CYP1B1

Summary

CYP1B1 (cytochrome P450 family 1 subfamily B member 1, HGNC:2597) is a protein-coding gene on chromosome 2p22.2, encoding Cytochrome P450 1B1 (Q16678). A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins.

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid.

Source: NCBI Gene 1545 — RefSeq curated summary.

At a glance

• Gene–disease (curated): CYP1B1-related glaucoma with or without anterior segment dysgenesis (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 14
• Clinical variants (ClinVar): 599 total — 56 pathogenic, 53 likely-pathogenic
• Phenotypes (HPO): 48
• Druggable target: yes — 22 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_000104

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2597
Approved symbol	CYP1B1
Name	cytochrome P450 family 1 subfamily B member 1
Location	2p22.2
Locus type	gene with protein product
Status	Approved
Aliases	CP1B
Ensembl gene	ENSG00000138061
Ensembl biotype	protein_coding
OMIM	601771
Entrez	1545

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 10 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000490576, ENST00000491456, ENST00000492443, ENST00000494864, ENST00000610745, ENST00000613082, ENST00000614273, ENST00000714520, ENST00000860003, ENST00000948951, ENST00000948952, ENST00000948953, ENST00000948954

RefSeq mRNA: 1 — MANE Select: NM_000104 NM_000104

CCDS: CCDS1793

Canonical transcript exons

ENST00000610745 — 3 exons

Exon	Start	End
ENSE00003724268	38075780	38076151
ENSE00003734480	38074346	38075389
ENSE00003738364	38067509	38071310

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 99.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.6675 / max 622.1733, expressed in 1279 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
27849	21.3859	1253
27848	1.4745	535
27847	0.4971	241
27845	0.1992	94
27846	0.1107	46

Top tissues by expression

291 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pericardium	UBERON:0002407	99.62	gold quality
cartilage tissue	UBERON:0002418	99.30	gold quality
synovial joint	UBERON:0002217	99.08	gold quality
trigeminal ganglion	UBERON:0001675	98.89	gold quality
dorsal root ganglion	UBERON:0000044	98.86	gold quality
layer of synovial tissue	UBERON:0007616	98.76	gold quality
tendon of biceps brachii	UBERON:0008188	98.20	gold quality
superficial temporal artery	UBERON:0001614	97.99	gold quality
hair follicle	UBERON:0002073	97.88	gold quality
urethra	UBERON:0000057	97.71	gold quality
cauda epididymis	UBERON:0004360	96.50	gold quality
trachea	UBERON:0003126	96.26	gold quality
seminal vesicle	UBERON:0000998	96.24	gold quality
penis	UBERON:0000989	95.72	gold quality
nipple	UBERON:0002030	95.61	gold quality
cardia of stomach	UBERON:0001162	95.34	gold quality
heart right ventricle	UBERON:0002080	95.15	gold quality
choroid plexus epithelium	UBERON:0003911	95.06	gold quality
parietal pleura	UBERON:0002400	94.96	gold quality
olfactory bulb	UBERON:0002264	94.75	gold quality
trabecular bone tissue	UBERON:0002483	94.51	gold quality
pleura	UBERON:0000977	94.48	gold quality
mammary duct	UBERON:0001765	94.16	gold quality
renal medulla	UBERON:0000362	94.00	gold quality
tibia	UBERON:0000979	93.97	gold quality
monocyte	CL:0000576	93.96	gold quality
caput epididymis	UBERON:0004358	93.85	gold quality
mononuclear cell	CL:0000842	93.79	gold quality
vena cava	UBERON:0004087	93.78	gold quality
leukocyte	CL:0000738	93.57	gold quality

Single-cell (SCXA)

Detected in 13 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-MTAB-11121	yes	1545.15
E-MTAB-8142	yes	1318.74
E-MTAB-10283	yes	1026.37
E-GEOD-114530	yes	956.81
E-GEOD-124472	yes	819.39
E-HCAD-10	yes	522.26
E-GEOD-135922	yes	49.65
E-GEOD-134144	yes	38.22
E-HCAD-4	yes	22.02
E-CURD-112	yes	11.17
E-MTAB-9543	yes	7.70
E-MTAB-6108	no	929.68
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AHR, AR, ARNT, BRCA1, CREB1, EP300, ESR1, ESR2, KAT2B, NR5A1, PARP1, PAX6, SP1, TBP, TCF3

miRNA regulators (miRDB)

141 targeting CYP1B1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-6772-5P	99.94	67.01	577

Literature-anchored findings (GeneRIF, showing 40)

• mutations in a patient with Peters’ anomaly (PMID:11403040)
• CYP1B1 mutations for congenital glaucoma (PMID:11558822)
• Investigators examining possible associations between early menarche and mutations in genes of estrogen metabolism found no such association for this gene. (PMID:11749050)
• digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene (PMID:11774072)
• airborne particulates generated during the frying of beef, fish and pork can induce carcinogen-metabolizing CYP1B1 in the human lung-derived cell line (PMID:11955671)
• CYP1B1 polymorphism in prostate neoplasms (PMID:12200121)
• CYP1B1 mRNA is expressed in human liver and the levels are increased in smokers, but the protein is undetectable. (PMID:12520071)
• CYP1B1 gene is a major gene associated with primary congenital glaucoma (GLC3A). (PMID:12525557)
• The phenotypic expression of 3 patients confirm the crucial role of CYP1B1 mutations for congenital glaucoma. (PMID:12567107)
• High-activity CYP1A2 and CYP1B1 alleles, whose gene products metabolize estradiol, were not associated with pubertal stage. (PMID:12692107)
• polymorphism and risk of endometrial cancer (PMID:12770747)
• Single amino acid mutations, but not common polymorphisms, decrease the activity of CYP1B1 against (-)benzo[a]pyrene-7R-trans-7,8-dihydrodiol. (PMID:12807732)
• CYP1B1 is a senescence-associated gene in normal human oral keratinocytes. (PMID:12837283)
• the studied CYP1B1 gene polymorphisms do not influence breast cancer risk overall but may modify the risk after long-term menopausal hormone use. (PMID:12844487)
• Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients. (PMID:14507861)
• Carriers of the CYP1B1 Ser allele had a statistically significant decreased risk of endometrial cancer. (PMID:14656940)
• Four founder mutations were identified in congenital glaucoma patients in two ethnically heterogeneous populations. (PMID:14729846)
• Single Nucleotide Polymorphisms of CYP1B1 is associated with breast cancer (PMID:14734460)
• Mutations in CYPIBI are not a major cause of PCG (primary congenital glaucoma) in this population and that at least one additional locus for this condition is responsible for most cases. (PMID:15255109)
• CYP1B1*3 does not have a role in ovarian cancer development in the Italian Caucasian population (PMID:15255550)
• CYP1B1 is induced in tobacco smoke-induced carcinogenesis in the aerodigestive tract. (PMID:15297370)
• Transcription factors with an affinity for Sp1 sites mediate transcriptional activation of the CYP1B1 gene in biotin-supplemented T cells, increasing the occurrence of single-stranded DNA breaks. (PMID:15333708)
• CYP1B1 mutations might pose a significant risk for early-onset primary open-angle glaucoma and might also modify glaucoma phenotype in patients who do not carry a MYOCILIN mutation (PMID:15342693)
• The number of full-term pregnancies and the CYP1B1-4 polymorphism are significant predictors of timing of natural menopause in Caucasian women. (PMID:15774541)
• cytochrome P450 1B1 (CYP1B1) is inhibited by coumarins, regardles of the CYP1B1 polymorphism (PMID:15861043)
• Methoxylated dietary flavonoids may be potent chemoprotectants by direct inhibition of CYP1B1/1A1 function and/or their protein expression in mouth mucosa and cancer. (PMID:15905203)
• CYP1B1 Leu(432)Val alone and in combination with Phase II enzyme polymorphisms was more strongly associated with increased lung cancer susceptibility among those with at least some household environmental tobacco smoke exposure (PMID:16051642)
• Hypomethylation of the CYP1B1 gene may play an important role in prostate cancer. (PMID:16115918)
• A common polymorphism in the CYP1B1 gene was associated with changes in urinary estrogen levels: both Caucasian and African-American women carrying the variant allele showed higher urinary metabolite ratios than women with the wild-type allele. (PMID:16207128)
• The common N453S coding variant of CYP1B1 is potentially a factor of severity in POAG patients. (PMID:16319821)
• The strong association of specific haplotypes with some predominant CYP1B1 mutations underlying primary congenital glaucoma (PCG) and the observed geographical clustering, may be useful for predictive testing. (PMID:16384942)
• The CYP1B1 mutation spectrum of Kuwaiti PCG (primary congenital glaucoma) patients is similar to that detected in the neighboring countries. (PMID:16490498)
• The frequency of mutations in the FOXC1, GJA1, PITX2, and CYP1B1 genes in this study were 25%, 12.5%, 0% and 0%, respectively. (PMID:16638984)
• On rare occasions CYP1B1 may be primarily responsible for juvenile primary open-angle glaucoma by possible monogenic association. (PMID:16688110)
• This study supports the role of CYP1B1 as a causative gene in Peters anomaly. Furthermore, this emphasizes the broad range of phenotypic expression for CYP1B1 mutations, and its role in eye development. (PMID:16735991)
• Founder effects for most of CYP1B1 mutations. (PMID:16735994)
• The results from this study suggested that CYP1B1 genetic polymorphisms may be associated with the natural onset of menopause. (PMID:16766147)
• Strong evidence against the existence of a substantial overall association between common genetic variation in CYP1B1 and breast cancer risk. (PMID:16847423)
• Heterozygous CYP1B1 mutations could confer increased susceptibility to the development of primary open angle glaucoma in the Spanish population. (PMID:16862072)
• The urinary levels of estradiola nd estrogen metabolites associated with polymorphisms of CYP1A1 AND CYP1B1 in premenopausal/perimenopausal women are reported. (PMID:16949388)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cyp1b1	ENSDARG00000068934
mus_musculus	Cyp1b1	ENSMUSG00000024087
rattus_norvegicus	Cyp1b1	ENSRNOG00000040287

Paralogs (2): CYP1A1 (ENSG00000140465), CYP1A2 (ENSG00000140505)

Protein

Protein identifiers

Cytochrome P450 1B1 — Q16678 (reviewed: Q16678)

Alternative names: CYPIB1, Hydroperoxy icosatetraenoate dehydratase

All UniProt accessions (3): Q16678, A0A087WUQ7, A0A087WW26

UniProt curated annotations — full annotation on UniProt →

Function. A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH–hemoprotein reductase). Exhibits catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2- and 4-hydroxy E1 and E2. Displays a predominant hydroxylase activity toward E2 at the C-4 position. Metabolizes testosterone and progesterone to B or D ring hydroxylated metabolites. May act as a major enzyme for all-trans retinoic acid biosynthesis in extrahepatic tissues. Catalyzes two successive oxidative transformation of all-trans retinol to all-trans retinal and then to the active form all-trans retinoic acid. Catalyzes the epoxidation of double bonds of certain PUFA. Converts arachidonic acid toward epoxyeicosatrienoic acid (EpETrE) regioisomers, 8,9-, 11,12-, and 14,15- EpETrE, that function as lipid mediators in the vascular system. Additionally, displays dehydratase activity toward oxygenated eicosanoids hydroperoxyeicosatetraenoates (HpETEs). This activity is independent of cytochrome P450 reductase, NADPH, and O2. Also involved in the oxidative metabolism of xenobiotics, particularly converting polycyclic aromatic hydrocarbons and heterocyclic aryl amines procarcinogens to DNA-damaging products. Plays an important role in retinal vascular development. Under hyperoxic O2 conditions, promotes retinal angiogenesis and capillary morphogenesis, likely by metabolizing the oxygenated products generated during the oxidative stress. Also, contributes to oxidative homeostasis and ultrastructural organization and function of trabecular meshwork tissue through modulation of POSTN expression.

Subcellular location. Endoplasmic reticulum membrane. Microsome membrane. Mitochondrion.

Tissue specificity. Expressed in heart, brain, lung, skeletal muscle, kidney, spleen, thymus, prostate, testis, ovary, small intestine, colon, and peripheral blood leukocytes. Expressed in retinal endothelial cells and umbilical vein endothelial cells (at protein level).

Disease relevance. Anterior segment dysgenesis 6 (ASGD6) [MIM:617315] A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD6 patients predominantly manifest Peters anomaly. Peters anomaly consists of corneal leukoma, defects in the posterior structures of the cornea such as absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iridocorneal and/or keratolenticular adhesions. Over 50% of patients develop glaucoma in childhood. The disease is caused by variants affecting the gene represented in this entry. Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Glaucoma 1, open angle, A (GLC1A) [MIM:137750] A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. The gene represented in this entry acts as a disease modifier. Digenic mutations in CYP1B1 and MYOC have been found in a family segregating both primary adult-onset and juvenile forms of open angle glaucoma. All affected family members with mutations in both MYOC and CYP1B1 had juvenile glaucoma, whereas those with only the MYOC mutation had the adult-onset form.

Activity regulation. Enzyme activity is increased by liposomes containing anionic phospholipids, phosphatidic acid and cardiolipin. Inhibited by naringenin with an IC(50) of 5 uM. Enzyme activity is increased by cytochrome b5.

Induction. By polycyclic aromatic hydrocarbons (PAH) and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD).

Pathway. Steroid hormone biosynthesis. Cofactor metabolism; retinol metabolism. Lipid metabolism; arachidonate metabolism.

Polymorphism. Various CYP1B1 alleles are known. The sequence shown is that of allele CYP1B1*1.

Similarity. Belongs to the cytochrome P450 family.

RefSeq proteins (1): NP_000095* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001128	Cyt_P450	Family
IPR002401	Cyt_P450_E_grp-I	Family
IPR017972	Cyt_P450_CS	Conserved_site
IPR036396	Cyt_P450_sf	Homologous_superfamily

Pfam: PF00067

Catalyzed reactions (Rhea), 12 shown:

• an organic molecule + reduced [NADPH–hemoprotein reductase] + O2 = an alcohol + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:17149)
• (12S)-hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoate = 12-oxo-(5Z,8Z,10E,14Z)-eicosatetraenoate + H2O (RHEA:37947)
• all-trans-retinal + reduced [NADPH–hemoprotein reductase] + O2 = all-trans-retinoate + oxidized [NADPH–hemoprotein reductase] + H2O + 2 H(+) (RHEA:42088)
• all-trans-retinol + reduced [NADPH–hemoprotein reductase] + O2 = all-trans-retinal + oxidized [NADPH–hemoprotein reductase] + 2 H2O + H(+) (RHEA:42092)
• testosterone + reduced [NADPH–hemoprotein reductase] + O2 = 6beta,17beta-dihydroxyandrost-4-en-3-one + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:46296)
• estrone + reduced [NADPH–hemoprotein reductase] + O2 = 2-hydroxyestrone + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:47208)
• 17beta-estradiol + reduced [NADPH–hemoprotein reductase] + O2 = 2-hydroxy-17beta-estradiol + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:47212)
• progesterone + reduced [NADPH–hemoprotein reductase] + O2 = 6beta-hydroxyprogesterone + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:47252)
• progesterone + reduced [NADPH–hemoprotein reductase] + O2 = 16alpha-hydroxyprogesterone + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:47260)
• 17beta-estradiol + reduced [NADPH–hemoprotein reductase] + O2 = 4-hydroxy-17beta-estradiol + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:47280)
• estrone + reduced [NADPH–hemoprotein reductase] + O2 = 4-hydroxyestrone + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:47292)
• (5S)-hydroperoxy-(6E,8Z,11Z,14Z)-eicosatetraenoate = 5-oxo-(6E,8Z,11Z,14Z)-eicosatetraenoate + H2O (RHEA:48632)

UniProt features (102 total): sequence variant 63, helix 22, strand 10, turn 3, chain 1, binding site 1, site 1, mutagenesis site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3PM0	X-RAY DIFFRACTION	2.7
6IQ5	X-RAY DIFFRACTION	3.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q16678-F1	92.29	0.81

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 395 (major determinant of cyp1b1 17beta-estradiol hydroxylation regiospecificity)

Ligand- & substrate-binding residues (1): 470 (axial binding residue)

Mutagenesis-validated functional residues (1):

Position	Phenotype
395	invertes the 4oh e2:2oh e2 hydroxylation preference from 5.1 to 0.45.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-211976	Endogenous sterols
R-HSA-2142670	Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
R-HSA-2142816	Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
R-HSA-5579000	Defective CYP1B1 causes Glaucoma

MSigDB gene sets: 575 (showing top): MODULE_93, KOBAYASHI_EGFR_SIGNALING_24HR_UP, REACTOME_BIOLOGICAL_OXIDATIONS, GOBP_COLLAGEN_FIBRIL_ORGANIZATION, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, PAL_PRMT5_TARGETS_UP, MODULE_45, GOZGIT_ESR1_TARGETS_DN, CHUANG_OXIDATIVE_STRESS_RESPONSE_UP, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOBP_REGULATION_OF_HORMONE_LEVELS, REACTOME_ENDOGENOUS_STEROLS

GO Biological Process (41): angiogenesis (GO:0001525), trabecular meshwork development (GO:0002930), steroid catabolic process (GO:0006706), xenobiotic metabolic process (GO:0006805), nitric oxide biosynthetic process (GO:0006809), cell adhesion (GO:0007155), steroid metabolic process (GO:0008202), estrogen metabolic process (GO:0008210), negative regulation of cell population proliferation (GO:0008285), intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631), toxin metabolic process (GO:0009404), response to toxic substance (GO:0009636), positive regulation of vascular endothelial growth factor production (GO:0010575), sterol metabolic process (GO:0016125), arachidonate metabolic process (GO:0019369), epoxygenase P450 pathway (GO:0019373), collagen fibril organization (GO:0030199), negative regulation of cell migration (GO:0030336), obsolete negative regulation of NF-kappaB transcription factor activity (GO:0032088), negative regulation of cell adhesion mediated by integrin (GO:0033629), xenobiotic catabolic process (GO:0042178), benzene-containing compound metabolic process (GO:0042537), retinol metabolic process (GO:0042572), retinal metabolic process (GO:0042574), positive regulation of apoptotic process (GO:0043065), blood vessel endothelial cell migration (GO:0043534), endothelial cell migration (GO:0043542), positive regulation of angiogenesis (GO:0045766), positive regulation of receptor signaling pathway via JAK-STAT (GO:0046427), obsolete membrane lipid catabolic process (GO:0046466), blood vessel morphogenesis (GO:0048514), retinal blood vessel morphogenesis (GO:0061304), cellular response to hydrogen peroxide (GO:0070301), endothelial cell-cell adhesion (GO:0071603), omega-hydroxylase P450 pathway (GO:0097267), regulation of reactive oxygen species metabolic process (GO:2000377), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631), hormone metabolic process (GO:0042445), retina vasculature development in camera-type eye (GO:0061298)

GO Molecular Function (15): monooxygenase activity (GO:0004497), iron ion binding (GO:0005506), steroid hydroxylase activity (GO:0008395), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712), heme binding (GO:0020037), testosterone 6-beta-hydroxylase activity (GO:0050649), estrogen 16-alpha-hydroxylase activity (GO:0101020), estrogen 2-hydroxylase activity (GO:0101021), hydroperoxy icosatetraenoate dehydratase activity (GO:0106256), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705), lyase activity (GO:0016829), metal ion binding (GO:0046872)

GO Cellular Component (4): mitochondrion (GO:0005739), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Arachidonate metabolism	2
Cytochrome P450 - arranged by substrate type	1
Metabolic disorders of biological oxidation enzymes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
steroid metabolic process	3
monooxygenase activity	3
steroid hydroxylase activity	3
oxidoreductase activity	2
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	2
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	2
catalytic activity	2
cytoplasm	2
intracellular membrane-bounded organelle	2
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
tissue development	1
camera-type eye development	1
lipid catabolic process	1
metabolic process	1
cellular response to xenobiotic stimulus	1
biosynthetic process	1
nitric oxide metabolic process	1
cellular process	1
lipid metabolic process	1
hormone metabolic process	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
intrinsic apoptotic signaling pathway	1
secondary metabolic process	1
response to chemical	1
positive regulation of cytokine production	1
vascular endothelial growth factor production	1
regulation of vascular endothelial growth factor production	1
long-chain fatty acid metabolic process	1
icosanoid metabolic process	1
unsaturated fatty acid metabolic process	1
olefinic compound metabolic process	1
arachidonate metabolic process	1
extracellular matrix organization	1
cell migration	1
regulation of cell migration	1
negative regulation of cell motility	1
negative regulation of cell adhesion	1

Protein interactions and networks

STRING

2850 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CYP1B1	MYOC	Q99972	944
CYP1B1	PPIG	Q13427	910
CYP1B1	FOXC1	Q12948	849
CYP1B1	PITX2	Q99697	832
CYP1B1	WDR36	Q8NI36	813
CYP1B1	NQO1	P15559	794
CYP1B1	LTBP2	Q14767	788
CYP1B1	SULT1A1	P50225	747
CYP1B1	AHRR	A9YTQ3	746
CYP1B1	GSTP1	P09211	722
CYP1B1	COMT	P21964	720
CYP1B1	FOXQ1	Q9C009	713
CYP1B1	ARNT	P27540	706
CYP1B1	ASB10	Q8WXI3	704
CYP1B1	OPTN	Q96CV9	698

IntAct

13 interactions, top by confidence:

A	B	Type	Score
CYP1B1	PGRMC1	psi-mi:“MI:0915”(physical association)	0.400
CYP1B1	TEK	psi-mi:“MI:0915”(physical association)	0.400
HSPB2	CYP1B1	psi-mi:“MI:0915”(physical association)	0.370
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
SAE1	CYP1B1	psi-mi:“MI:0915”(physical association)	0.000
fieF	CYP1B1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (20): CYP1B1 (Two-hybrid), CYP1B1 (Affinity Capture-MS), CYP1B1 (Affinity Capture-MS), CYP1B1 (Co-localization), CYP1B1 (Co-localization), CYP1B1 (Co-localization), CYP1B1 (Co-localization), PGRMC1 (Affinity Capture-MS), CYP1B1 (Affinity Capture-MS), CYP1B1 (Proximity Label-MS), CYP1B1 (Proximity Label-MS), CYP1B1 (Proximity Label-MS), CYP1B1 (Proximity Label-MS), CYP1B1 (Affinity Capture-MS), CYP1B1 (Affinity Capture-RNA)

ESM2 similar proteins: B2RXA7, E1BHJ4, F1RE08, G3V7X8, I1GQE7, O02766, O15528, O35084, O35132, O43174, O55127, O88962, O93323, P00191, P03940, P08686, P0DOX0, P12394, P15540, P30437, P51871, P70085, P98187, Q07973, Q08D50, Q09128, Q16678, Q2LA59, Q2LA60, Q2LCM1, Q3MID2, Q4G0S4, Q5VRM7, Q60991, Q64429, Q64441, Q64562, Q64678, Q6EIG3, Q6V0L0

Diamond homologs: O18809, O35293, O42231, O42430, O42457, O54749, O54750, O55071, O57525, O73853, O77809, O77810, O93297, P00176, P00178, P00179, P00182, P00184, P00185, P00186, P00187, P04167, P04798, P04799, P05176, P05177, P05180, P08683, P10610, P10634, P11371, P11711, P11712, P11715, P12394, P12789, P12790, P12938, P13107, P15123

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
AHR	“up-regulates quantity by expression”	CYP1B1	“transcriptional regulation”
ARNT	“up-regulates quantity by expression”	CYP1B1	“transcriptional regulation”
SP1	“up-regulates quantity by expression”	CYP1B1	“transcriptional regulation”
CYP1B1	“up-regulates quantity”	4-hydroxy-17beta-estradiol	“chemical modification”
CYP1B1	“up-regulates quantity”	17beta-estradiol	“chemical modification”

Disease & clinical

Clinical variants and AI predictions

ClinVar

599 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	56
Likely pathogenic	53
Uncertain significance	208
Likely benign	214
Benign	23

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1120045	NM_000104.4(CYP1B1):c.434_443del (p.Arg145fs)	Pathogenic
1254629	NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu)	Pathogenic
1322184	NM_000104.4(CYP1B1):c.517G>T (p.Glu173Ter)	Pathogenic
1335387	NM_000104.4(CYP1B1):c.797GCAACTTCA[1] (p.Ser269_Phe271del)	Pathogenic
1339135	NM_000104.4(CYP1B1):c.1044-2A>G	Pathogenic
1339668	NM_000104.4(CYP1B1):c.1090G>A (p.Val364Met)	Pathogenic
1339669	NM_000104.4(CYP1B1):c.970_971dup (p.Thr325fs)	Pathogenic
1412564	NM_000104.4(CYP1B1):c.1063C>T (p.Arg355Ter)	Pathogenic
1442930	NM_000104.4(CYP1B1):c.55C>T (p.Gln19Ter)	Pathogenic
2098650	NM_000104.4(CYP1B1):c.350G>T (p.Arg117Leu)	Pathogenic
2203048	NM_000104.4(CYP1B1):c.1168C>A (p.Arg390Ser)	Pathogenic
2203049	NM_000104.4(CYP1B1):c.988_989delinsTT (p.Ala330Phe)	Pathogenic
2203050	NM_000104.4(CYP1B1):c.217_218del (p.Ser73fs)	Pathogenic
2577219	NM_000104.4(CYP1B1):c.317C>A (p.Ala106Asp)	Pathogenic
2681137	NM_000104.4(CYP1B1):c.868del (p.Arg290fs)	Pathogenic
2681139	NM_000104.4(CYP1B1):c.1023G>A (p.Trp341Ter)	Pathogenic
2687741	NM_000104.4(CYP1B1):c.9del (p.Ser4fs)	Pathogenic
2705933	NM_000104.4(CYP1B1):c.2T>G (p.Met1Arg)	Pathogenic
2710978	NM_000104.4(CYP1B1):c.873_877dup (p.Met293delinsThrTer)	Pathogenic
2720250	NM_000104.4(CYP1B1):c.1425_1428del (p.Ser476fs)	Pathogenic
2734165	NM_000104.4(CYP1B1):c.243C>G (p.Tyr81Ter)	Pathogenic
2764029	NM_000104.4(CYP1B1):c.836_863del (p.His279fs)	Pathogenic
2768652	NM_000104.4(CYP1B1):c.243del (p.Arg80_Tyr81insTer)	Pathogenic
282564	NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs)	Pathogenic
2827579	NM_000104.4(CYP1B1):c.982_990del (p.Phe328_Ala330del)	Pathogenic
2843498	NM_000104.4(CYP1B1):c.1400_1411del (p.Lys467_Cys470del)	Pathogenic
2849349	NM_000104.4(CYP1B1):c.1057C>T (p.Gln353Ter)	Pathogenic
3236111	NM_000104.4(CYP1B1):c.83C>A (p.Ser28Ter)	Pathogenic
335952	NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys)	Pathogenic
3389610	NM_000104.4(CYP1B1):c.896_897del (p.Ser299fs)	Pathogenic

SpliceAI

343 predictions. Top by Δscore:

Variant	Effect	Δscore
2:38071325:A:AC	acceptor_gain	1.0000
2:38071308:TACC:T	acceptor_loss	0.9900
2:38071310:CCTG:C	acceptor_loss	0.9900
2:38071311:C:CA	acceptor_loss	0.9900
2:38071318:G:C	acceptor_gain	0.9900
2:38071318:G:GC	acceptor_gain	0.9900
2:38071322:T:C	acceptor_gain	0.9900
2:38071322:T:TC	acceptor_gain	0.9900
2:38071325:A:C	acceptor_gain	0.9900
2:38071327:G:C	acceptor_gain	0.9900
2:38071327:G:GC	acceptor_gain	0.9900
2:38074340:CTTTA:C	donor_loss	0.9900
2:38074341:TTTA:T	donor_loss	0.9900
2:38074342:TTA:T	donor_loss	0.9900
2:38074343:TACCT:T	donor_loss	0.9900
2:38074344:A:T	donor_loss	0.9900
2:38074345:C:CT	donor_loss	0.9900
2:38075385:CCATG:C	acceptor_gain	0.9900
2:38075386:CATGC:C	acceptor_gain	0.9900
2:38075388:TG:T	acceptor_gain	0.9900
2:38071308:TAC:T	acceptor_gain	0.9800
2:38071320:G:C	acceptor_gain	0.9800
2:38071320:G:GC	acceptor_gain	0.9800
2:38071321:T:TC	acceptor_gain	0.9800
2:38075390:C:CC	acceptor_gain	0.9800
2:38071321:T:C	acceptor_gain	0.9700
2:38075386:CATG:C	acceptor_gain	0.9700
2:38071309:AC:A	acceptor_gain	0.9600
2:38071310:CC:C	acceptor_gain	0.9600
2:38071311:C:CC	acceptor_gain	0.9600

AlphaMissense

3576 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:38071019:G:C	F445L	0.995
2:38071019:G:T	F445L	0.995
2:38071021:A:G	F445L	0.995
2:38070965:A:C	F463L	0.994
2:38070965:A:T	F463L	0.994
2:38070967:A:G	F463L	0.994
2:38071085:G:C	N423K	0.994
2:38071085:G:T	N423K	0.994
2:38071095:A:T	V420D	0.994
2:38071175:G:C	S393R	0.993
2:38071175:G:T	S393R	0.993
2:38071177:T:G	S393R	0.993
2:38071194:T:A	E387V	0.993
2:38074396:G:C	S331R	0.993
2:38074396:G:T	S331R	0.993
2:38074398:T:G	S331R	0.993
2:38071153:G:C	H401D	0.991
2:38071186:G:T	R390S	0.991
2:38074987:G:C	F134L	0.991
2:38074987:G:T	F134L	0.991
2:38074989:A:G	F134L	0.991
2:38074368:A:G	W341R	0.990
2:38074368:A:T	W341R	0.990
2:38074665:C:G	D242H	0.990
2:38074764:A:G	C209R	0.989
2:38071089:A:T	V422D	0.988
2:38070950:C:A	R468S	0.987
2:38070950:C:G	R468S	0.987
2:38071020:A:G	F445S	0.987
2:38071054:A:G	W434R	0.987

dbSNP variants (sampled 300 via entrez): RS1000265348 (2:38070419 T>C), RS1000395365 (2:38075183 G>A,T), RS1000604188 (2:38068913 C>A,T), RS1000852529 (2:38075340 A>G), RS1000878158 (2:38067642 G>A), RS1001132290 (2:38074095 G>A), RS10012 (2:38075247 G>A,C,T), RS1001337556 (2:38069332 G>A), RS1001561744 (2:38074975 C>G,T), RS1001788696 (2:38069716 C>T), RS1001839676 (2:38073549 G>T), RS1001874715 (2:38078056 G>C), RS1001893622 (2:38073699 C>A,T), RS1002021767 (2:38077314 G>T), RS1002328553 (2:38077799 G>A,T)

Disease associations

OMIM: gene MIM:601771 | disease phenotypes: MIM:231300, MIM:617315, MIM:600975, MIM:604229, MIM:107250, MIM:611544, MIM:615959, MIM:137760

GenCC curated gene-disease

Disease	Classification	Inheritance
CYP1B1-related glaucoma with or without anterior segment dysgenesis	Definitive	Autosomal recessive
glaucoma 3A	Definitive	Autosomal recessive
Peters anomaly	Supportive	Autosomal dominant
congenital glaucoma	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
CYP1B1-related glaucoma with or without anterior segment dysgenesis	Definitive	AR

Mondo (13): congenital glaucoma (MONDO:0020366), glaucoma 3A (MONDO:0009277), anterior segment dysgenesis 6 (MONDO:0015016), CYP1B1-related glaucoma with or without anterior segment dysgenesis (MONDO:0800472), primary congenital glaucoma (MONDO:0000365), glaucoma 3, primary infantile, B (MONDO:0010968), Peters anomaly (MONDO:0011414), anterior segment dysgenesis (MONDO:0019503), coloboma (MONDO:0001476), cataract 17 multiple types (MONDO:0012688), juvenile open angle glaucoma (MONDO:0020367), myopathy, centronuclear, 5 (MONDO:0014418), OPTN-related open angle glaucoma (MONDO:0100553)

Orphanet (7): Congenital glaucoma (Orphanet:98976), Juvenile glaucoma (Orphanet:98977), Peters anomaly (Orphanet:708), Anterior segment developmental anomaly (Orphanet:88632), OBSOLETE: Ocular coloboma (Orphanet:194), Early onset non-syndromic cataract (Orphanet:91492), Autosomal recessive centronuclear myopathy (Orphanet:169186)

HPO phenotypes

48 total (30 of 48 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000485	Megalocornea
HP:0000486	Strabismus
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000523	Subcapsular cataract
HP:0000525	Abnormality iris morphology
HP:0000545	Myopia
HP:0000557	Buphthalmos
HP:0000572	Visual loss
HP:0000587	Abnormal optic nerve morphology
HP:0000593	Abnormal anterior chamber morphology
HP:0000603	Central scotoma
HP:0000613	Photophobia
HP:0000639	Nystagmus
HP:0000643	Blepharospasm
HP:0000646	Amblyopia
HP:0000659	Peters anomaly
HP:0001087	Developmental glaucoma
HP:0001089	Iris atrophy
HP:0001138	Optic neuropathy
HP:0003593	Infantile onset
HP:0007663	Reduced visual acuity
HP:0007759	Opacification of the corneal stroma
HP:0007765	Deep anterior chamber
HP:0007854	Glaucomatous visual field defect
HP:0007906	Ocular hypertension
HP:0007957	Corneal opacity
HP:0007994	Peripheral visual field loss
HP:0008007	Primary congenital glaucoma

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST003059_4	Parkinson’s disease	1.000000e-06
GCST003061_1	Cutaneous malignant melanoma	7.000000e-09
GCST004142_24	Melanoma	7.000000e-09
GCST007504_2	Nevus count	6.000000e-07
GCST007505_21	Nevus count or cutaneous melanoma	1.000000e-10
GCST007713_1	Frontal fibrosing alopecia	2.000000e-11
GCST008870_48	Keratinocyte cancer (MTAG)	5.000000e-12
GCST008871_37	Basal cell carcinoma	3.000000e-13
GCST009238_1	Asthma (time to childhood onset) x early life tobacco smoke interaction	4.000000e-06
GCST009391_1309	Metabolite levels	8.000000e-06
GCST010303_10	Nevus count or cutaneous melanoma	2.000000e-24
GCST010304_38	Cutaneous malignant melanoma	7.000000e-15
GCST90000654_6	Central corneal thickness	1.000000e-08
GCST90013410_7	Basal cell carcinoma	4.000000e-12

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004632	nevus count
EFO:0009855	frontal fibrosing alopecia
EFO:0010176	keratinocyte carcinoma
EFO:0004847	age at onset
EFO:0008361	environmental tobacco smoke exposure measurement
EFO:0010517	oxalate measurement
EFO:0005213	central corneal thickness

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D003103	Coloboma	C11.250.110; C11.270.147; C16.131.384.282
D006871	Hydrophthalmos	C11.250.480; C11.525.381.407.480; C16.131.384.480; C16.614.438
C566923	Cataract, Congenital Nuclear, Autosomal Recessive 3 (supp.)
C536824	Glaucoma 3, primary infantile, B (supp.)
C537884	Peters anomaly (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (4): CHEMBL4523986 (PROTEIN FAMILY), CHEMBL4878 (SINGLE PROTEIN), CHEMBL6066041 (PROTEIN-PROTEIN INTERACTION), CHEMBL6066132 (PROTEIN-PROTEIN INTERACTION)

Molecules with ChEMBL bioactivity

22 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 758,169 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL477772	PAZOPANIB	4	15,540
CHEMBL1095777	INDACATEROL	4	2,735
CHEMBL135	ESTRADIOL	4	123,080
CHEMBL190461	CANNABIDIOL	4	26,379
CHEMBL295124	BERBERINE	4	26,682
CHEMBL45	MELATONIN	4	56,417
CHEMBL532	ERYTHROMYCIN	4	141,173
CHEMBL723	CARVEDILOL	4	30,225
CHEMBL165	RESVERATROL	3	60,144
CHEMBL24171	BERGAPTEN	3	3,967
CHEMBL50	QUERCETIN	3	74,559
CHEMBL74415	CANNABINOL	3	18,794
CHEMBL151	LUTEOLIN	2	23,523
CHEMBL242341	FORMONONETIN	2	8,420
CHEMBL275638	FLAVONE	2	88,985
CHEMBL299613	2-METHOXYESTRADIOL	2	13,643
CHEMBL399910	PINOCEMBRIN	2	163
CHEMBL44746	KHELLIN	2	30,610
CHEMBL8260	BAICALEIN	2	8,592
CHEMBL83527	PTEROSTILBENE	2	4,538
CHEMBL150	KAEMPFEROL	1
CHEMBL295316	PLUMBAGIN	1

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

5 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs10012	Efficacy	3	risperidone	Schizophrenia
rs1056827	Efficacy	3	risperidone	Schizophrenia
rs1056836	Efficacy	3	cyclophosphamide;epirubicin;fluorouracil	Breast Neoplasms
rs1056836	Toxicity	3	cyclophosphamide;epirubicin;paclitaxel	Breast Neoplasms
rs1056836	Toxicity	3	cyclophosphamide;doxorubicin;fluorouracil	Breast Neoplasms

PharmGKB variants

6 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs10012	CYP1B1	3	0.00	1	risperidone
rs1056827	CYP1B1	3	0.00	1	risperidone
rs1056836	CYP1B1	3	2.50	3	cyclophosphamide;doxorubicin;fluorouracil;cyclophosphamide;epirubicin;paclitaxel;cyclophosphamide;epirubicin;fluorouracil
rs1800440	CYP1B1		0.00	0
rs162561	CYP1B1		0.00	0
rs1056837	CYP1B1		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — CYP1 family

Most potent curated ligand interactions (10 total), top 10:

Ligand	Action	Affinity	Parameter
2,3’,4,5’-Tetramethoxystilbene	Inhibition	8.22	pIC50
acacetin	Inhibition	8.15	pKi
diosmetin	Inhibition	7.8	pKi
chrysin	Inhibition	7.8	pKi
quercetin	Inhibition	7.64	pKi
5H3’FPE	Inhibition	7.62	pIC50
myricetin	Inhibition	7.57	pKi
eupatorin	Inhibition	7.46	pKi
berberine	Inhibition	7.36	pKi
apigenin	Inhibition	7.19	pKi

Binding affinities (BindingDB)

2 measured of 6 human assays (7 total across all organisms); most potent 2 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
(E)-5-(2-phenylethenyl)-1,3-benzenediol	KI	74.3 nM
Stilbene, 8f	KI	323 nM

ChEMBL bioactivities

803 potent at pChembl≥5 of 834 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
10.70	IC50	0.02	nM	CHEMBL5560596
10.70	IC50	0.02	nM	CHEMBL5557701
10.70	IC50	0.02	nM	CHEMBL6191896
10.66	Ki	0.02171	nM	CHEMBL5575235
10.40	IC50	0.04	nM	CHEMBL5575235
10.37	IC50	0.043	nM	CHEMBL3421639
10.30	IC50	0.05	nM	CHEMBL6192715
10.15	IC50	0.07	nM	CHEMBL4749123
10.05	IC50	0.09	nM	CHEMBL5279681
9.85	IC50	0.14	nM	CHEMBL4798651
9.82	IC50	0.15	nM	CHEMBL5561280
9.70	IC50	0.2	nM	CHEMBL3422338
9.70	IC50	0.2	nM	CHEMBL3422258
9.70	IC50	0.2	nM	CHEMBL3422257
9.70	IC50	0.2	nM	CHEMBL5394220
9.68	IC50	0.21	nM	CHEMBL5570915
9.62	IC50	0.24	nM	CHEMBL5561334
9.59	IC50	0.26	nM	CHEMBL6189379
9.54	IC50	0.29	nM	CHEMBL6190390
9.52	IC50	0.3	nM	CHEMBL3422349
9.52	IC50	0.3	nM	CHEMBL3422337
9.52	IC50	0.3	nM	CHEMBL3422335
9.52	IC50	0.3	nM	CHEMBL4759410
9.51	IC50	0.31	nM	CHEMBL5403545
9.42	IC50	0.38	nM	CHEMBL4799247
9.41	IC50	0.39	nM	CHEMBL5568815
9.40	IC50	0.4	nM	CHEMBL4748722
9.40	IC50	0.4	nM	CHEMBL6188717
9.34	IC50	0.46	nM	CHEMBL4782753
9.33	IC50	0.47	nM	CHEMBL5575235
9.33	IC50	0.47	nM	CHEMBL6191657
9.33	IC50	0.47	nM	CHEMBL6191055
9.31	IC50	0.49	nM	CHEMBL368236
9.31	IC50	0.49	nM	CHEMBL5555246
9.31	IC50	0.49	nM	CHEMBL6188712
9.28	IC50	0.52	nM	CHEMBL4064195
9.28	IC50	0.53	nM	CHEMBL6190011
9.26	IC50	0.551	nM	CHEMBL5287897
9.24	IC50	0.57	nM	ALPHA-NAPHTHOFLAVONE
9.22	IC50	0.6	nM	CHEMBL3422338
9.22	IC50	0.6	nM	CHEMBL4755282
9.17	IC50	0.67	nM	CHEMBL5422312
9.10	IC50	0.8	nM	CHEMBL3422350
9.08	IC50	0.84	nM	CHEMBL4798694
9.08	IC50	0.83	nM	CHEMBL6188570
9.06	IC50	0.87	nM	CHEMBL4747913
9.06	IC50	0.88	nM	CHEMBL6191455
9.05	IC50	0.9	nM	CHEMBL6189629
9.03	IC50	0.93	nM	CHEMBL4799346
9.03	IC50	0.93	nM	CHEMBL6190275

PubChem BioAssay actives

703 with measured affinity, of 1947 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-(3-fluorophenyl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1203556: Inhibition of human CYP1B1 assessed as reduction in 7-ethoxyresorufin O-deethylation activity by fluorescence based EROD assay	ic50	<0.0001	uM
5-[(E)-2-(4-methoxyphenyl)ethenyl]-4,6-bis(3-methylbut-2-enyl)benzene-1,3-diol	2022034: Inhibition of recombinant human CYP1B1 using 7-ethyl-0-resorufin as substrate incubated for 30 mins in presence of NADPH	ic50	<0.0001	uM
N-ethyl-2-(4-iodophenyl)quinazolin-4-amine;hydrochloride	2082559: Inhibition of human recombinant CYP1B1 using 7-ethoxyresorufin as substrate preincubated with enzyme for 5 mins followed by fluorescent substrate and NADPH addition and measured after 35 mins by EROD assay	ic50	<0.0001	uM
6-bromo-2-(pyrimidin-5-ylmethyl)benzo[de]isoquinoline-1,3-dione	2108194: Inhibition of recombinant human CYP1B1 using 7-ER as substrate in presence of NADPH by fluorescence based assay	ic50	<0.0001	uM
2-(4-iodophenyl)quinazolin-4-amine;hydrochloride	2082559: Inhibition of human recombinant CYP1B1 using 7-ethoxyresorufin as substrate preincubated with enzyme for 5 mins followed by fluorescent substrate and NADPH addition and measured after 35 mins by EROD assay	ic50	<0.0001	uM
2-(4-iodophenyl)quinazolin-4-amine	2082559: Inhibition of human recombinant CYP1B1 using 7-ethoxyresorufin as substrate preincubated with enzyme for 5 mins followed by fluorescent substrate and NADPH addition and measured after 35 mins by EROD assay	ic50	<0.0001	uM
2-(5-fluoro-2-pyridinyl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0001	uM
2-(5-chloro-2-pyridinyl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0001	uM
N-(4-imidazol-1-ylphenyl)-4-(1,3-thiazol-2-yl)-1,3-thiazol-2-amine	1936828: Inhibition of recombinant human CYP1B1 using 7-ethyl-0-resorufin as substrate incubated for 30 mins in presence of NADPH by EROD assay	ic50	0.0001	uM
N-(2-fluoroethyl)-2-(4-iodophenyl)quinazolin-4-amine;hydrochloride	2082559: Inhibition of human recombinant CYP1B1 using 7-ethoxyresorufin as substrate preincubated with enzyme for 5 mins followed by fluorescent substrate and NADPH addition and measured after 35 mins by EROD assay	ic50	0.0001	uM
6,7,10-trimethoxy-2-phenylbenzo[h]chromen-4-one	1203556: Inhibition of human CYP1B1 assessed as reduction in 7-ethoxyresorufin O-deethylation activity by fluorescence based EROD assay	ic50	0.0002	uM
2-(2-fluorophenyl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1203556: Inhibition of human CYP1B1 assessed as reduction in 7-ethoxyresorufin O-deethylation activity by fluorescence based EROD assay	ic50	0.0002	uM
2-(4-chlorophenyl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1203556: Inhibition of human CYP1B1 assessed as reduction in 7-ethoxyresorufin O-deethylation activity by fluorescence based EROD assay	ic50	0.0002	uM
4-[2-(2,4-dimethoxyphenyl)-1,3-thiazol-4-yl]benzonitrile	1973303: Inhibition of CYP1B1 (unknown origin) expressed in HEK293-T-REx cells co-expressing POR incubated for 1 hr by resorufin dye based plate reader analysis	ic50	0.0002	uM
6-bromo-2-(1H-pyrazol-4-ylmethyl)benzo[de]isoquinoline-1,3-dione	2108194: Inhibition of recombinant human CYP1B1 using 7-ER as substrate in presence of NADPH by fluorescence based assay	ic50	0.0002	uM
N-(2-fluoroethyl)-2-(4-iodophenyl)quinazolin-4-amine	2082559: Inhibition of human recombinant CYP1B1 using 7-ethoxyresorufin as substrate preincubated with enzyme for 5 mins followed by fluorescent substrate and NADPH addition and measured after 35 mins by EROD assay	ic50	0.0002	uM
2-(4-fluorophenyl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1203556: Inhibition of human CYP1B1 assessed as reduction in 7-ethoxyresorufin O-deethylation activity by fluorescence based EROD assay	ic50	0.0003	uM
2-(3-chlorophenyl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1203556: Inhibition of human CYP1B1 assessed as reduction in 7-ethoxyresorufin O-deethylation activity by fluorescence based EROD assay	ic50	0.0003	uM
2-(3-fluorophenyl)-3-hydroxy-6,7,10-trimethoxybenzo[h]chromen-4-one	1203556: Inhibition of human CYP1B1 assessed as reduction in 7-ethoxyresorufin O-deethylation activity by fluorescence based EROD assay	ic50	0.0003	uM
2-(6-chloro-2-pyridinyl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0003	uM
4-[(E)-2-(2,4-dimethoxyphenyl)ethenyl]pyridine	1973303: Inhibition of CYP1B1 (unknown origin) expressed in HEK293-T-REx cells co-expressing POR incubated for 1 hr by resorufin dye based plate reader analysis	ic50	0.0003	uM
6,7,10-trimethoxy-2-[4-(2H-triazol-4-yl)phenyl]benzo[h]chromen-4-one	1688847: Inhibition of recombinant human CYP1B1 expressed in baculovirus infected insect cells using 7-ethoxyresorufin as substrate preincubated for 5 mins followed by NADPH addition and measured after 15 mins by EROD assay	ic50	0.0004	uM
2-(6-fluoro-2-pyridinyl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0004	uM
6-bromo-2-(1H-pyrrol-2-ylmethyl)benzo[de]isoquinoline-1,3-dione	2108194: Inhibition of recombinant human CYP1B1 using 7-ER as substrate in presence of NADPH by fluorescence based assay	ic50	0.0004	uM
2-(3-chlorophenyl)benzo[h]chromen-4-one	1581700: Inhibition of human recombinant CYP1B1 using 7-ethoxyresorufin as substrate in presence of glucose-6-phosphate, glucose-6-phosphate dehydrogenase and NADPH-generating system incubated for 35 mins by fluorometry	ic50	0.0005	uM
2-[3-(trifluoromethyl)phenyl]benzo[h]chromen-4-one	1581700: Inhibition of human recombinant CYP1B1 using 7-ethoxyresorufin as substrate in presence of glucose-6-phosphate, glucose-6-phosphate dehydrogenase and NADPH-generating system incubated for 35 mins by fluorometry	ic50	0.0005	uM
2-(2-bromo-4-pyridinyl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0005	uM
2-(4-bromophenyl)quinazolin-4-amine;hydrochloride	2082559: Inhibition of human recombinant CYP1B1 using 7-ethoxyresorufin as substrate preincubated with enzyme for 5 mins followed by fluorescent substrate and NADPH addition and measured after 35 mins by EROD assay	ic50	0.0005	uM
2-phenylbenzo[h]chromen-4-one	2108194: Inhibition of recombinant human CYP1B1 using 7-ER as substrate in presence of NADPH by fluorescence based assay	ic50	0.0006	uM
6,7,10-trimethoxy-2-pyridin-2-ylbenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0006	uM
N-(3-fluorophenyl)-4-(4-pyridin-3-yl-1,3-thiazol-2-yl)-1,3-thiazol-2-amine	1936828: Inhibition of recombinant human CYP1B1 using 7-ethyl-0-resorufin as substrate incubated for 30 mins in presence of NADPH by EROD assay	ic50	0.0006	uM
2-[3-[2-[2-[2-(2-aminoethoxy)ethoxy]ethoxy]ethoxy]-5-fluorophenyl]-6,7,10-trimethoxybenzo[h]chromen-4-one	2023818: Inhibition of recombinant CYP1B1 (unknown origin) using 7-ethoxyresorufin as substrate preincubated for 5 mins followed by NADPH addition incubated for 35 mins by EROD assay	ic50	0.0007	uM
2-(4-fluorophenyl)-3-hydroxy-6,7,10-trimethoxybenzo[h]chromen-4-one	1203556: Inhibition of human CYP1B1 assessed as reduction in 7-ethoxyresorufin O-deethylation activity by fluorescence based EROD assay	ic50	0.0008	uM
2-(4-chloro-2-pyridinyl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0008	uM
2-(1H-indol-6-yl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0009	uM
2-(1-benzofuran-2-yl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0009	uM
2-(2-fluoro-4-pyridinyl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0009	uM
6,7,10-trimethoxy-2-quinolin-2-ylbenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0010	uM
2,4-bis(2,4-dimethoxyphenyl)-1,3-thiazole	1973303: Inhibition of CYP1B1 (unknown origin) expressed in HEK293-T-REx cells co-expressing POR incubated for 1 hr by resorufin dye based plate reader analysis	ic50	0.0010	uM
2-(6-amino-3-pyridinyl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0010	uM
2-(5-fluoro-3-pyridinyl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0010	uM
6,7,10-trimethoxy-2-pyridin-3-ylbenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0010	uM
2-(2-chlorophenyl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1203556: Inhibition of human CYP1B1 assessed as reduction in 7-ethoxyresorufin O-deethylation activity by fluorescence based EROD assay	ic50	0.0011	uM
6,7,10-trimethoxy-2-(4-methoxyphenyl)benzo[h]chromen-4-one	1203556: Inhibition of human CYP1B1 assessed as reduction in 7-ethoxyresorufin O-deethylation activity by fluorescence based EROD assay	ic50	0.0011	uM
2-(5-bromo-3-pyridinyl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0011	uM
2-(2-chloro-4-pyridinyl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0011	uM
2-(2-fluorophenyl)-3-hydroxy-6,7,10-trimethoxybenzo[h]chromen-4-one	1203556: Inhibition of human CYP1B1 assessed as reduction in 7-ethoxyresorufin O-deethylation activity by fluorescence based EROD assay	ic50	0.0012	uM
6,7,10-trimethoxy-2-pyridin-4-ylbenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0012	uM
2-(furan-2-yl)-6,7,10-trimethoxybenzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0012	uM
6,7,10-trimethoxy-2-(6-methyl-2-pyridinyl)benzo[h]chromen-4-one	1727620: Inhibition of recombinant human CYP1B1 using 7-ethoxyresorufin as substrate after 35 mins in presence of NADP+ by EROD assay	ic50	0.0012	uM

CTD chemical–gene interactions

563 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tetrachlorodibenzodioxin	affects binding, increases reaction, increases activity, affects reaction, affects expression (+6 more)	142
Benzo(a)pyrene	increases activity, affects metabolic processing, increases expression, increases reaction, decreases reaction (+13 more)	90
Estradiol	increases reaction, affects reaction, affects metabolic processing, increases chemical synthesis, affects cotreatment (+9 more)	29
Particulate Matter	decreases reaction, increases expression, increases reaction, increases abundance, affects cotreatment (+2 more)	27
Tobacco Smoke Pollution	decreases reaction, affects expression, increases methylation, increases expression, increases reaction (+2 more)	19
Resveratrol	affects expression, affects binding, decreases activity, increases activity, increases expression (+6 more)	18
Vehicle Emissions	affects expression, increases reaction, increases abundance, decreases reaction, increases expression (+2 more)	14
alpha-naphthoflavone	decreases activity, decreases reaction, increases expression, affects cotreatment, increases metabolic processing (+2 more)	11
benz(a)anthracene	affects cotreatment, decreases reaction, increases expression, affects reaction	11
beta-Naphthoflavone	affects binding, decreases activity, increases expression	11
3,4,5,3’,4’-pentachlorobiphenyl	decreases reaction, increases expression, affects expression, affects cotreatment, decreases expression (+1 more)	10
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression, affects cotreatment, decreases expression	10
Methylcholanthrene	affects binding, increases reaction, increases expression, increases activity	10
sodium arsenite	increases expression, affects methylation, decreases expression, affects cotreatment, increases abundance	9
2,4,3’,5’-tetramethoxystilbene	increases expression, increases hydroxylation, increases metabolic processing, affects cotreatment, affects binding (+3 more)	9
9,10-Dimethyl-1,2-benzanthracene	increases activity, increases chemical synthesis, increases reaction, decreases reaction, increases expression (+1 more)	9
bisphenol A	affects expression, decreases expression, affects localization, increases expression, increases reaction	7
trichostatin A	affects cotreatment, increases expression, decreases reaction, affects expression, increases reaction	7
chrysene	affects cotreatment, decreases reaction, increases expression	7
phenanthrene	decreases activity, increases activity, increases metabolic processing, increases abundance, decreases metabolic processing (+4 more)	7
3’,4’-dimethoxyflavone	decreases reaction, increases activity, increases expression, decreases expression, affects binding (+1 more)	7
Polycyclic Aromatic Hydrocarbons	affects metabolic processing, affects cotreatment, increases abundance, increases expression, decreases expression	7
Quercetin	affects binding, decreases activity, decreases expression, increases expression	7
Valproic Acid	affects cotreatment, increases expression, decreases expression	7
benzo(k)fluoranthene	affects cotreatment, affects reaction, increases hydroxylation, increases expression	6
pyrene	increases hydroxylation, affects cotreatment, increases expression, affects binding, decreases activity (+2 more)	6
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	decreases expression, increases activity, increases metabolic processing, increases chemical synthesis, decreases reaction (+3 more)	6
6-formylindolo(3,2-b)carbazole	affects binding, increases reaction, increases expression, decreases reaction	6
Fulvestrant	affects cotreatment, decreases methylation, affects methylation, decreases reaction, increases expression (+2 more)	6
Air Pollutants	affects response to substance, increases abundance, increases expression	6

ChEMBL screening assays

408 unique, capped per target: 281 admet, 127 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2060324	ADMET	Inhibition of CYP450	Rapid identification of ETP-46992, orally bioavailable PI3K inhibitor, selective versus mTOR. — Bioorg Med Chem Lett
CHEMBL4614611	Binding	Drug metabolism in human liver microsomes assessed as Cytochrome P450-mediated formation of 12-OHNVP by measuring Kcat/Km ratio in presence of NADPH regenerating reagents by uHPLC-MS/MS analysis	Twelfth-Position Deuteration of Nevirapine Reduces 12-Hydroxy-Nevirapine Formation and Nevirapine-Induced Hepatocyte Death. — J Med Chem

Cellosaurus cell lines

6 cell lines: 3 cancer cell line, 1 spontaneously immortalized cell line, 1 transformed cell line, 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1EZ	Abcam A-549 CYP1B1 KO 1	Cancer cell line	Male
CVCL_B5WP	V79MZh1B1	Spontaneously immortalized cell line	Male
CVCL_B9CP	Abcam A-549 CYP1B1 KO 2	Cancer cell line	Male
CVCL_C7JT	AHH-1 TK+/- h1B1/OR	Transformed cell line	Male
CVCL_D1S3	Abcam U-87MG CYP1B1 KO	Cancer cell line	Male
CVCL_VD53	ESi047-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

30 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT07396441	PHASE4	RECRUITING	Supplementary Kelulut Honey Therapy in Juvenile Open-Angle Glaucoma: Effects on IL-6, RNFL and Dry Eye
NCT04947124	PHASE2	COMPLETED	A Study to Determine the Safety and Tolerability of 2 Concentrations of QLS-101
NCT01460017	PHASE1	UNKNOWN	Comparison Between Deep Sclerectomy and Traditional Trabeculotomy & Trabeculectomy in Congenital Glaucoma
NCT02121171	PHASE1	UNKNOWN	Combined Trab+Trab Versus Combined Trab+Trab With Subconjunctival Implantation of Ologen for Primary Congenital Glaucoma
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT01020721	Not specified	UNKNOWN	The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma
NCT01136460	Not specified	UNKNOWN	Genetic Testing in Primary Congenital Glaucoma Patients
NCT02945176	Not specified	COMPLETED	Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation
NCT03077789	Not specified	COMPLETED	Prospective Study of the Diagnostic and Therapeutic Management of Congenital Glaucoma in France
NCT03541551	Not specified	COMPLETED	Ologen® Collagen Matrix in Patients With Primary Congenital Glaucoma Undergoing Trabeculectomy
NCT04079725	Not specified	UNKNOWN	Iris Tissue in Primary Congenital Glaucoma
NCT04116450	Not specified	COMPLETED	MicrocatheterTrabeculotomy in Primary Congenital Glaucoma
NCT04381611	Not specified	ENROLLING_BY_INVITATION	INTEGRAL Study: A Longitudinal Study of Surgeries and Lasers in Glaucoma: Long-term Results and Success Predictors Analysed From a Large-scale Retrospective and Prospective Glaucoma Register
NCT04647929	Not specified	WITHDRAWN	Comparison of Surgical Treatment Options for Primary Congenital and Developmental Glaucomas
NCT04683289	Not specified	COMPLETED	Visco-Circumferential-Suture-Trabeculotomy Versus Trabeculotomy
NCT04709497	Not specified	UNKNOWN	Surgery for Primary Congenital Glaucoma in Neonates
NCT04949555	Not specified	UNKNOWN	Long Term Evaluation of Primary Congenital Glaucoma Management in Sohag University Hospital
NCT05011747	Not specified	UNKNOWN	Viscotrabeculotomy in Pediatric Glaucoma Following Cataract Surgery
NCT05115708	Not specified	UNKNOWN	Kahook Dual Blade Ab-interno Trabeculotomy Versus ab Externo Viscotrabeculotomy in Primary Congenital Glaucoma
NCT05205122	Not specified	UNKNOWN	Evaluation of Primary Congenital Glaucoma at Asyut University Hospital
NCT05943184	Not specified	COMPLETED	Cognitive Behavioral Nursing Model
NCT06189326	Not specified	UNKNOWN	Non-penetrating Deep Sclerectomy Versus Trabeculotomy- Trabeculectomy Operation in Treatment of Primary Congenital Glaucoma
NCT07012252	Not specified	COMPLETED	Optical Coherence Tomography of the Irido-Corneal Angle Before and After Goniotomy and Trabeculotomy in Primary Congenital Glaucoma
NCT07504315	Not specified	NOT_YET_RECRUITING	Study Aim to Compare the Effect of Different Technique of Airway Managment During Anaesthesia on the Haemodynamics and Intraocular Pressure. Patients Were Divided Into Three Groups of 25 Patients Each. (Group A); Patients Who Were Subjected to LMA Insertion (Group B ).
NCT07550868	Not specified	NOT_YET_RECRUITING	Goniotomy in Primary Congenital Glaucoma
NCT05641103	Not specified	COMPLETED	PREDIGA 2: Spanish Acronym of Educational and Diagnostic Project for Gaucher and ASMD
NCT00368004	Not specified	TERMINATED	Family Studies of Uveal Coloboma
NCT01778543	Not specified	RECRUITING	Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)
NCT04833361	Not specified	COMPLETED	Potential Environmental Causes of Uveal Coloboma
NCT06293560	Not specified	RECRUITING	Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children