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GENE - TERM ANNOTATION REPORT

14 Annotations Found.

An association has been curated linking Hesx1 and septooptic dysplasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Dattani MT, etal., Nat Genet. 1998 Jun;19(2):125-33.
  • The annotation has been inferred from sequence orthology with HESX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Dattani MT, etal., Nat Genet. 1998 Jun;19(2):125-33.
  • 10 RGD objects have been annotated to septooptic dysplasia  (DOID:0060857)
  • 6 papers in RGD have been used to annotate Hesx1
  • Curation Notes: DNA:transition:CDS:p.R160C (478C>T) human


  • An association has been curated linking Hesx1 and septooptic dysplasia 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 HESX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to septooptic dysplasia  (DOID:0060857)
  • 6 papers in RGD have been used to annotate Hesx1


  • An association has been curated linking Hesx1 and septooptic dysplasia 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 HESX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to septooptic dysplasia  (DOID:0060857)
  • 6 papers in RGD have been used to annotate Hesx1
  • Curation Notes: ClinVar Annotator: match by term: Septo-optic dysplasia sequence
  • Original References(s): PMID:28492532


  • An association has been curated linking Hesx1 and septooptic dysplasia 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 HESX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to septooptic dysplasia  (DOID:0060857)
  • 6 papers in RGD have been used to annotate Hesx1
  • Curation Notes: ClinVar Annotator: match by term: Septo-optic dysplasia sequence
  • Original References(s): PMID:17148560 PMID:28492532


  • An association has been curated linking Hesx1 and septooptic dysplasia 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 HESX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to septooptic dysplasia  (DOID:0060857)
  • 6 papers in RGD have been used to annotate Hesx1
  • Curation Notes: ClinVar Annotator: match by term: Septo-optic dysplasia sequence
  • Original References(s): PMID:8696006 PMID:9620767


  • An association has been curated linking Hesx1 and septooptic dysplasia 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 HESX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to septooptic dysplasia  (DOID:0060857)
  • 6 papers in RGD have been used to annotate Hesx1
  • Curation Notes: ClinVar Annotator: match by term: Septo-optic dysplasia sequence
  • Original References(s): PMID:11748154 PMID:19093031 PMID:28492532 PMID:9620767


  • An association has been curated linking Hesx1 and septooptic dysplasia 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 HESX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to septooptic dysplasia  (DOID:0060857)
  • 6 papers in RGD have been used to annotate Hesx1
  • Curation Notes: ClinVar Annotator: match by term: Septo-optic dysplasia sequence
  • Original References(s): PMID:14557462


  • An association has been curated linking Hesx1 and septooptic dysplasia 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 HESX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to septooptic dysplasia  (DOID:0060857)
  • 6 papers in RGD have been used to annotate Hesx1
  • Curation Notes: ClinVar Annotator: match by term: Septo-optic dysplasia sequence


  • An association has been curated linking Hesx1 and septooptic dysplasia 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 HESX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to septooptic dysplasia  (DOID:0060857)
  • 6 papers in RGD have been used to annotate Hesx1
  • Curation Notes: ClinVar Annotator: match by term: Septo-optic dysplasia sequence
  • Original References(s): PMID:21325470 PMID:28492532


  • An association has been curated linking Hesx1 and septooptic dysplasia 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 HESX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to septooptic dysplasia  (DOID:0060857)
  • 6 papers in RGD have been used to annotate Hesx1
  • Curation Notes: ClinVar Annotator: match by term: Septooptic dysplasia, mild
  • Original References(s): PMID:10599689 PMID:11136712 PMID:11748154


  • An association has been curated linking Hesx1 and septooptic dysplasia 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 HESX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to septooptic dysplasia  (DOID:0060857)
  • 6 papers in RGD have been used to annotate Hesx1
  • Curation Notes: ClinVar Annotator: match by term: Septo-optic dysplasia sequence
  • Original References(s): PMID:25741868


  • An association has been curated linking Hesx1 and septooptic dysplasia 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 HESX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to septooptic dysplasia  (DOID:0060857)
  • 6 papers in RGD have been used to annotate Hesx1
  • Curation Notes: ClinVar Annotator: match by term: Septo-optic dysplasia sequence
  • Original References(s): PMID:11136712


  • An association has been curated linking Hesx1 and septooptic dysplasia 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 HESX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to septooptic dysplasia  (DOID:0060857)
  • 6 papers in RGD have been used to annotate Hesx1
  • Curation Notes: ClinVar Annotator: match by term: Septo-optic dysplasia sequence
  • Original References(s): PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532


  • An association has been curated linking Hesx1 and septooptic dysplasia 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 HESX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to septooptic dysplasia  (DOID:0060857)
  • 6 papers in RGD have been used to annotate Hesx1
  • Curation Notes: ClinVar Annotator: match by term: Septo-optic dysplasia sequence
  • Original References(s): PMID:21270112 PMID:22466334 PMID:28492532


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