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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking RAPSN and fetal akinesia deformation sequence syndrome 2 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 RAPSN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to fetal akinesia deformation sequence syndrome 2  (DOID:0111378)
  • 0 papers in RGD have been used to annotate RAPSN
  • Curation Notes: ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2
  • Original References(s): PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 PMID:12807980 PMID:12929188 PMID:14504330 PMID:14659409 PMID:14729848 PMID:15036330 PMID:15145336 PMID:15282317 PMID:15286164 PMID:15328566 PMID:15482960 PMID:16199547 PMID:16770791 PMID:16931511 PMID:16945936 PMID:17190963 PMID:17594401 PMID:17686188 PMID:17878953 PMID:18179903 PMID:18252226 PMID:19620612 PMID:20157724 PMID:20301347 PMID:20562457 PMID:20930056 PMID:21228398 PMID:21305573 PMID:21520333 PMID:22326364 PMID:2245297 PMID:22678886 PMID:24033266 PMID:24319099 PMID:25194721 PMID:25264167 PMID:25741868 PMID:25741902 PMID:26147564 PMID:26467025 PMID:26782015 PMID:26910802 PMID:26927095 PMID:28492532 PMID:28495245 PMID:29053879 PMID:29054425 PMID:29189923 PMID:29478601 PMID:30124556 PMID:30266223 PMID:31127727 PMID:31216405 PMID:31680123 PMID:32070632 PMID:32528171 PMID:33255631 PMID:34106991 PMID:34218205 PMID:34302381 PMID:34565654 PMID:35982159 PMID:35982160 PMID:36307859


    • An association has been curated linking RAPSN and fetal akinesia deformation sequence syndrome 2 in Sus scrofa.        

  • 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 RAPSN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to fetal akinesia deformation sequence syndrome 2  (DOID:0111378)
  • 0 papers in RGD have been used to annotate RAPSN


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