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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking SHH and hypoplastic or aplastic tibia with polydactyly in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Wieczorek D, etal., Hum Mutat. 2010 Jan;31(1):81-9. doi: 10.1002/humu.21142.
  • 2 additional annotations were made from Wieczorek D, etal., Hum Mutat. 2010 Jan;31(1):81-9. doi: 10.1002/humu.21142.
  • 3 RGD objects have been annotated to hypoplastic or aplastic tibia with polydactyly  (DOID:0111564)
  • 62 papers in RGD have been used to annotate SHH
  • Curation Notes: DNA:point mutations:enhancer:404G>A, 404G>C (human)


    • An association has been curated linking Shh and hypoplastic or aplastic tibia with polydactyly in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Wieczorek D, etal., Hum Mutat. 2010 Jan;31(1):81-9. doi: 10.1002/humu.21142.
  • The annotation has been inferred from sequence orthology with SHH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Wieczorek D, etal., Hum Mutat. 2010 Jan;31(1):81-9. doi: 10.1002/humu.21142.
  • 3 RGD objects have been annotated to hypoplastic or aplastic tibia with polydactyly  (DOID:0111564)
  • 93 papers in RGD have been used to annotate Shh
  • Curation Notes: DNA:point mutations:enhancer:404G>A, 404G>C (human)


    • An association has been curated linking Shh and hypoplastic or aplastic tibia with polydactyly in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Wieczorek D, etal., Hum Mutat. 2010 Jan;31(1):81-9. doi: 10.1002/humu.21142.
  • The annotation has been inferred from sequence orthology with SHH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Wieczorek D, etal., Hum Mutat. 2010 Jan;31(1):81-9. doi: 10.1002/humu.21142.
  • 3 RGD objects have been annotated to hypoplastic or aplastic tibia with polydactyly  (DOID:0111564)
  • 64 papers in RGD have been used to annotate Shh
  • Curation Notes: DNA:point mutations:enhancer:404G>A, 404G>C (human)


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