Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

19 Annotations Found.

An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by OMIM:267750
  • Original References(s): PMID:14695535 PMID:1554013


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by OMIM:267750
  • Original References(s): PMID:21937992


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by OMIM:267750
  • Original References(s): PMID:17975799 PMID:20979194


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by term: RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE
  • Original References(s): PMID:23667181 PMID:25741868


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by OMIM:267750
  • Original References(s): PMID:12415512 PMID:19160445 PMID:20799329


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by OMIM:267750
  • Original References(s): PMID:17546652


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by OMIM:267750
  • Original References(s): PMID:10942434


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by OMIM:267750


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by term: Knobloch syndrome
  • Original References(s): PMID:25741868


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by term: Knobloch syndrome
  • Original References(s): PMID:26467025


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by term: Knobloch syndrome 1
  • Original References(s): PMID:25741868 PMID:32860008


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by term: Knobloch syndrome 1
  • Original References(s): PMID:25456301


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by term: Knobloch syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by term: Knobloch syndrome 1
  • Original References(s): PMID:14695535 PMID:25741868 PMID:26467025


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by term: Knobloch syndrome
  • Original References(s): PMID:25741868 PMID:26467025


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by term: Knobloch syndrome 1
  • Original References(s): PMID:24033266


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by term: Knobloch syndrome 1
  • Original References(s): PMID:19390655 PMID:21862674 PMID:23667181 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29977801


  • An association has been curated linking Col18a1 and Knobloch Syndrome 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Knobloch Syndrome  (DOID:9002033)
  • 19 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by term: Knobloch syndrome 1
  • Original References(s): PMID:30007336


  • Go Back to source page   Continue to Ontology report