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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Kif22 and spondyloepimetaphyseal dysplasia with joint laxity type 2 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 KIF22 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to spondyloepimetaphyseal dysplasia with joint laxity type 2  (DOID:0112199)
  • 7 papers in RGD have been used to annotate Kif22


  • An association has been curated linking Kif22 and spondyloepimetaphyseal dysplasia with joint laxity type 2 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 KIF22 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to spondyloepimetaphyseal dysplasia with joint laxity type 2  (DOID:0112199)
  • 7 papers in RGD have been used to annotate Kif22
  • Curation Notes: ClinVar Annotator: match by term: KIF22-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations
  • Original References(s): PMID:12727876 PMID:19277648 PMID:22152677 PMID:22152678 PMID:25256152 PMID:25741868 PMID:28492532 PMID:32860008


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