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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Timp3 and Sorsby's fundus dystrophy 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 TIMP3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Sorsby's fundus dystrophy  (DOID:0090114)
  • 51 papers in RGD have been used to annotate Timp3


    • An association has been curated linking Timp3 and Sorsby's fundus dystrophy 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 TIMP3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Sorsby's fundus dystrophy  (DOID:0090114)
  • 51 papers in RGD have been used to annotate Timp3
  • Curation Notes: ClinVar Annotator: match by term: Sorsby fundus dystrophy | ClinVar Annotator: match by term: TIMP3-related condition
  • Original References(s): PMID:10854443 PMID:19478078 PMID:25741868 PMID:27601084 PMID:28492532 PMID:31415707 PMID:31757977 PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 PMID:8981947


    • An association has been curated linking Timp3 and Sorsby's fundus dystrophy in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Timp3 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Sorsby's fundus dystrophy  (DOID:0090114)
  • 51 papers in RGD have been used to annotate Timp3
  • Curation Notes: OMIM:136900


    • An association has been curated linking Timp3 and Sorsby's fundus dystrophy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TIMP3 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to Sorsby's fundus dystrophy  (DOID:0090114)
  • 51 papers in RGD have been used to annotate Timp3
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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