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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Ube3b and Kaufman oculocerebrofacial syndrome 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 UBE3B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Kaufman oculocerebrofacial syndrome  (DOID:0111456)
  • 6 papers in RGD have been used to annotate Ube3b


    • An association has been curated linking Ube3b and Kaufman oculocerebrofacial syndrome in Rattus norvegicus.        

  • 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 UBE3B (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Kaufman oculocerebrofacial syndrome  (DOID:0111456)
  • 6 papers in RGD have been used to annotate Ube3b
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:28003368


    • An association has been curated linking Ube3b and Kaufman oculocerebrofacial syndrome 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 UBE3B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Kaufman oculocerebrofacial syndrome  (DOID:0111456)
  • 6 papers in RGD have been used to annotate Ube3b
  • Curation Notes: ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type | ClinVar Annotator: match by term: UBE3B-related condition
  • Original References(s): PMID:14556252 PMID:16199547 PMID:1694631 PMID:17576681 PMID:23200864 PMID:23687348 PMID:24615390 PMID:25356970 PMID:25741868 PMID:28492532 PMID:30792901 PMID:36474027 PMID:38177409 PMID:9536098


    • An association has been curated linking Ube3b and Kaufman oculocerebrofacial syndrome 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 Ube3b (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Kaufman oculocerebrofacial syndrome  (DOID:0111456)
  • 6 papers in RGD have been used to annotate Ube3b
  • Curation Notes: OMIM:244450


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