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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking EXT2 and Multiple exostoses 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:150530967 (Homo sapiens)
  • 23 RGD objects have been annotated to Multiple exostoses  (HP:0002762)
  • 6 papers in RGD have been used to annotate EXT2
  • Curation Notes: ClinVar Annotator: match by term: Multiple exostoses


    • An association has been curated linking EXT2 and Multiple exostoses 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:150339006 (Homo sapiens)
  • 23 RGD objects have been annotated to Multiple exostoses  (HP:0002762)
  • 6 papers in RGD have been used to annotate EXT2
  • Curation Notes: ClinVar Annotator: match by term: Multiple exostoses


    • An association has been curated linking EXT2 and Multiple exostoses 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:15163111 (Homo sapiens)
  • 23 RGD objects have been annotated to Multiple exostoses  (HP:0002762)
  • 6 papers in RGD have been used to annotate EXT2
  • Curation Notes: ClinVar Annotator: match by term: Multiple exostoses
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking EXT2 and Multiple exostoses 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:153000991 (Homo sapiens)
  • 23 RGD objects have been annotated to Multiple exostoses  (HP:0002762)
  • 6 papers in RGD have been used to annotate EXT2
  • Curation Notes: ClinVar Annotator: match by term: Multiple exostoses


    • An association has been curated linking EXT2 and Multiple exostoses 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:150530969 (Homo sapiens)
  • 23 RGD objects have been annotated to Multiple exostoses  (HP:0002762)
  • 6 papers in RGD have been used to annotate EXT2
  • Curation Notes: ClinVar Annotator: match by term: Multiple exostoses
  • Original References(s): PMID:17576681 PMID:28492532 PMID:9536098


    • An association has been curated linking EXT2 and Multiple exostoses in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 23 RGD objects have been annotated to Multiple exostoses  (HP:0002762)
  • 6 papers in RGD have been used to annotate EXT2
  • Original References(s): OMIM:133701


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