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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking Acan and Dwarfism in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Quintos JB, etal., J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):927-32. doi: 10.1515/jpem-2014-0450.
  • The annotation has been inferred from sequence orthology with ACAN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Quintos JB, etal., J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):927-32. doi: 10.1515/jpem-2014-0450.
  • 861 RGD objects have been annotated to Dwarfism  (DOID:9007661)
  • 30 papers in RGD have been used to annotate Acan
  • Curation Notes: DNA:frameshift mutation:exon:c.5391delG (human)


    • An association has been curated linking Acan and Dwarfism in Mus musculus.        

  • The association was inferred from expression pattern (IEP)
    		•  
  • The annotation was made from Watanabe H and Yamada Y, Nat Genet 1999 Feb;21(2):225-9.
  • 5 additional annotations were made from Watanabe H and Yamada Y, Nat Genet 1999 Feb;21(2):225-9.
  • 861 RGD objects have been annotated to Dwarfism  (DOID:9007661)
  • 30 papers in RGD have been used to annotate Acan
  • Curation Notes: protein:decreased expression:cartilage


    • An association has been curated linking Acan and Dwarfism in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Nilsson O, etal., J Clin Endocrinol Metab. 2014 Aug;99(8):E1510-8. doi: 10.1210/jc.2014-1332. Epub 2014 Apr 24.
  • The annotation has been inferred from sequence orthology with ACAN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Nilsson O, etal., J Clin Endocrinol Metab. 2014 Aug;99(8):E1510-8. doi: 10.1210/jc.2014-1332. Epub 2014 Apr 24.
  • 861 RGD objects have been annotated to Dwarfism  (DOID:9007661)
  • 30 papers in RGD have been used to annotate Acan
  • Curation Notes: DNA:frameshift mutation, missense mutation, splice-site mutation:exon:c.272delA, c.2026+1G>A, c.7064T>C (p.L2355P) (human)


    • An association has been curated linking Acan and Dwarfism in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Watanabe H, etal., Proc Natl Acad Sci U S A 1997 Jun 24;94(13):6943-7.
  • 8 additional annotations were made from Watanabe H, etal., Proc Natl Acad Sci U S A 1997 Jun 24;94(13):6943-7.
  • 861 RGD objects have been annotated to Dwarfism  (DOID:9007661)
  • 30 papers in RGD have been used to annotate Acan


    • An association has been curated linking Acan and Dwarfism in Mus musculus.        

  • The association was inferred from expression pattern (IEP)
    		•  
  • The annotation was made from Seegmiller RE, etal., J Histochem Cytochem. 2008 Nov;56(11):1003-11. doi: 10.1369/jhc.2008.951673. Epub 2008 Aug 4.
  • 5 additional annotations were made from Seegmiller RE, etal., J Histochem Cytochem. 2008 Nov;56(11):1003-11. doi: 10.1369/jhc.2008.951673. Epub 2008 Aug 4.
  • 861 RGD objects have been annotated to Dwarfism  (DOID:9007661)
  • 30 papers in RGD have been used to annotate Acan
  • Curation Notes: mRNA:decreased expression:costal cartilage


    • An association has been curated linking Acan and Dwarfism in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Tanaka M, etal., Exp Anim. 2015;64(2):121-8. doi: 10.1538/expanim.14-0072. Epub 2014 Dec 20.
  • The annotation has been inferred from sequence orthology with Acan (Rattus norvegicus) [(IEP) inferred from expression pattern]
  • 2 additional annotations were made from Tanaka M, etal., Exp Anim. 2015;64(2):121-8. doi: 10.1538/expanim.14-0072. Epub 2014 Dec 20.
  • 861 RGD objects have been annotated to Dwarfism  (DOID:9007661)
  • 30 papers in RGD have been used to annotate Acan
  • Curation Notes: protein:altered localization:cartilage


    • An association has been curated linking Acan and Dwarfism 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 ACAN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 861 RGD objects have been annotated to Dwarfism  (DOID:9007661)
  • 30 papers in RGD have been used to annotate Acan
  • Curation Notes: ClinVar Annotator: match by term: Short stature


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