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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Med12 and X-Linked Intellectual Developmental Disorders in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Lesca G, etal., Am J Med Genet A. 2013 Dec;161A(12):3063-71. doi: 10.1002/ajmg.a.36162. Epub 2013 Aug 16.
  • The annotation has been inferred from sequence orthology with MED12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Lesca G, etal., Am J Med Genet A. 2013 Dec;161A(12):3063-71. doi: 10.1002/ajmg.a.36162. Epub 2013 Aug 16.
  • 814 RGD objects have been annotated to X-Linked Intellectual Developmental Disorders  (DOID:9005867)
  • 14 papers in RGD have been used to annotate Med12
  • Curation Notes: DNA:duplication mutation:cds:c.5898dupC(p.S1967Qfs84)(human)


    • An association has been curated linking Med12 and X-Linked Intellectual Developmental Disorders in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Risheg H, etal., Nat Genet. 2007 Apr;39(4):451-3. Epub 2007 Mar 4.
  • The annotation has been inferred from sequence orthology with MED12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Risheg H, etal., Nat Genet. 2007 Apr;39(4):451-3. Epub 2007 Mar 4.
  • 814 RGD objects have been annotated to X-Linked Intellectual Developmental Disorders  (DOID:9005867)
  • 14 papers in RGD have been used to annotate Med12
  • Curation Notes: DNA:missense mutation:cds:2881C>T(p.R961W)(human)


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