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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Kat6b and Ohdo syndrome, SBBYS variant in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Clayton-Smith J, etal., Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi: 10.1016/j.ajhg.2011.10.008.
  • The annotation has been inferred from sequence orthology with KAT6B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 additional annotations were made from Clayton-Smith J, etal., Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi: 10.1016/j.ajhg.2011.10.008.
  • 3 RGD objects have been annotated to Ohdo syndrome, SBBYS variant  (DOID:0060290)
  • 12 papers in RGD have been used to annotate Kat6b
  • Curation Notes: DNA:mutations:cds:multiple (human)


    • An association has been curated linking Kat6b and Ohdo syndrome, SBBYS variant 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 KAT6B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Ohdo syndrome, SBBYS variant  (DOID:0060290)
  • 12 papers in RGD have been used to annotate Kat6b


    • An association has been curated linking Kat6b and Ohdo syndrome, SBBYS variant 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 KAT6B (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to Ohdo syndrome, SBBYS variant  (DOID:0060290)
  • 12 papers in RGD have been used to annotate Kat6b
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Kat6b and Ohdo syndrome, SBBYS variant 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 KAT6B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Ohdo syndrome, SBBYS variant  (DOID:0060290)
  • 12 papers in RGD have been used to annotate Kat6b
  • Curation Notes: ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome
  • Original References(s): PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 PMID:22715153 PMID:23236640 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:25741872 PMID:26334766 PMID:26938784 PMID:27696664 PMID:27848944 PMID:28492532 PMID:28758091 PMID:30353918 PMID:32424177 PMID:8055130


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