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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking GJB4 and erythrokeratodermia variabilis in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with GJB4 (Homo sapiens)
  • 9 RGD objects have been annotated to erythrokeratodermia variabilis  (DOID:0050467)
  • 0 papers in RGD have been used to annotate GJB4
  • Curation Notes: DNA:missense mutation: :p.F137L (human)
  • Original References(s): PMID:11017804 REF_RGD_ID:1598971


    • An association has been curated linking GJB4 and erythrokeratodermia variabilis in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with GJB4 (Homo sapiens)
  • 9 RGD objects have been annotated to erythrokeratodermia variabilis  (DOID:0050467)
  • 0 papers in RGD have been used to annotate GJB4
  • Curation Notes: DNA:missense mutations:exon:multiple
  • Original References(s): PMID:12648223 REF_RGD_ID:1598970


    • An association has been curated linking GJB4 and erythrokeratodermia variabilis in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with GJB4 (Homo sapiens)
  • 9 RGD objects have been annotated to erythrokeratodermia variabilis  (DOID:0050467)
  • 0 papers in RGD have been used to annotate GJB4
  • Curation Notes: DNA:missense mutation:exon:p.C86S (c.256T>A) (human)
  • Original References(s): PMID:23037955 REF_RGD_ID:12437072


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