint laxity type 1  (DOID:0112198)
  • 7 papers in RGD have been used to annotate B3galt6


  • An association has been curated linking B3galt6 and spondyloepimetaphyseal dysplasia with joint laxity type 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 B3GALT6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to spondyloepimetaphyseal dysplasia with joint laxity type 1  (DOID:0112198)
  • 7 papers in RGD have been used to annotate B3galt6
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
  • Original References(s): PMID:25741868


  • An association has been curated linking B3galt6 and spondyloepimetaphyseal dysplasia with joint laxity type 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 B3GALT6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to spondyloepimetaphyseal dysplasia with joint laxity type 1  (DOID:0112198)
  • 7 papers in RGD have been used to annotate B3galt6
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking B3galt6 and spondyloepimetaphyseal dysplasia with joint laxity type 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 B3GALT6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to spondyloepimetaphyseal dysplasia with joint laxity type 1  (DOID:0112198)
  • 7 papers in RGD have been used to annotate B3galt6
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
  • Original References(s): PMID:24766538 PMID:28492532


  • An association has been curated linking B3galt6 and spondyloepimetaphyseal dysplasia with joint laxity type 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 B3GALT6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to spondyloepimetaphyseal dysplasia with joint laxity type 1  (DOID:0112198)
  • 7 papers in RGD have been used to annotate B3galt6
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures
  • Original References(s): PMID:23664118


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