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GENE - TERM ANNOTATION REPORT

RGD ID: 10439
Species: Mus musculus
RGD Object: Gene
Symbol: Cyp1b1
Name: cytochrome P450, family 1, subfamily b, polypeptide 1
Acc ID: DOID:1070
Term: primary open angle glaucoma
Definition: An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464971/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Cyp1b1severityISOCYP1B1 (Homo sapiens)7800664RGDDNA:snp:cds:p.N453S (human) 
Cyp1b1susceptibilityISOCYP1B1 (Homo sapiens)7800658RGDDNA:snp:cds:p.L432V (human) 
Cyp1b1susceptibilityISOCYP1B1 (Homo sapiens)7800695RGDDNA:missense mutations:exons:p.P193L, p.E229K, p.M292K (human) 
Cyp1b1susceptibilityISOCYP1B1 (Homo sapiens)7800696RGDDNA:snp, missense mutations, haplotype:promoter, cds:multiple (human) 
Cyp1b1 ISOCYP1B1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Primary open angle glaucomaPMID:10655546 PMID:15342693 PMID:18470941 PMID:19234632 PMID:22004014 PMID:24281366 PMID:25741868 PMID:26550445 PMID:27508083 PMID:27777502 PMID:28492532 PMID:30520782
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