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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Cox4i2 and Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Shteyer E, etal., Am J Hum Genet. 2009 Mar;84(3):412-7. doi: 10.1016/j.ajhg.2009.02.006. Epub 2009 Mar 5.
  • The annotation has been inferred from sequence orthology with COX4I2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 additional annotations were made from Shteyer E, etal., Am J Hum Genet. 2009 Mar;84(3):412-7. doi: 10.1016/j.ajhg.2009.02.006. Epub 2009 Mar 5.
  • 1 CRRD objects have been annotated to Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  (DOID:9005288)
  • 16 papers in CRRD have been used to annotate Cox4i2
  • Curation Notes: DNA:mutation:cds:c.412G>A (p.E138K)(human)


  • An association has been curated linking Cox4i2 and Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with COX4I2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  (DOID:9005288)
  • 16 papers in CRRD have been used to annotate Cox4i2


  • An association has been curated linking Cox4i2 and Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis in Rattus norvegicus.        

  • 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 COX4I2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  (DOID:9005288)
  • 16 papers in CRRD have been used to annotate Cox4i2
  • Curation Notes: ClinVar Annotator: match by OMIM:612714
  • Original References(s): PMID:19268275


  • An association has been curated linking Cox4i2 and Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis in Rattus norvegicus.        

  • 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 COX4I2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  (DOID:9005288)
  • 16 papers in CRRD have been used to annotate Cox4i2
  • Curation Notes: ClinVar Annotator: match by OMIM:612714


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