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GENE - TERM ANNOTATION REPORT

87 Annotations Found.

An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151742555 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:17576681 PMID:28492532 PMID:9536098


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151774191 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:127321816 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11586884 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:127337918 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151833823 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151718493 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:152078948 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:155946681 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:40903209 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:25741868


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13511316 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11652742 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8560060 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:14557462


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:21071208 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: Septo-optic dysplasia


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11582918 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:28874953 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13837526 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11652139 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10052137 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:17148560 PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:28877488 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:15109263 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11580957 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:21325470 PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11592876 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11650794 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:150542452 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151726348 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13510805 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8560055 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:8696006 PMID:9620767


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:243052913 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:25741868


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:243053135 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:25741868


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13510890 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:126772671 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:126729662 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11644055 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:21270112 PMID:22466334 PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151890756 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11567293 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 PMID:32870266


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151834557 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:404994342 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156438221 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532 PMID:32796691


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156447177 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156007322 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156128129 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156165411 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156053588 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156204978 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:155977715 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156408115 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:15116722 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156310495 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156046313 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156059583 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:17576681 PMID:28492532 PMID:9536098


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8560064 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:11136712 PMID:18852528 PMID:28492532 PMID:31022718 PMID:33451138


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156139628 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156230779 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156209817 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151873492 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:16940453 PMID:21270112 PMID:28492532 PMID:9620767


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156184123 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151794775 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:16940453 PMID:21270112 PMID:28492532 PMID:9620767


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156018442 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156139654 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156182061 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156108639 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:11748154 PMID:25910213 PMID:27013732 PMID:28492532 PMID:9620767


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:126727213 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:23465708 PMID:25741868 PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156111245 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:16940453 PMID:21270112 PMID:28492532 PMID:9620767


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:150413217 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:25741868 PMID:27000987 PMID:2700987 PMID:28396770 PMID:28492532 PMID:31395954


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156317909 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:17148560 PMID:28492532 PMID:30888394


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156164681 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156202749 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:27343026 PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151862003 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:17315526 PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156236756 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:404982893 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8560057 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:11136712 PMID:28492532 PMID:32483926 PMID:33098107


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Original References(s): ORPHA:95494


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Original References(s): ORPHA:95496


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Original References(s): ORPHA:3157


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13518405 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:25741868 PMID:26781211 PMID:28332357 PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:404983444 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:40887122 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:19093031 PMID:22145475 PMID:25500790 PMID:27000987 PMID:28492532 PMID:30266296 PMID:9620767


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:329392440 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:155643032 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:402514308 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13512187 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8560056 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:10599689 PMID:11136712 PMID:11748154 PMID:17148560 PMID:28492532 PMID:34906519


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13619520 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:11748154 PMID:16199547 PMID:19093031 PMID:28492532 PMID:9620767


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:405171826 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:405156734 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking HESX1 and Septo-optic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:405108217 (Homo sapiens)
  • 28 RGD objects have been annotated to Septo-optic dysplasia  (HP:0100842)
  • 6 papers in RGD have been used to annotate HESX1
  • Curation Notes: ClinVar Annotator: match by term: De morsier syndrome
  • Original References(s): PMID:28492532


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