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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Ttc21b and asphyxiating thoracic dystrophy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TTC21B (Homo sapiens) [(EXP) inferred from experiment]
  • 228 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 5 papers in RGD have been used to annotate Ttc21b
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Ttc21b and asphyxiating thoracic dystrophy in Rattus norvegicus.        

  • 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 TTC21B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 228 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 5 papers in RGD have been used to annotate Ttc21b
  • Curation Notes: ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome
  • Original References(s): PMID:16199547 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18414213 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:22773737 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24033266 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25640679 PMID:25741868 PMID:26068938 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:32173348 PMID:33532864 PMID:9536098


    • An association has been curated linking Ttc21b and asphyxiating thoracic dystrophy in Rattus norvegicus.        

  • 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 TTC21B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 228 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 5 papers in RGD have been used to annotate Ttc21b
  • Curation Notes: ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome
  • Original References(s): PMID:16199547 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18414213 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:22773737 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24033266 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25640679 PMID:25741868 PMID:26068938 PMID:26489029 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:32173348 PMID:33532864 PMID:9536098


    • An association has been curated linking Ttc21b and asphyxiating thoracic dystrophy in Rattus norvegicus.        

  • 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 TTC21B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 228 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 5 papers in RGD have been used to annotate Ttc21b
  • Curation Notes: ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome
  • Original References(s): PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18414213 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:22773737 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24033266 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25640679 PMID:25741868 PMID:25741905 PMID:26068938 PMID:26294094 PMID:26489029 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:32173348 PMID:33323469 PMID:33532864 PMID:33547761 PMID:33875766 PMID:36263627 PMID:9536098


    • An association has been curated linking Ttc21b and asphyxiating thoracic dystrophy in Rattus norvegicus.        

  • 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 TTC21B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 228 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 5 papers in RGD have been used to annotate Ttc21b
  • Curation Notes: ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome
  • Original References(s): PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18414213 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:22773737 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24033266 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25640679 PMID:25741868 PMID:26068938 PMID:26294094 PMID:26489029 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:32173348 PMID:33323469 PMID:33532864 PMID:33547761 PMID:33875766 PMID:9536098


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