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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking MED12 and Prominent forehead in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Prontera P, etal., Am J Med Genet A. 2016 Sep;170(9):2377-82. doi: 10.1002/ajmg.a.37805. Epub 2016 Jun 17.
  • 3 additional annotations were made from Prontera P, etal., Am J Med Genet A. 2016 Sep;170(9):2377-82. doi: 10.1002/ajmg.a.37805. Epub 2016 Jun 17.
  • 258 RGD objects have been annotated to Prominent forehead  (HP:0011220)
  • 13 papers in RGD have been used to annotate MED12


    • An association has been curated linking MED12 and Prominent forehead in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Risheg H, etal., Nat Genet. 2007 Apr;39(4):451-3. Epub 2007 Mar 4.
  • 8 additional annotations were made from Risheg H, etal., Nat Genet. 2007 Apr;39(4):451-3. Epub 2007 Mar 4.
  • 258 RGD objects have been annotated to Prominent forehead  (HP:0011220)
  • 13 papers in RGD have been used to annotate MED12
  • Curation Notes: associated with Opitz-Kaveggia Syndrome; DNA:missense mutation:cds:2881C>T(p.R961W)(human)


    • An association has been curated linking MED12 and Prominent forehead in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 258 RGD objects have been annotated to Prominent forehead  (HP:0011220)
  • 13 papers in RGD have been used to annotate MED12
  • Original References(s): OMIM:305450


    • An association has been curated linking MED12 and Prominent forehead in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 258 RGD objects have been annotated to Prominent forehead  (HP:0011220)
  • 13 papers in RGD have been used to annotate MED12
  • Original References(s): OMIM:300895


    • An association has been curated linking MED12 and Prominent forehead in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 258 RGD objects have been annotated to Prominent forehead  (HP:0011220)
  • 13 papers in RGD have been used to annotate MED12
  • Original References(s): OMIM:309520


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