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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Pnpla6 and Laurence-Moon 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 PNPLA6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Laurence-Moon syndrome  (DOID:1930)
  • 6 papers in RGD have been used to annotate Pnpla6


    • An association has been curated linking Pnpla6 and Laurence-Moon 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 PNPLA6 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Laurence-Moon syndrome  (DOID:1930)
  • 6 papers in RGD have been used to annotate Pnpla6
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Pnpla6 and Laurence-Moon 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 PNPLA6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Laurence-Moon syndrome  (DOID:1930)
  • 6 papers in RGD have been used to annotate Pnpla6
  • Curation Notes: ClinVar Annotator: match by term: Laurence-Moon syndrome
  • Original References(s): PMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25299038 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31135245 PMID:38735647 PMID:3963113 PMID:8053762


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