Send us a Message



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

GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking FAM20C and amelogenesis imperfecta in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Acevedo AC, etal., BMC Med Genet. 2015 Feb 21;16:8. doi: 10.1186/s12881-015-0154-5.
  • 8 additional annotations were made from Acevedo AC, etal., BMC Med Genet. 2015 Feb 21;16:8. doi: 10.1186/s12881-015-0154-5.
  • 72 RGD objects have been annotated to amelogenesis imperfecta  (DOID:2187)
  • 11 papers in RGD have been used to annotate FAM20C
  • Curation Notes: DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human)


  • An association has been curated linking FAM20C and amelogenesis imperfecta in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Vogel P, etal., Vet Pathol. 2012 Nov;49(6):998-1017. doi: 10.1177/0300985812453177. Epub 2012 Jun 25.
  • The annotation has been inferred from sequence orthology with Fam20c (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Vogel P, etal., Vet Pathol. 2012 Nov;49(6):998-1017. doi: 10.1177/0300985812453177. Epub 2012 Jun 25.
  • 72 RGD objects have been annotated to amelogenesis imperfecta  (DOID:2187)
  • 11 papers in RGD have been used to annotate FAM20C


  • Go Back to source page   Continue to Ontology report