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GENE - TERM ANNOTATION REPORT

49 Annotations Found.

An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:28492532


  • An association has been curated linking Cyp1b1 and buphthalmos in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Hilal L, etal., Mol Vis. 2010 Jul 2;16:1215-26.
  • The annotation has been inferred from sequence orthology with CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 additional annotations were made from Hilal L, etal., Mol Vis. 2010 Jul 2;16:1215-26.
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Qualifier: susceptibility
  • Curation Notes: DNA:deletion, snp:exons:g.4339delG, p.G61E (human)


  • An association has been curated linking Cyp1b1 and buphthalmos in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Milla E, etal., Mol Vis. 2013 Aug 4;19:1707-22. Print 2013.
  • The annotation has been inferred from sequence orthology with CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Milla E, etal., Mol Vis. 2013 Aug 4;19:1707-22. Print 2013.
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Qualifier: susceptibility
  • Curation Notes: DNA:polymorphisms:multiple (human)


  • An association has been curated linking Cyp1b1 and buphthalmos in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Libby RT, etal., Science 2003 Mar 7;299(5612):1578-81.
  • The annotation has been inferred from sequence orthology with Cyp1b1 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Libby RT, etal., Science 2003 Mar 7;299(5612):1578-81.
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1


  • An association has been curated linking Cyp1b1 and buphthalmos in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from El-Gayar S, etal., Mol Vis. 2009 Jul 8;15:1325-31.
  • The annotation has been inferred from sequence orthology with CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 additional annotations were made from El-Gayar S, etal., Mol Vis. 2009 Jul 8;15:1325-31.
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Qualifier: susceptibility
  • Curation Notes: DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human)


  • An association has been curated linking Cyp1b1 and buphthalmos in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Bar-Yosef U, etal., J Glaucoma. 2010 Jan;19(1):35-8. doi: 10.1097/IJG.0b013e3181a98b6f.
  • The annotation has been inferred from sequence orthology with CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Bar-Yosef U, etal., J Glaucoma. 2010 Jan;19(1):35-8. doi: 10.1097/IJG.0b013e3181a98b6f.
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: DNA:missense mutations:exons:p.G61E, p.R469W, p.R523K (human)


  • An association has been curated linking Cyp1b1 and buphthalmos in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Plasilova M, etal., J Med Genet. 1999 Apr;36(4):290-4.
  • The annotation has been inferred from sequence orthology with CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Plasilova M, etal., J Med Genet. 1999 Apr;36(4):290-4.
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Qualifier: susceptibility
  • Curation Notes: DNA:snp:cds:p.E387K (human)


  • An association has been curated linking Cyp1b1 and buphthalmos in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Soley GC, etal., J Glaucoma. 2003 Feb;12(1):27-30.
  • The annotation has been inferred from sequence orthology with CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Soley GC, etal., J Glaucoma. 2003 Feb;12(1):27-30.
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: DNA:duplication:exon:g.1546-1555dupTCATGCCACC (human)


  • An association has been curated linking Cyp1b1 and buphthalmos in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Yang M, etal., Mol Vis. 2009;15:432-7. Epub 2009 Feb 27.
  • The annotation has been inferred from sequence orthology with CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Yang M, etal., Mol Vis. 2009;15:432-7. Epub 2009 Feb 27.
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: DNA:missense mutation, deletion:exon:p.R390H, g.4633delC (human)


  • An association has been curated linking Cyp1b1 and buphthalmos in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Alfadhli S, etal., Am J Ophthalmol. 2006 Mar;141(3):512-6.
  • The annotation has been inferred from sequence orthology with CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Alfadhli S, etal., Am J Ophthalmol. 2006 Mar;141(3):512-6.
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: DNA:missense mutation:cds:p.A388T (human)


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:20151268 PMID:25741868


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:10227395 PMID:15342693 PMID:16735994 PMID:18227148 PMID:18414103 PMID:18537981 PMID:21081970 PMID:21600657 PMID:21854771 PMID:23218183 PMID:23218701 PMID:24033266 PMID:25109919 PMID:25741868 PMID:27243976 PMID:27272408 PMID:27820421 PMID:28492532 PMID:32832252 PMID:94927261 PMID:9497261


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by OMIM:231300
  • Original References(s): PMID:9097971


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
  • Original References(s): PMID:25741868


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
  • Original References(s): PMID:23218183 PMID:27060699


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:19597567 PMID:9463332


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:11527932 PMID:18852424 PMID:24940937 PMID:27243976 PMID:27508083 PMID:28192799 PMID:28492532 PMID:32499604


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:19234632 PMID:19807744


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
  • Original References(s): PMID:32832252


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:12372064


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset
  • Original References(s): PMID:15342693


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
  • Original References(s): PMID:17591938 PMID:19234632 PMID:23922489 PMID:24281366 PMID:25741868 PMID:27272408 PMID:28448622 PMID:28492532 PMID:32499604 PMID:32832252 PMID:9497261


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:12372064 PMID:18470941 PMID:19234632 PMID:19597567 PMID:19793111 PMID:25741868 PMID:27243976 PMID:28492532 PMID:9463332 PMID:9497261


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:9497261


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:11403040 PMID:12036985 PMID:19643970 PMID:22004014 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:25741868 PMID:27820421 PMID:28492532 PMID:32499604


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Congenital glaucoma
  • Original References(s): PMID:17164573 PMID:19247456 PMID:28492532


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:18852424 PMID:25741868 PMID:28492532


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
  • Original References(s): PMID:11558822 PMID:21854771 PMID:24281366 PMID:25741868


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
  • Original References(s): PMID:15037581 PMID:15255109 PMID:18537981 PMID:21081970 PMID:21854771


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
  • Original References(s): PMID:11558822 PMID:11854439 PMID:12036985 PMID:15342693 PMID:16862072 PMID:22128238 PMID:28492532


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
  • Original References(s): PMID:10739169 PMID:16384942 PMID:25741868


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
  • Original References(s): PMID:10910054 PMID:25741868


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
  • Original References(s): PMID:10426814 PMID:25741868


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:11527932 PMID:21850185 PMID:22942166 PMID:25527694 PMID:25741868 PMID:26550974


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
  • Original References(s): PMID:21850185 PMID:27243976


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:15342693 PMID:18470941 PMID:19234632 PMID:22004014 PMID:24281366 PMID:28492532


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:12372064 PMID:19234632 PMID:23922489 PMID:27272408 PMID:27777502 PMID:27820421 PMID:28492532 PMID:32832252


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
  • Original References(s): PMID:25741868 PMID:32860008 PMID:9463332


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:16735994 PMID:23218701 PMID:25741868 PMID:28448622 PMID:28492532 PMID:32832252 PMID:9097971


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset
  • Original References(s): PMID:17363580 PMID:19234632 PMID:19643970 PMID:19793111 PMID:21815720


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
  • Original References(s): PMID:20198978


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
  • Original References(s): PMID:25091052 PMID:25646030


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:15342693 PMID:20664688 PMID:25950505 PMID:28492532


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
  • Original References(s): PMID:25527694


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma, congenital
  • Original References(s): PMID:25646030 PMID:28492532


  • An association has been curated linking Cyp1b1 and buphthalmos 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 CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to buphthalmos  (DOID:11211)
  • 54 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
  • Original References(s): PMID:10655546 PMID:11774072 PMID:11980847 PMID:14507861 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18622259 PMID:19204079 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:23028769 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25978063 PMID:27243976 PMID:27408750 PMID:27508083 PMID:27535533 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30653986 PMID:30788381


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