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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Exoc6b and spondyloepimetaphyseal dysplasia with joint laxity type 3 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 EXOC6B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to spondyloepimetaphyseal dysplasia with joint laxity type 3  (DOID:0112200)
  • 4 papers in RGD have been used to annotate Exoc6b


  • An association has been curated linking Exoc6b and spondyloepimetaphyseal dysplasia with joint laxity type 3 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 EXOC6B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to spondyloepimetaphyseal dysplasia with joint laxity type 3  (DOID:0112200)
  • 4 papers in RGD have been used to annotate Exoc6b
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3
  • Original References(s): PMID:25741868 PMID:26669664 PMID:30284759


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