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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking GHR and familial hypercholesterolemia in Canis lupus familiaris.        

  • 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 GHR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 49 RGD objects have been annotated to familial hypercholesterolemia  (DOID:13810)
  • 0 papers in RGD have been used to annotate GHR


    • An association has been curated linking GHR and familial hypercholesterolemia in Canis lupus familiaris.        

  • 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 GHR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 49 RGD objects have been annotated to familial hypercholesterolemia  (DOID:13810)
  • 0 papers in RGD have been used to annotate GHR
  • Curation Notes: ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
  • Original References(s): PMID:12910492 PMID:17462934 PMID:25741868 PMID:26467025 PMID:28492532 PMID:7565946 PMID:8504296


    • An association has been curated linking GHR and familial hypercholesterolemia in Canis lupus familiaris.        

  • 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 GHR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 49 RGD objects have been annotated to familial hypercholesterolemia  (DOID:13810)
  • 0 papers in RGD have been used to annotate GHR
  • Curation Notes: ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
  • Original References(s): PMID:11502828 PMID:12910492 PMID:17462934 PMID:25741868 PMID:26467025 PMID:28492532 PMID:7565946 PMID:8504296 PMID:9360502


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