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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Dync2h1 and asphyxiating thoracic dystrophy 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with DYNC2H1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to asphyxiating thoracic dystrophy 3  (DOID:0110087)
  • 14 papers in RGD have been used to annotate Dync2h1


    • An association has been curated linking Dync2h1 and asphyxiating thoracic dystrophy 3 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 DYNC2H1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to asphyxiating thoracic dystrophy 3  (DOID:0110087)
  • 14 papers in RGD have been used to annotate Dync2h1
  • Curation Notes: ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: DYNC2H1-Related Disorder | ClinVar Annotator: match by term: DYNC2H1-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly
  • Original References(s): PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 PMID:21211617 PMID:22499340 PMID:23339108 PMID:23456818 PMID:24033266 PMID:24123776 PMID:24183451 PMID:24759409 PMID:25326635 PMID:25356970 PMID:25410398 PMID:25492405 PMID:25741868 PMID:25741887 PMID:25741891 PMID:25741905 PMID:25741914 PMID:25741915 PMID:26489029 PMID:26826164 PMID:26874042 PMID:26938784 PMID:27353043 PMID:27925158 PMID:28492532 PMID:28832562 PMID:28973083 PMID:29068549 PMID:29453417 PMID:29947050 PMID:30190612 PMID:30655312 PMID:30773290 PMID:31415973 PMID:31730820 PMID:31935347 PMID:31943948 PMID:32494556 PMID:32753734 PMID:33532864 PMID:33694158 PMID:33755199 PMID:33875766 PMID:34040173 PMID:34740920 PMID:34853893 PMID:34958143 PMID:35587316 PMID:35627109 PMID:35929941 PMID:36352425 PMID:36599940 PMID:36797717 PMID:37091781 PMID:6938784 PMID:9536098


    • An association has been curated linking Dync2h1 and asphyxiating thoracic dystrophy 3 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 DYNC2H1 (Homo sapiens) [(EXP) inferred from experiment]
  • 10 RGD objects have been annotated to asphyxiating thoracic dystrophy 3  (DOID:0110087)
  • 14 papers in RGD have been used to annotate Dync2h1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Dync2h1 and asphyxiating thoracic dystrophy 3 in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Dync2h1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to asphyxiating thoracic dystrophy 3  (DOID:0110087)
  • 14 papers in RGD have been used to annotate Dync2h1
  • Curation Notes: OMIM:613091


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