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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking IFT140 and asphyxiating thoracic dystrophy in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 265 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 4 papers in RGD have been used to annotate IFT140
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking IFT140 and asphyxiating thoracic dystrophy 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:13503777 (Homo sapiens)
  • 265 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 4 papers in RGD have been used to annotate IFT140
  • Curation Notes: ClinVar Annotator: match by term: Jeune thoracic dystrophy
  • Original References(s): PMID:28492532 PMID:29068549


    • An association has been curated linking IFT140 and asphyxiating thoracic dystrophy 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:8568962 (Homo sapiens)
  • 265 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 4 papers in RGD have been used to annotate IFT140
  • Curation Notes: ClinVar Annotator: match by term: Jeune thoracic dystrophy
  • Original References(s): PMID:17576681 PMID:22503633 PMID:25741868 PMID:28288023 PMID:28492532 PMID:28559085 PMID:28724397 PMID:29068549 PMID:29688594 PMID:30773290 PMID:9536098


    • An association has been curated linking IFT140 and asphyxiating thoracic dystrophy 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:8574274 (Homo sapiens)
  • 265 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 4 papers in RGD have been used to annotate IFT140
  • Curation Notes: ClinVar Annotator: match by term: Jeune thoracic dystrophy
  • Original References(s): PMID:23418020 PMID:29068549 PMID:29688594


    • An association has been curated linking IFT140 and asphyxiating thoracic dystrophy 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:11580222 (Homo sapiens)
  • 265 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 4 papers in RGD have been used to annotate IFT140
  • Curation Notes: ClinVar Annotator: match by term: Jeune thoracic dystrophy
  • Original References(s): PMID:16199547 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:28492532 PMID:29068549 PMID:34429528 PMID:34890546


    • An association has been curated linking IFT140 and asphyxiating thoracic dystrophy 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:8555127 (Homo sapiens)
  • 265 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 4 papers in RGD have been used to annotate IFT140
  • Curation Notes: ClinVar Annotator: match by term: Jeune thoracic dystrophy
  • Original References(s): PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 PMID:29068549


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