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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Alas2 and Erythropoietic Protoporphyria, X-Linked Dominant in Chinchilla lanigera.        

  • 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 ALAS2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Erythropoietic Protoporphyria, X-Linked Dominant  (DOID:9008396)
  • 2 papers in RGD have been used to annotate Alas2


  • An association has been curated linking Alas2 and Erythropoietic Protoporphyria, X-Linked Dominant in Chinchilla lanigera.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene annotations
  • The annotation has been inferred from sequence orthology with ALAS2 (Homo sapiens)
  • 1 RGD objects have been annotated to Erythropoietic Protoporphyria, X-Linked Dominant  (DOID:9008396)
  • 2 papers in RGD have been used to annotate Alas2
  • Qualifier: disease_progression
  • Curation Notes: DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human)
  • Original References(s): PMID:18760763 REF_RGD_ID:18337287


  • An association has been curated linking Alas2 and Erythropoietic Protoporphyria, X-Linked Dominant in Chinchilla lanigera.        

  • 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 ALAS2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Erythropoietic Protoporphyria, X-Linked Dominant  (DOID:9008396)
  • 2 papers in RGD have been used to annotate Alas2
  • Curation Notes: ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED | ClinVar Annotator: match by term: Erythropoietic Protoporphyria, X-Linked Dominant
  • Original References(s): PMID:18760763 PMID:23263862


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