Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking IFT80 and asphyxiating thoracic dystrophy in Sus scrofa.        

  • 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 IFT80 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 231 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 0 papers in RGD have been used to annotate IFT80
  • Curation Notes: ClinVar Annotator: match by term: Jeune thoracic dystrophy
  • Original References(s): PMID:11727201 PMID:12673792 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:19763152 PMID:20301601 PMID:20307669 PMID:21227999 PMID:22406018 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:29658880 PMID:30266093 PMID:30767363 PMID:33957996 PMID:9536098


  • An association has been curated linking IFT80 and asphyxiating thoracic dystrophy in Sus scrofa.        

  • 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 IFT80 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 231 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 0 papers in RGD have been used to annotate IFT80
  • Curation Notes: ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
  • Original References(s): PMID:16199547 PMID:16385454 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:19763152 PMID:20307669 PMID:21227999 PMID:22406018 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:29658880 PMID:29923190 PMID:30266093 PMID:30767363 PMID:9536098


  • An association has been curated linking IFT80 and asphyxiating thoracic dystrophy in Sus scrofa.        

  • 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 IFT80 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 231 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 0 papers in RGD have been used to annotate IFT80
  • Curation Notes: ClinVar Annotator: match by term: Jeune thoracic dystrophy
  • Original References(s): PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:19763152 PMID:20307669 PMID:21227999 PMID:22406018 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:29658880 PMID:29923190 PMID:30266093 PMID:30767363 PMID:33957996 PMID:9536098


  • Go Back to source page   Continue to Ontology report