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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Lipa and cholesterol ester storage disease in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Hoeg JM, etal., Am J Hum Genet. 1984 Nov;36(6):1190-203.
  • The annotation has been inferred from sequence orthology with LIPA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Hoeg JM, etal., Am J Hum Genet. 1984 Nov;36(6):1190-203.
  • 8 RGD objects have been annotated to cholesterol ester storage disease  (DOID:14502)
  • 11 papers in RGD have been used to annotate Lipa


    • An association has been curated linking Lipa and cholesterol ester storage disease in Mus musculus.        

  • 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 LIPA (Homo sapiens) [(EXP) inferred from experiment]
  • 8 RGD objects have been annotated to cholesterol ester storage disease  (DOID:14502)
  • 11 papers in RGD have been used to annotate Lipa
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:24295952


    • An association has been curated linking Lipa and cholesterol ester storage disease in Mus musculus.        

  • 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 LIPA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to cholesterol ester storage disease  (DOID:14502)
  • 11 papers in RGD have been used to annotate Lipa


    • An association has been curated linking Lipa and cholesterol ester storage disease in Mus musculus.        

  • 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 LIPA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to cholesterol ester storage disease  (DOID:14502)
  • 11 papers in RGD have been used to annotate Lipa
  • Curation Notes: ClinVar Annotator: match by term: Cholesteryl ester storage disease
  • Original References(s): PMID:10562460 PMID:11441129 PMID:16255772 PMID:17576681 PMID:2129132 PMID:21291321 PMID:21757691 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23485521 PMID:23583223 PMID:24072694 PMID:25722898 PMID:25741868 PMID:25741916 PMID:25852113 PMID:26225414 PMID:26252914 PMID:26350820 PMID:28374935 PMID:28492532 PMID:28502505 PMID:28502515 PMID:28881270 PMID:29958253 PMID:30684275 PMID:31182375 PMID:31230978 PMID:31392116 PMID:7499245 PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 PMID:8617513 PMID:8894696 PMID:9536098 PMID:9684740


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