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GENE - TERM ANNOTATION REPORT

4 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.
  • 16 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]
  • 16 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 or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Hesx1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 16 RGD objects have been annotated to septooptic dysplasia  (DOID:0060857)
  • 6 papers in RGD have been used to annotate Hesx1
  • Curation Notes: OMIM:182230


    • 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]
  • 16 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:10599689 PMID:11136712 PMID:11748154 PMID:14557462 PMID:16199547 PMID:16940453 PMID:17148560 PMID:17315526 PMID:17576681 PMID:18852528 PMID:19093031 PMID:21270112 PMID:21325470 PMID:22145475 PMID:22466334 PMID:23465708 PMID:24703149 PMID:25500790 PMID:25741868 PMID:25910213 PMID:26781211 PMID:27000987 PMID:2700987 PMID:27013732 PMID:27343026 PMID:28332357 PMID:28396770 PMID:28492532 PMID:30266296 PMID:30888394 PMID:31022718 PMID:31395954 PMID:32483926 PMID:32796691 PMID:32870266 PMID:33098107 PMID:33451138 PMID:34906519 PMID:8696006 PMID:9536098 PMID:9620767


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