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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking EXOSC3 and pontocerebellar hypoplasia 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:151236272 (Homo sapiens)
  • 46 RGD objects have been annotated to pontocerebellar hypoplasia  (DOID:0060264)
  • 6 papers in RGD have been used to annotate EXOSC3
  • Curation Notes: ClinVar Annotator: match by term: Pontocerebellar hypoplasia


    • An association has been curated linking EXOSC3 and pontocerebellar hypoplasia 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:8657552 (Homo sapiens)
  • 46 RGD objects have been annotated to pontocerebellar hypoplasia  (DOID:0060264)
  • 6 papers in RGD have been used to annotate EXOSC3
  • Curation Notes: ClinVar Annotator: match by term: Pontocerebellar hypoplasia
  • Original References(s): PMID:18414213 PMID:23975261 PMID:24033266 PMID:25741868 PMID:25809939 PMID:28492532


    • An association has been curated linking EXOSC3 and pontocerebellar hypoplasia 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:155730113 (Homo sapiens)
  • 46 RGD objects have been annotated to pontocerebellar hypoplasia  (DOID:0060264)
  • 6 papers in RGD have been used to annotate EXOSC3
  • Curation Notes: ClinVar Annotator: match by term: Pontocerebellar hypoplasia
  • Original References(s): PMID:22544365 PMID:23284067 PMID:24524299 PMID:28492532


    • An association has been curated linking EXOSC3 and pontocerebellar hypoplasia 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:11633151 (Homo sapiens)
  • 46 RGD objects have been annotated to pontocerebellar hypoplasia  (DOID:0060264)
  • 6 papers in RGD have been used to annotate EXOSC3
  • Curation Notes: ClinVar Annotator: match by term: Pontocerebellar hypoplasia
  • Original References(s): PMID:22544365 PMID:23284067 PMID:24524299 PMID:25741868 PMID:28492532 PMID:33462000 PMID:36004024


    • An association has been curated linking EXOSC3 and pontocerebellar hypoplasia 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:38468125 (Homo sapiens)
  • 46 RGD objects have been annotated to pontocerebellar hypoplasia  (DOID:0060264)
  • 6 papers in RGD have been used to annotate EXOSC3
  • Curation Notes: ClinVar Annotator: match by term: Pontocerebellar hypoplasia
  • Original References(s): PMID:22544365 PMID:23284067 PMID:23975261 PMID:24524299 PMID:25533962 PMID:28492532 PMID:31980526


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