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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking EXT2 and Multiple Exostoses Type I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8687493 (Homo sapiens)
  • 2 RGD objects have been annotated to Multiple Exostoses Type I  (DOID:9003050)
  • 6 papers in RGD have been used to annotate EXT2
  • Curation Notes: ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I
  • Original References(s): PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532


    • An association has been curated linking EXT2 and Multiple Exostoses Type I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10048222|RGD:10049122|RGD:11543941|RGD:11550520|RGD:11609220|RGD:11611714|RGD:11614615|RGD:11615241|RGD:11617621|RGD:11619076|RGD:11623159|RGD:11623898 (Homo sapiens) & RGD:10048222|RGD:10049122|RGD:11543941|RGD:11550520|RGD:11609220|RGD:11611714|RGD:11614615|RGD:11615241|RGD:11617621|RGD:11619076|RGD:11623159|RGD:11623898 (Homo sapiens) & RGD:10048222|RGD:10049122|RGD:11543941|RGD:11550520|RGD:11609220|RGD:11611714|RGD:11614615|RGD:11615241|RGD:11617621|RGD:11619076|RGD:11623159|RGD:11623898 (Homo sapiens) & RGD:10048222|RGD:10049122|RGD:11543941|RGD:11550520|RGD:11609220|RGD:11611714|RGD:11614615|RGD:11615241|RGD:11617621|RGD:11619076|RGD:11623159|RGD:11623898 (Homo sapiens) & RGD:10048222|RGD:10049122|RGD:11543941|RGD:11550520|RGD:11609220|RGD:11611714|RGD:11614615|RGD:11615241|RGD:11617621|RGD:11619076|RGD:11623159|RGD:11623898 (Homo sapiens) & RGD:10048222|RGD:10049122|RGD:11543941|RGD:11550520|RGD:11609220|RGD:11611714|RGD:11614615|RGD:11615241|RGD:11617621|RGD:11619076|RGD:11623159|RGD:11623898 (Homo sapiens) & RGD:10048222|RGD:10049122|RGD:11543941|RGD:11550520|RGD:11609220|RGD:11611714|RGD:11614615|RGD:11615241|RGD:11617621|RGD:11619076|RGD:11623159|RGD:11623898 (Homo sapiens) & RGD:10048222|RGD:10049122|RGD:11543941|RGD:11550520|RGD:11609220|RGD:11611714|RGD:11614615|RGD:11615241|RGD:11617621|RGD:11619076|RGD:11623159|RGD:11623898 (Homo sapiens) & RGD:10048222|RGD:10049122|RGD:11543941|RGD:11550520|RGD:11609220|RGD:11611714|RGD:11614615|RGD:11615241|RGD:11617621|RGD:11619076|RGD:11623159|RGD:11623898 (Homo sapiens) & RGD:10048222|RGD:10049122|RGD:11543941|RGD:11550520|RGD:11609220|RGD:11611714|RGD:11614615|RGD:11615241|RGD:11617621|RGD:11619076|RGD:11623159|RGD:11623898 (Homo sapiens) & RGD:10048222|RGD:10049122|RGD:11543941|RGD:11550520|RGD:11609220|RGD:11611714|RGD:11614615|RGD:11615241|RGD:11617621|RGD:11619076|RGD:11623159|RGD:11623898 (Homo sapiens) & RGD:10048222|RGD:10049122|RGD:11543941|RGD:11550520|RGD:11609220|RGD:11611714|RGD:11614615|RGD:11615241|RGD:11617621|RGD:11619076|RGD:11623159|RGD:11623898 (Homo sapiens)
  • 2 RGD objects have been annotated to Multiple Exostoses Type I  (DOID:9003050)
  • 6 papers in RGD have been used to annotate EXT2
  • Curation Notes: ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I
  • Original References(s): PMID:25741868 PMID:28492532


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