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GENE - TERM ANNOTATION REPORT

30 Annotations Found.

An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8597640 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma
  • 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 Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151661312 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma
  • Original References(s): PMID:21815720 PMID:23218183 PMID:25741868 PMID:25950505 PMID:27060699 PMID:29556725


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:127292364 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma
  • Original References(s): PMID:11980847 PMID:15037581 PMID:16384942 PMID:17563717 PMID:25741868 PMID:25978063


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11655810 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11635088 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11634673 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11647115 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11655954 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11652354 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11589657 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11582459 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11654009 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11635035 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11591221 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11590524 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11592321 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11593273 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8597638 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma
  • Original References(s): PMID:10655546 PMID:17591938 PMID:18852424 PMID:19234632 PMID:25261878 PMID:25741868 PMID:27243976 PMID:27508083 PMID:28492532 PMID:32860008 PMID:9463332


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Original References(s): OMIM:600975


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:150420614 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:14693665 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma
  • Original References(s): PMID:17363580 PMID:21850185 PMID:22942166 PMID:25741868 PMID:27243976 PMID:28492532 PMID:31024815


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151663008 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma
  • Original References(s): PMID:11184479 PMID:12525557 PMID:18622259 PMID:18852424 PMID:19195637 PMID:20151268 PMID:21850185 PMID:25741868 PMID:28492532 PMID:30662834


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:156160603 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma
  • Original References(s): PMID:10655546 PMID:14635112 PMID:15037581 PMID:19234632 PMID:20664688 PMID:21815720 PMID:23218183 PMID:25741868 PMID:25826643 PMID:28492532


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151816449 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma
  • Original References(s): PMID:11558822 PMID:20057908 PMID:20827438 PMID:21572728 PMID:23218701 PMID:25091052 PMID:25741868 PMID:28492532 PMID:36076309


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8597646 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma
  • Original References(s): PMID:14635112 PMID:15342693 PMID:28492532


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8597641 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma
  • Original References(s): PMID:11403040 PMID:12036985 PMID:12372064 PMID:19204079 PMID:19234632 PMID:21168818 PMID:24940937 PMID:28492532 PMID:9463332


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11589050 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma
  • Original References(s): PMID:14507861 PMID:15037581 PMID:15255109 PMID:18537981 PMID:19536304 PMID:21081970 PMID:21854771 PMID:23218701 PMID:25741868 PMID:27508083 PMID:28492532 PMID:30108387 PMID:32830442


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:401797288 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma
  • Original References(s): PMID:19234632 PMID:21815720 PMID:23218701 PMID:25741868 PMID:25952714 PMID:27060699 PMID:28492532 PMID:35170016


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151663009 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma
  • Original References(s): PMID:11184479 PMID:21850185 PMID:23922489 PMID:25741868 PMID:27820421 PMID:28492532 PMID:35085548


  • An association has been curated linking CYP1B1 and Primary congenital glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:34891279 (Homo sapiens)
  • 8 RGD objects have been annotated to Primary congenital glaucoma  (HP:0008007)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: ClinVar Annotator: match by term: Primary congenital glaucoma
  • Original References(s): PMID:17224759 PMID:17591938 PMID:18622259 PMID:20664688 PMID:21306220 PMID:24227805 PMID:25741868 PMID:26550445 PMID:27243976 PMID:28492532


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