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GENE - TERM ANNOTATION REPORT

9 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.
  • 1 RGD objects have been annotated to Cerebrooculofacioskeletal Syndrome 2  (DOID:9007127)
  • 74 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 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]
  • 1 RGD objects have been annotated to Cerebrooculofacioskeletal Syndrome 2  (DOID:9007127)
  • 74 papers in RGD have been used to annotate Ercc2
  • Curation Notes: ClinVar Annotator: match by OMIM:610756
  • Original References(s): PMID:11443545


  • 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]
  • 1 RGD objects have been annotated to Cerebrooculofacioskeletal Syndrome 2  (DOID:9007127)
  • 74 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 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]
  • 1 RGD objects have been annotated to Cerebrooculofacioskeletal Syndrome 2  (DOID:9007127)
  • 74 papers in RGD have been used to annotate Ercc2
  • Curation Notes: ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
  • Original References(s): PMID:24728327, PMID:25741868


  • 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]
  • 1 RGD objects have been annotated to Cerebrooculofacioskeletal Syndrome 2  (DOID:9007127)
  • 74 papers in RGD have been used to annotate Ercc2
  • Curation Notes: ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
  • Original References(s): PMID:11443545, PMID:9238033


  • 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]
  • 1 RGD objects have been annotated to Cerebrooculofacioskeletal Syndrome 2  (DOID:9007127)
  • 74 papers in RGD have been used to annotate Ercc2
  • Curation Notes: ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
  • Original References(s): PMID:25741868


  • 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]
  • 1 RGD objects have been annotated to Cerebrooculofacioskeletal Syndrome 2  (DOID:9007127)
  • 74 papers in RGD have been used to annotate Ercc2
  • Curation Notes: ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
  • Original References(s): PMID:20944642, PMID:23232694, PMID:25620205, PMID:25741868, PMID:7920640, PMID:8571952, PMID:9238033


  • 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]
  • 1 RGD objects have been annotated to Cerebrooculofacioskeletal Syndrome 2  (DOID:9007127)
  • 74 papers in RGD have been used to annotate Ercc2
  • Curation Notes: ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
  • Original References(s): PMID:11156600, PMID:11443545, PMID:15494306, PMID:18470933, PMID:18603627, PMID:18628313, PMID:22826098, PMID:25716912, PMID:25741868, PMID:27745642, PMID:7585650, PMID:7920640, PMID:8571952, PMID:9101292, PMID:9238033


  • 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]
  • 1 RGD objects have been annotated to Cerebrooculofacioskeletal Syndrome 2  (DOID:9007127)
  • 74 papers in RGD have been used to annotate Ercc2
  • Curation Notes: ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
  • Original References(s): PMID:11710928, PMID:12820975, PMID:18637129, PMID:22826098, PMID:23221806, PMID:23800062, PMID:24033266, PMID:24252196, PMID:24448499, PMID:25741868, PMID:26556299, PMID:27004399, PMID:29478780, PMID:7920640, PMID:8571952, PMID:9238033


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.