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 Col4a2 and porencephaly in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Ha TT, etal., Am J Med Genet A. 2016 Apr;170A(4):1059-63. doi: 10.1002/ajmg.a.37527. Epub 2015 Dec 28.
  • The annotation has been inferred from sequence orthology with COL4A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ha TT, etal., Am J Med Genet A. 2016 Apr;170A(4):1059-63. doi: 10.1002/ajmg.a.37527. Epub 2015 Dec 28.
  • 3 RGD objects have been annotated to porencephaly  (DOID:0060263)
  • 14 papers in RGD have been used to annotate Col4a2
  • Curation Notes: DNA:mutation:cds:c.2399G>A,p.G800E(human)


  • An association has been curated linking Col4a2 and porencephaly in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL4A2 (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to porencephaly  (DOID:0060263)
  • 14 papers in RGD have been used to annotate Col4a2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • Go Back to source page   Continue to Ontology report