Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

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.
  • 2 RGD objects have been annotated to hypoplastic or aplastic tibia with polydactyly  (DOID:0111564)
  • 89 papers in RGD have been used to annotate Shh
  • Curation Notes: DNA:point mutations:enhancer:404G>A, 404G>C (human)


  • Go Back to source page   Continue to Ontology report



    NHLBI Logo

    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.