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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking Ube3a and Angelman syndrome in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Silva-Santos S, etal., J Clin Invest. 2015 May;125(5):2069-76. doi: 10.1172/JCI80554. Epub 2015 Apr 13.
  • 2 additional annotations were made from Silva-Santos S, etal., J Clin Invest. 2015 May;125(5):2069-76. doi: 10.1172/JCI80554. Epub 2015 Apr 13.
  • 31 RGD objects have been annotated to Angelman syndrome  (DOID:1932)
  • 14 papers in RGD have been used to annotate Ube3a
  • Qualifier: treatment


    • An association has been curated linking Ube3a and Angelman syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Kishino T, etal., Nat Genet 1997 Jan;15(1):70-3.
  • The annotation has been inferred from sequence orthology with UBE3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Kishino T, etal., Nat Genet 1997 Jan;15(1):70-3.
  • 31 RGD objects have been annotated to Angelman syndrome  (DOID:1932)
  • 14 papers in RGD have been used to annotate Ube3a


    • An association has been curated linking Ube3a and Angelman syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Berg EL, etal., Transl Psychiatry. 2020 Jan 27;10(1):39. doi: 10.1038/s41398-020-0720-2.
  • The annotation has been inferred from sequence orthology with Ube3a (Rattus norvegicus) [(IMP) inferred from mutant phenotype]
  • 30 additional annotations were made from Berg EL, etal., Transl Psychiatry. 2020 Jan 27;10(1):39. doi: 10.1038/s41398-020-0720-2.
  • 31 RGD objects have been annotated to Angelman syndrome  (DOID:1932)
  • 14 papers in RGD have been used to annotate Ube3a


    • An association has been curated linking Ube3a and Angelman syndrome in Mus musculus.        

  • 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 UBE3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 31 RGD objects have been annotated to Angelman syndrome  (DOID:1932)
  • 14 papers in RGD have been used to annotate Ube3a


    • An association has been curated linking Ube3a and Angelman syndrome in Mus musculus.        

  • The association was inferred from direct assay (IDA)
    		•  
  • The annotation was made from Meng L, etal., Nature. 2015 Feb 19;518(7539):409-12. doi: 10.1038/nature13975. Epub 2014 Dec 1.
  • 2 additional annotations were made from Meng L, etal., Nature. 2015 Feb 19;518(7539):409-12. doi: 10.1038/nature13975. Epub 2014 Dec 1.
  • 31 RGD objects have been annotated to Angelman syndrome  (DOID:1932)
  • 14 papers in RGD have been used to annotate Ube3a
  • Qualifier: treatment


    • An association has been curated linking Ube3a and Angelman syndrome in Mus musculus.        

  • 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 UBE3A (Homo sapiens) [(EXP) inferred from experiment]
  • 31 RGD objects have been annotated to Angelman syndrome  (DOID:1932)
  • 14 papers in RGD have been used to annotate Ube3a
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:15878204


    • An association has been curated linking Ube3a and Angelman syndrome in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 31 RGD objects have been annotated to Angelman syndrome  (DOID:1932)
  • 14 papers in RGD have been used to annotate Ube3a
  • Curation Notes: OMIM:105830


    • An association has been curated linking Ube3a and Angelman syndrome in Mus musculus.        

  • 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 UBE3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 31 RGD objects have been annotated to Angelman syndrome  (DOID:1932)
  • 14 papers in RGD have been used to annotate Ube3a
  • Curation Notes: ClinVar Annotator: match by term: Angelman syndrome | ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME
  • Original References(s): PMID:10647895 PMID:11748306 PMID:12210318 PMID:12725589 PMID:14981718 PMID:15054837 PMID:15150776 PMID:15263005 PMID:16199547 PMID:16470747 PMID:17576681 PMID:17765640 PMID:17940072 PMID:18414213 PMID:18821858 PMID:19213023 PMID:20034088 PMID:21072004 PMID:22190369 PMID:22670133 PMID:2309781 PMID:23416059 PMID:23495136 PMID:23708187 PMID:24088041 PMID:24796722 PMID:24876791 PMID:25099823 PMID:25212744 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25884337 PMID:26068938 PMID:26219744 PMID:26255772 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26993267 PMID:27620904 PMID:27864847 PMID:28252636 PMID:28281572 PMID:28492532 PMID:29162042 PMID:29188609 PMID:29655203 PMID:29737008 PMID:29758562 PMID:29915382 PMID:31031587 PMID:31235931 PMID:32639967 PMID:33607653 PMID:34815418 PMID:34906502 PMID:38177409 PMID:8988171 PMID:8988172 PMID:9536098 PMID:9585605 PMID:9792887 PMID:9887341


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