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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Ercc2 and cerebrooculofacioskeletal syndrome 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Graham JM Jr, etal., Am J Hum Genet. 2001 Aug;69(2):291-300. Epub 2001 Jul 3.
  • The annotation has been inferred from sequence orthology with ERCC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Graham JM Jr, etal., Am J Hum Genet. 2001 Aug;69(2):291-300. Epub 2001 Jul 3.
  • 2 RGD objects have been annotated to cerebrooculofacioskeletal syndrome 2  (DOID:0080912)
  • 80 papers in RGD have been used to annotate Ercc2
  • Curation Notes: DNA:missense mutations:p.R616W, p.D681N (human)


  • An association has been curated linking Ercc2 and cerebrooculofacioskeletal syndrome 2 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 ERCC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to cerebrooculofacioskeletal syndrome 2  (DOID:0080912)
  • 80 papers in RGD have been used to annotate Ercc2


  • An association has been curated linking Ercc2 and cerebrooculofacioskeletal syndrome 2 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 ERCC2 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to cerebrooculofacioskeletal syndrome 2  (DOID:0080912)
  • 80 papers in RGD have been used to annotate Ercc2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking Ercc2 and cerebrooculofacioskeletal syndrome 2 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 ERCC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to cerebrooculofacioskeletal syndrome 2  (DOID:0080912)
  • 80 papers in RGD have been used to annotate Ercc2
  • Curation Notes: ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
  • Original References(s): PMID:10447254 PMID:11156600 PMID:11242112 PMID:11335038 PMID:11443545 PMID:11585917 PMID:11709541 PMID:11710928 PMID:11734544 PMID:12116233 PMID:12820975 PMID:15494306 PMID:15534626 PMID:15982307 PMID:16054878 PMID:16135823 PMID:16199547 PMID:17576681 PMID:18470933 PMID:18510924 PMID:18510925 PMID:18578568 PMID:18637129 PMID:18709642 PMID:19085937 PMID:19434073 PMID:19470925 PMID:19931493 PMID:19934020 PMID:20633800 PMID:20944642 PMID:22234153 PMID:22826098 PMID:23039039 PMID:23221806 PMID:23232694 PMID:23382212 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24418926 PMID:24448499 PMID:24514865 PMID:24728327 PMID:25002996 PMID:25431422 PMID:25620205 PMID:25716912 PMID:25741868 PMID:26344056 PMID:26556299 PMID:26577220 PMID:26884178 PMID:26957611 PMID:26993158 PMID:27004399 PMID:27396511 PMID:27504877 PMID:27607234 PMID:28492532 PMID:28749383 PMID:29141312 PMID:29169765 PMID:29478780 PMID:29607586 PMID:29754767 PMID:30919937 PMID:31282071 PMID:31803976 PMID:31937902 PMID:32047639 PMID:32191290 PMID:32830346 PMID:32974964 PMID:33095795 PMID:33199492 PMID:3341805 PMID:34308104 PMID:35477182 PMID:36033485 PMID:7585650 PMID:7825573 PMID:7920640 PMID:8571952 PMID:9101292 PMID:9195225 PMID:9238033 PMID:9536098 PMID:9651581 PMID:9758621


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