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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Abhd5 and Chanarin-Dorfman syndrome 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 ABHD5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 22 RGD objects have been annotated to Chanarin-Dorfman syndrome  (DOID:0050729)
  • 11 papers in RGD have been used to annotate Abhd5


  • An association has been curated linking Abhd5 and Chanarin-Dorfman syndrome 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 ABHD5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 22 RGD objects have been annotated to Chanarin-Dorfman syndrome  (DOID:0050729)
  • 11 papers in RGD have been used to annotate Abhd5
  • Curation Notes: ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
  • Original References(s): PMID:11590543 PMID:14708602 PMID:15136565 PMID:16199547 PMID:18339307 PMID:18682927 PMID:20022472 PMID:20520629 PMID:22373837 PMID:25741868 PMID:27025581 PMID:28492532 PMID:29130490 PMID:31883530 PMID:3354610 PMID:6181472


  • An association has been curated linking Abhd5 and Chanarin-Dorfman syndrome 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 ABHD5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 22 RGD objects have been annotated to Chanarin-Dorfman syndrome  (DOID:0050729)
  • 11 papers in RGD have been used to annotate Abhd5
  • Curation Notes: ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
  • Original References(s): PMID:11590543 PMID:14708602 PMID:15136565 PMID:16199547 PMID:18339307 PMID:18682927 PMID:20022472 PMID:20520629 PMID:22373837 PMID:25741868 PMID:27025581 PMID:28492532 PMID:29130490 PMID:31883530 PMID:3354610 PMID:545139 PMID:6181472 PMID:7362208


  • An association has been curated linking Abhd5 and Chanarin-Dorfman syndrome 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 Abhd5 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 22 RGD objects have been annotated to Chanarin-Dorfman syndrome  (DOID:0050729)
  • 11 papers in RGD have been used to annotate Abhd5
  • Curation Notes: OMIM:275630


  • An association has been curated linking Abhd5 and Chanarin-Dorfman syndrome 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 ABHD5 (Homo sapiens) [(EXP) inferred from experiment]
  • 22 RGD objects have been annotated to Chanarin-Dorfman syndrome  (DOID:0050729)
  • 11 papers in RGD have been used to annotate Abhd5
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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