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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Lonp1 and CODAS syndrome 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 LONP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CODAS syndrome  (DOID:0111274)
  • 0 papers in RGD have been used to annotate Lonp1


  • An association has been curated linking Lonp1 and CODAS syndrome 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 LONP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CODAS syndrome  (DOID:0111274)
  • 0 papers in RGD have been used to annotate Lonp1
  • Curation Notes: ClinVar Annotator: match by term: CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME | ClinVar Annotator: match by term: CODAS syndrome | ClinVar Annotator: match by term: Cerebral, ocular, dental, auricular, and skeletal syndrome | ClinVar Annotator: match by term: LONP1-related condition
  • Original References(s): PMID:17576681 PMID:1887855 PMID:25574826 PMID:25741868 PMID:25741869 PMID:25808063 PMID:26034137 PMID:27878435 PMID:28492532 PMID:29408517 PMID:30304514 PMID:31636596 PMID:31923470 PMID:34547244 PMID:5574826 PMID:9536098


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