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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Sptan1 and short-rib thoracic dysplasia 11 with or without polydactyly 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 SPTAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to short-rib thoracic dysplasia 11 with or without polydactyly  (DOID:0110095)
  • 23 papers in RGD have been used to annotate Sptan1
  • Curation Notes: ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly
  • Original References(s): PMID:24183449 PMID:24183451 PMID:28379358 PMID:28492532 PMID:29068549 PMID:33578420


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