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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Pkdcc and RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES in Ictidomys tridecemlineatus.        

  • 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 PKDCC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES  (DOID:9003152)
  • 0 papers in RGD have been used to annotate Pkdcc
  • Curation Notes: ClinVar Annotator: match by term: Rhizomelic limb shortening with dysmorphic features
  • Original References(s): PMID:16199547 PMID:19097194 PMID:25741868 PMID:28492532 PMID:30478137 PMID:36896672


    • An association has been curated linking Pkdcc and RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES in Ictidomys tridecemlineatus.        

  • 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 PKDCC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES  (DOID:9003152)
  • 0 papers in RGD have been used to annotate Pkdcc


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