Send us a Message



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

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Col17a1 and amelogenesis imperfecta type 1A in Ictidomys tridecemlineatus.        

  • 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 COL17A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to amelogenesis imperfecta type 1A  (DOID:0110054)
  • 0 papers in RGD have been used to annotate Col17a1
  • Curation Notes: ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A
  • Original References(s): PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 PMID:24319098 PMID:25741868 PMID:28492532


  • Go Back to source page   Continue to Ontology report