CYP1B1
HGNC:2597 · 46 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “First, CYP1B1 functions as the dominant causal gene across both primary congenital glaucoma (PCG) and juvenile-onset open-angle glaucoma (JOAG), accounting for 76-86% of cases, with two founder alleles, p.G61E (penetrance 87.7%) and p.R469W (penetrance 93%), driving severe, early-onset phenotypes.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “The most enriched cancer-linked target genes were PLCG1, BCL2, CYP1B1, NSD2, and ESR2.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “A prioritization strategy was employed to identify variants in known PCG-related genes, primarily focusing on CYP1B1.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “The study identified a total of five genes (CDKN1A, DKK1, CYP1B1, NTS, and GDF15) that were differentially expressed in OC.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “The present study has been conducted to screen 25 POAG families with 2 or more affected members for their association with Myoc and CYP1B1 (the most common gene in primary congenital glaucoma).” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Mutational analysis of CYP1B1 (rs56010818) variant in primary open angle glaucoma (POAG) affected patients of Pakistan.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Variants in CYP1B1 gene are the most encountered in PCG cases.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Biological and Clinical Implications of TNF-α Promoter and CYP1B1 Gene Variations in Coronary Artery Disease Susceptibility.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Arnold-Chiari Malformation Type II and CYP1B1 Congenital Glaucoma: A Possible Association.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Of the top 15 proteins found by Cytoscape 3.6.1, 8, CAT and OGG1 (downregulated) and CASP3, COMT, CYP1B1, DPYD, NQO1, and PTGS1 (upregulated), were dysregulated in diabetes-related kidney disease.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “The loss of microglia activities facilitates glaucoma progression in association with CYP1B1 gene mutation (p.Gly61Glu).” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “CYP1B1 gene: Implications in glaucoma and cancer.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Further genetic testing showed no mutations in the CYP1B1 gene.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Congenital glaucoma and CYP1B1: an old story revisited.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Therefore, this study aims to determine if there is any single nucleotide polymorphism (SNP) within CYP19A1, CYP2C19, CYP2C9, CYP1B1, CYP3A4, and CYP1A2 genes associated with BC in the Jordanian population.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Also, he was diagnosed as having congenital glaucoma with CYP1B1 mutation, homozygous recessive.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “In this review, we discuss some of the most clinically important CYPs isoforms (CYP2D6, CYP2A6, CYP2C19, CYP2C9, CYP1B1 and CYP1A2) with respect to gene polymorphisms and drug metabolism.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Dasatinib induces gene expression of CYP1A1, CYP1B1, and cardiac hypertrophy markers (BNP, β-MHC) in rat cardiomyocyte H9c2 cells.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “RESULTS: We identified 42 smoking-methylation and 42 smoking-expression signals, where five genes (AHRR, CYP1A1, CYP1B1, CYTL1, F2RL3) were both hypo-methylated and upregulated in current smokers.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “There was found a relationship between autism severity on the CARS scale and the levels of 25(OH)D3 and CYP1B1.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “METHODS: CYP1B1 sequencing in the affected child; high-resolution array comparative genomic hybridization (array CGH) of the affected child and both unaffected parents (Affymetrix Cytogenetics Whole-Genome 2.7M array; Affymetrix Inc., Santa Clara, CA, USA).” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “A novel CYP1B1 mutation with congenital glaucoma and total aniridia.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Interestingly, RT-PCR showed that leptin significantly up-regulated the expression of aromatase and cytochrome P450 1B1 (CYP1B1) enzymes; however down-regulated the expression of catechol-o-methyltransferase (COMT) enzyme.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Mutations of the CYP1B1 gene in congenital anterior staphylomas.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Genetic testing revealed a common homozygous CYP1B1 mutation in one (p.Gly61Glu) and a novel heterozygous FOXC1 deletion in the other (p.Tyr81_Pro95del).” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “If PAX6 analysis was negative, the following were performed: candidate gene sequencing (forkhead box C1 [FOXC1], paired-like homeodomain transcription factor 2 [PITX2], cytochrome P450, family 1, subfamily B [CYP1B1], paired-like homeodomain transcription factor 3 [PITX3], and v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog [MAF]) and molecular karyotyping by array competitive genomic hybridization (250K single nucleotide polymorphism (SNP) arrays).” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “All had CYP1B1 sequencing.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “RECENT FINDINGS: Mutations in CYP1B1, in addition to being the most common identifiable cause of autosomal recessive primary congenital/infantile glaucoma, can infrequently underlie juvenile and even primary adult-onset open-angle glaucoma, particularly in certain consanguineous populations.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Congenital glaucoma: CYP1B1 mutations in Israeli Bedouin kindreds.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “PURPOSE: To undertake mutation screening of cytochrome P4501B1 (CYP1B1, OMIM 601771) and myocilin (MYOC, OMIM 601652) genes in Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “PURPOSE: To report the spectrum of the CYP1B1 mutation in Kuwaiti patients with primary congenital glaucoma (PCG).” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “PURPOSE: Primary congenital glaucoma (PCG) is an autosomal recessive ocular trait caused by mutations in the gene for cytochrome P4501B1 (CYP1B1).” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Mutations in cytochrome P4501B1 (CYP1B1) are the most common cause of PCG in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.” | 0.98 | hgnc_dict_v1 |
| gene | CYP1B1 | “Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |