chr2:38067509:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:38,294,652-38,337,044 |
| hg38 | chr2:38,067,509-38,109,902 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.133 | squamous cell carcinoma | NA | BeFree,CTD_human,GAD | Detail | |
| 0.003 | Cardiovascular Diseases | NA | BeFree,GAD | Detail | |
| <0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
| 0.002 | intrahepatic cholestasis | NA | GAD | Detail | |
| <0.001 | choriocarcinoma | NA | BeFree | Detail | |
| <0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
| <0.001 | Congenital ocular coloboma (disorder) | NA | BeFree | Detail | |
| <0.001 | Colonic Neoplasms | NA | BeFree | Detail | |
| 0.003 | colorectal carcinoma | Association between CYP1A2 and CYP1B1 polymorphisms and colorectal cancer risk: ... | BeFree | 25115775 | Detail |
| 0.127 | Colorectal Neoplasms | NA | CTD_human,GAD,LHGDN | Detail | |
| 0.002 | Deafness | NA | GAD | Detail | |
| 0.120 | contact dermatitis | NA | CTD_human | Detail | |
| <0.001 | DiGeorge syndrome | We report here an 8-year-old patient with 22q11.2 deletion syndrome and bilatera... | BeFree | 24024747 | Detail |
| 0.002 | DNA Damage | NA | GAD | Detail | |
| 0.002 | Endocrine System Diseases | NA | GAD | Detail | |
| 0.015 | Endometrial Neoplasms | NA | GAD,LHGDN | Detail | |
| 0.008 | endometriosis | COMT 158G/A and CYP1B1 432C/G polymorphisms increase the risk of endometriosis a... | BeFree,GAD | 24965973 | Detail |
| <0.001 | Esophageal Neoplasms | NA | BeFree | Detail | |
| <0.001 | breast fibrocystic disease | NA | BeFree | Detail | |
| 0.094 | glaucoma | CYP1B1 mutation related congenital glaucoma can present with an extreme form of ... | BeFree,GAD,LHGDN | 24001018 | Detail |
| 0.094 | glaucoma | To evaluate the prevalence and the diagnostic utility of testing for CYP1B1 copy... | BeFree,GAD,LHGDN | 25750510 | Detail |
| 0.094 | glaucoma | Variants in CYP1B1 are the most common cause of glaucoma in different world popu... | BeFree,GAD,LHGDN | 26164761 | Detail |
| 0.002 | Angle Closure Glaucoma | NA | GAD | Detail | |
| <0.001 | primary angle-closure glaucoma | NA | BeFree | Detail | |
| 0.042 | Glaucoma, Open-Angle | Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Vis... | BeFree,GAD,LHGDN | 25950505 | Detail |
| 0.003 | Glioma | NA | LHGDN | Detail | |
| 0.012 | Head and Neck Neoplasms | NA | GAD,LHGDN | Detail | |
| 0.002 | Hearing Loss, Partial | NA | GAD | Detail | |
| 0.200 | Cardiomegaly | NA | CTD_human,RGD | Detail | |
| <0.001 | Atrial Septal Defects | NA | BeFree | Detail | |
| 0.135 | hydrophthalmos | A novel CYP1B1 mutation with congenital glaucoma and total aniridia. | BeFree,CLINVAR,GAD | 24001018 | Detail |
| 0.135 | hydrophthalmos | We report here an 8-year-old patient with 22q11.2 deletion syndrome and bilatera... | BeFree,CLINVAR,GAD | 24024747 | Detail |
| 0.135 | hydrophthalmos | Based on the disease frequency (1 in 10,000) and prevalence of CYP1B1-related co... | BeFree,CLINVAR,GAD | 25646030 | Detail |
| 0.003 | Hypertensive disease | NA | BeFree,GAD | Detail | |
| 0.002 | Hypopharyngeal Neoplasms | NA | GAD | Detail | |
| 0.003 | Kidney Neoplasm | NA | LHGDN | Detail | |
| 0.002 | Laryngeal neoplasm | NA | GAD | Detail | |
| 0.005 | Fibroid Tumor | NA | BeFree,GAD,LHGDN | Detail | |
| 0.005 | chronic lymphocytic leukemia | NA | GAD | Detail | |
| <0.001 | Acute lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Leukoplakia, Oral | NA | BeFree | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| 0.002 | Lung diseases | NA | GAD | Detail | |
| 0.005 | Chronic Obstructive Airway Disease | NA | BeFree,GAD | Detail | |
| 0.128 | Lung Neoplasms | NA | CTD_human,GAD,LHGDN | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| 0.002 | Lymphoma, Follicular | NA | GAD | Detail | |
| 0.009 | Lymphoma, Non-Hodgkin | NA | GAD | Detail | |
| 0.002 | Mycetoma | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| 0.320 | GLAUCOMA 3, PRIMARY CONGENITAL, A | Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segr... | UNIPROT | 10655546 | Detail |
| 0.002 | Animal Mammary Neoplasms | NA | GAD | Detail | |
| 0.120 | melanoma | NA | BeFree,CTD_human | Detail | |
| <0.001 | meningioma | NA | BeFree | Detail | |
| 0.002 | Mesothelioma | NA | GAD | Detail | |
| <0.001 | Metabolic Diseases | These studies establish a biochemical link between cytochromes P450, lipids, and... | BeFree | 24684199 | Detail |
| <0.001 | Microphthalmos | NA | BeFree | Detail | |
| 0.120 | Mouth Neoplasms | NA | CTD_human | Detail | |
| 0.003 | multiple myeloma | NA | BeFree,GAD | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| <0.001 | obesity | Lipidomics reveals a link between CYP1B1 and SCD1 in promoting obesity. | BeFree | 24684199 | Detail |
| 0.003 | ocular hypertension | NA | BeFree,GAD | Detail | |
| <0.001 | osteoporosis | NA | BeFree | Detail | |
| 0.002 | Osteoporosis, Postmenopausal | NA | GAD | Detail | |
| 0.002 | ovarian carcinoma | The expression profile of CYP1B1 suggests that it has the potential to be a usef... | BeFree | 25516145 | Detail |
| 0.002 | Pancreatic Neoplasm | NA | GAD | Detail | |
| 0.005 | Parkinson disease | NA | GAD | Detail | |
| 0.002 | Pleural Neoplasms | NA | GAD | Detail | |
| <0.001 | Precancerous Conditions | NA | BeFree | Detail | |
| 0.002 | Pregnancy Complications | NA | GAD | Detail | |
| <0.001 | Preleukemia | NA | BeFree | Detail | |
| 0.131 | Prostatic Neoplasms | NA | CTD_human,LHGDN | Detail | |
| <0.001 | Precocious Puberty | Are CYP1A1, CYP17 and CYP1B1 mutation genes involved on girls with precocious pu... | BeFree | 25150952 | Detail |
| <0.001 | pulmonary emphysema | A significant correlation between reduced lung function and increased radiograph... | BeFree | 25517428 | Detail |
| <0.001 | Retinal Diseases | NA | BeFree | Detail | |
| 0.002 | Stomach Neoplasms | NA | GAD | Detail | |
| 0.005 | Tobacco use disorder | NA | GAD | Detail | |
| 0.001 | Uterine Fibroids | The genetic polymorphisms of IVS1+2329C>T and Val158Met loci in COMT, Ile462Val ... | BeFree | 24320736 | Detail |
| 0.002 | Uterine Neoplasms | NA | GAD | Detail | |
| <0.001 | Vascular Diseases | NA | BeFree | Detail | |
| <0.001 | B-Cell Lymphomas | NA | BeFree | Detail | |
| 0.002 | diffuse large B-cell lymphoma | NA | GAD | Detail | |
| 0.001 | Uterine Fibroids | The genetic polymorphism of rs3087869 (IVS1+2329C>T) (OR 3.200, 95% CI 1.614-... | BeFree | 24777039 | Detail |
| <0.001 | Li-Fraumeni syndrome | Using p53 heterozygous mutant epithelial cells from patients with Li-Fraumeni sy... | BeFree | 24736433 | Detail |
| <0.001 | Non-small cell lung carcinoma | In this study, CYP1A1 (Ile462Val), CYP1B1(Asn453Ser), GST M1, GSTP1 exon 5 (Ile1... | BeFree | 20845989 | Detail |
| 0.002 | Alcohol abuse | NA | GAD | Detail | |
| <0.001 | Depressive Symptoms | NA | BeFree | Detail | |
| 0.366 | Glaucoma, Primary Open Angle | Moreover, one haplotype consisting of rs1056827 and rs100012 in CYP1B1 gene was ... | BeFree | 23206929 | Detail |
| <0.001 | Adenocarcinoma of lung (disorder) | NA | BeFree | Detail | |
| <0.001 | esophageal carcinoma | NA | BeFree | Detail | |
| 0.003 | low tension glaucoma | NA | BeFree,GAD | Detail | |
| <0.001 | Idiopathic pulmonary hypertension | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of gallbladder | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of testis | NA | GAD | Detail | |
| 0.002 | Malignant neoplasm of brain | NA | GAD | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | hepatocellular adenoma | NA | BeFree | Detail | |
| <0.001 | Shprintzen syndrome | We report here an 8-year-old patient with 22q11.2 deletion syndrome and bilatera... | BeFree | 24024747 | Detail |
| <0.001 | Malignant neoplasm of female breast | NA | BeFree | Detail | |
| <0.001 | gallbladder carcinoma | NA | BeFree | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Menopausal symptom | NA | BeFree | Detail | |
| <0.001 | Gastrointestinal Stromal Tumors | NA | BeFree | Detail | |
| <0.001 | Hereditary pancreatitis | NA | BeFree | Detail | |
| <0.001 | Endometriosis of pelvis | NA | BeFree | Detail | |
| <0.001 | Irido-corneal dysgenesis | CYP1B1 mutation related congenital glaucoma can present with an extreme form of ... | BeFree | 24001018 | Detail |
| <0.001 | Primary amyloidosis | NA | BeFree | Detail | |
| <0.001 | Stage IV Ovarian Carcinoma | NA | BeFree | Detail | |
| <0.001 | Cancer of Head and Neck | NA | BeFree | Detail | |
| 0.080 | Squamous cell carcinoma of esophagus | NA | BeFree,RGD | Detail | |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | Multiple adenomatous polyps | NA | BeFree | Detail | |
| 0.366 | Glaucoma, Primary Open Angle | Identification of novel CYP1B1 gene mutations in patients with primary congenita... | BeFree,CLINVAR,CTD_human,UNIPROT | 25091052 | Detail |
| 0.366 | Glaucoma, Primary Open Angle | Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma... | BeFree,CLINVAR,CTD_human,UNIPROT | 25527694 | Detail |
| <0.001 | endometriosis of uterus | COMT 158G/A and CYP1B1 432C/G polymorphisms increase the risk of endometriosis a... | BeFree | 24965973 | Detail |
| <0.001 | Precocious Puberty, Central | To investigate three genes associated with puberty timing in girls with central ... | BeFree | 25150952 | Detail |
| 0.361 | Irido-corneo-trabecular dysgenesis (disorder) | We report here an 8-year-old patient with 22q11.2 deletion syndrome and bilatera... | BeFree,CLINVAR,CTD_human,ORPHANET | 24024747 | Detail |
| 0.003 | Malignant neoplasm of liver | NA | BeFree,GAD | Detail | |
| 0.003 | Malignant neoplasm of pancreas | NA | BeFree,GAD | Detail | |
| 0.041 | Malignant neoplasm of prostate | NA | BeFree,GAD | Detail | |
| 0.017 | endometrial carcinoma | NA | BeFree,GAD | Detail | |
| <0.001 | Malignant neoplasm of esophagus | NA | BeFree | Detail | |
| 0.030 | colorectal cancer | CYP1B1 Asn453Ser polymorphism and colorectal cancer risk: a meta-analysis. | BeFree | 22459615 | Detail |
| 0.366 | Glaucoma, Primary Open Angle | Association of a common coding polymorphism (N453S) of the cytochrome P450 1B1 (... | BeFree | 16319821 | Detail |
| 0.003 | colorectal carcinoma | CYP1B1 Asn453Ser polymorphism and colorectal cancer risk: a meta-analysis. | BeFree | 22459615 | Detail |
| 0.005 | Menopause present (finding) | NA | GAD | Detail | |
| 0.001 | Intraocular pressure disorder | NA | BeFree | Detail | |
| <0.001 | Aqueous Humor Disorders | NA | BeFree | Detail | |
| <0.001 | Carcinoma of larynx | Effects of SNPs (CYP1B1*2 G355T, CYP1B1*3 C4326G, and CYP2E1*5 G-1293C), smoking... | BeFree | 25299224 | Detail |
| <0.001 | Carcinoma of larynx | Association between CYP1B1 gene polymorphisms and risk factors and susceptibilit... | BeFree | 25619313 | Detail |
| 0.005 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | Chemical Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | Tumor Initiation | NA | BeFree | Detail | |
| 0.006 | prostate carcinoma | NA | BeFree | Detail | |
| 0.006 | Hot flushes | NA | BeFree,GAD | Detail | |
| <0.001 | Epithelial ovarian cancer | CYP1B1 enhances the resistance of epithelial ovarian cancer cells to paclitaxel ... | BeFree | 25516145 | Detail |
| 0.017 | breast carcinoma | TCDD pretreatment induces disparity in the disposition of E2 to reactive quinono... | BeFree | 23700305 | Detail |
| 0.017 | breast carcinoma | In breast cancers expressing estrogen receptors (ERs), level of CYP1B1 is increa... | BeFree | 25448748 | Detail |
| 0.017 | breast carcinoma | Among all analyzed genes, only CYP1B1 and ABCB1 resulted the strongest candidate... | BeFree | 26198313 | Detail |
| <0.001 | Secondary malignant neoplasm of lymph node | NA | BeFree | Detail | |
| 0.002 | Pregnancy loss | NA | GAD | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| 0.002 | Carcinoma of bladder | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of kidney | NA | BeFree,GAD | Detail | |
| <0.001 | Premenopausal breast cancer | NA | BeFree | Detail | |
| <0.001 | Malignant Squamous Cell Neoplasm | NA | BeFree | Detail | |
| <0.001 | Oculo-dento-digital syndrome | NA | BeFree | Detail | |
| <0.001 | Invasive breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinogenicity | NA | BeFree | Detail | |
| <0.001 | Intraepithelial Neoplasia | NA | BeFree | Detail | |
| 0.125 | ovarian neoplasm | NA | CTD_human,LHGDN | Detail | |
| 0.002 | Genomic Instability | NA | GAD | Detail | |
| <0.001 | Metastatic Prostate Carcinoma | NA | BeFree | Detail | |
| 0.002 | Invasive Ductal Breast Carcinoma | NA | GAD | Detail | |
| 0.014 | Malignant neoplasm of ovary | The expression profile of CYP1B1 suggests that it has the potential to be a usef... | BeFree,GAD | 25516145 | Detail |
| 0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| <0.001 | pancreatic ductal adenocarcinoma | NA | BeFree | Detail | |
| 0.002 | Testicular Germ Cell Tumor | NA | GAD | Detail | |
| <0.001 | renal carcinoma | NA | BeFree | Detail | |
| 0.002 | hearing impairment | NA | GAD | Detail | |
| 0.236 | Mammary Neoplasms | NA | BeFree,CTD_human,GAD,LHGDN,RGD | Detail | |
| <0.001 | Mammary Tumorigenesis | NA | BeFree | Detail | |
| <0.001 | Xenograft Model | Finally, we used proliferation and toxicity assays, as well as a mouse xenograft... | BeFree | 25516145 | Detail |
| 0.030 | colorectal cancer | Association between CYP1A2 and CYP1B1 polymorphisms and colorectal cancer risk: ... | BeFree,GAD | 25115775 | Detail |
| 0.025 | primary congenital glaucoma | This study confirms that CYP1B1 mutations are associated with POAG and PCG in th... | BeFree,GAD | 25091052 | Detail |
| 0.025 | primary congenital glaucoma | To understand the CYP1B1 mediated etiopathology of PCG and pathomechanism of var... | BeFree,GAD | 25329831 | Detail |
| 0.025 | primary congenital glaucoma | CYP1B1 copy number variation is not a major contributor to primary congenital gl... | BeFree,GAD | 25750510 | Detail |
| 0.025 | primary congenital glaucoma | Multivariate analysis revealed that, after adjustment of the parameters that sho... | BeFree,GAD | 25826643 | Detail |
| 0.025 | primary congenital glaucoma | Clinical Variability of Primary Congenital Glaucoma in a Spanish Family With Cyp... | BeFree,GAD | 25836661 | Detail |
| 0.025 | primary congenital glaucoma | CYP1B1 gene analysis and phenotypic correlation in Portuguese children with prim... | BeFree,GAD | 25952714 | Detail |
| <0.001 | Benign Prostatic Hyperplasia | NA | BeFree | Detail | |
| <0.001 | Meningioma, benign, no ICD-O subtype | NA | BeFree | Detail | |
| <0.001 | Slow acetylator due to N-acetyltransferase enzyme variant | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | When we corrected for multiple testing using these statistical tools, three nove... | BeFree | 18258609 | Detail |
| 0.240 | Glaucoma 1, open angle, A | NA | CTD_human,UNIPROT | Detail | |
| 0.008 | Mammographic Density | NA | BeFree,GAD | Detail | |
| 0.320 | GLAUCOMA 3, PRIMARY CONGENITAL, A | NA | CTD_human,MGD,UNIPROT | Detail | |
| 0.003 | uterine corpus cancer | NA | BeFree | Detail | |
| 0.120 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | BeFree,CTD_human | Detail | |
| 0.001 | liver carcinoma | Polymorphisms of the CYP1B1 gene and hepatocellular carcinoma risk in a Chinese ... | BeFree | 25796598 | Detail |
| 0.002 | Maduromycosis | NA | GAD | Detail | |
| <0.001 | Prostate cancer, familial | NA | BeFree | Detail | |
| <0.001 | Pulmonary arterial hypertension | NA | BeFree | Detail | |
| 0.001 | Glaucoma of childhood | NA | BeFree | Detail | |
| <0.001 | Early-Onset Glaucoma | NA | BeFree | Detail | |
| <0.001 | Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia | NA | BeFree | Detail | |
| 0.002 | Hearing Loss | NA | GAD | Detail | |
| 0.003 | uterine corpus cancer | CYP1B1 Leu432Val and Asn453Ser polymorphisms demonstrated an increased and decre... | BeFree | 23370603 | Detail |
| 0.017 | endometrial carcinoma | CYP1B1 Leu432Val and Asn453Ser polymorphisms demonstrated an increased and decre... | BeFree | 23370603 | Detail |
| 0.003 | Malignant neoplasm of endometrium | CYP1B1 Leu432Val and Asn453Ser polymorphisms demonstrated an increased and decre... | BeFree | 23370603 | Detail |
| <0.001 | Congenital Abnormality | NA | BeFree | Detail | |
| 0.003 | Spontaneous abortion | NA | LHGDN | Detail | |
| 0.008 | adenocarcinoma | NA | BeFree,GAD,LHGDN | Detail | |
| 0.122 | adenoma | NA | CTD_human,GAD | Detail | |
| <0.001 | aniridia | A novel CYP1B1 mutation with congenital glaucoma and total aniridia. | BeFree | 24001018 | Detail |
| 0.003 | asthma | NA | BeFree,GAD | Detail | |
| 0.002 | autistic disorder | NA | GAD | Detail | |
| 0.011 | Malignant neoplasm of urinary bladder | NA | BeFree,GAD | Detail | |
| <0.001 | Bladder Neoplasm | NA | BeFree | Detail | |
| 0.097 | Malignant neoplasm of breast | TCDD pretreatment induces disparity in the disposition of E2 to reactive quinono... | BeFree,GAD | 23700305 | Detail |
| 0.097 | Malignant neoplasm of breast | In breast cancers expressing estrogen receptors (ERs), level of CYP1B1 is increa... | BeFree,GAD | 25448748 | Detail |
| 0.097 | Malignant neoplasm of breast | Among all analyzed genes, only CYP1B1 and ABCB1 resulted the strongest candidate... | BeFree,GAD | 26198313 | Detail |
| 0.003 | Malignant neoplasm of endometrium | NA | BeFree | Detail | |
| <0.001 | female breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of larynx | Effects of SNPs (CYP1B1*2 G355T, CYP1B1*3 C4326G, and CYP2E1*5 G-1293C), smoking... | BeFree | 25299224 | Detail |
| <0.001 | Malignant neoplasm of larynx | Association between CYP1B1 gene polymorphisms and risk factors and susceptibilit... | BeFree | 25619313 | Detail |
| <0.001 | Non-small cell lung carcinoma | Cytochrome P450 1B1 (CYP1B1) polymorphisms are associated with clinical outcome ... | BeFree | 25504507 | Detail |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association between CYP1A2 and CYP1B1 polymorphisms and colorectal cancer risk: a meta-analysis. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We report here an 8-year-old patient with 22q11.2 deletion syndrome and bilateral Peters anomaly wit... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| COMT 158G/A and CYP1B1 432C/G polymorphisms increase the risk of endometriosis and adenomyosis: a me... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| CYP1B1 mutation related congenital glaucoma can present with an extreme form of anterior segment dys... | DisGeNET | Detail |
| To evaluate the prevalence and the diagnostic utility of testing for CYP1B1 copy number variation (C... | DisGeNET | Detail |
| Variants in CYP1B1 are the most common cause of glaucoma in different world populations. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A novel CYP1B1 mutation with congenital glaucoma and total aniridia. | DisGeNET | Detail |
| We report here an 8-year-old patient with 22q11.2 deletion syndrome and bilateral Peters anomaly wit... | DisGeNET | Detail |
| Based on the disease frequency (1 in 10,000) and prevalence of CYP1B1-related congenital glaucoma (1... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary cong... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These studies establish a biochemical link between cytochromes P450, lipids, and metabolic disorders... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Lipidomics reveals a link between CYP1B1 and SCD1 in promoting obesity. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The expression profile of CYP1B1 suggests that it has the potential to be a useful diagnostic marker... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Are CYP1A1, CYP17 and CYP1B1 mutation genes involved on girls with precocious puberty? A pilot study... | DisGeNET | Detail |
| A significant correlation between reduced lung function and increased radiographic emphysema with me... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The genetic polymorphisms of IVS1+2329C>T and Val158Met loci in COMT, Ile462Val and Gly45Asp loci in... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The genetic polymorphism of rs3087869 (IVS1+2329C>T) (OR 3.200, 95% CI 1.614-6.345) and rs4680 (V... | DisGeNET | Detail |
| Using p53 heterozygous mutant epithelial cells from patients with Li-Fraumeni syndrome, we show that... | DisGeNET | Detail |
| In this study, CYP1A1 (Ile462Val), CYP1B1(Asn453Ser), GST M1, GSTP1 exon 5 (Ile105Val) and exon 6(Al... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Moreover, one haplotype consisting of rs1056827 and rs100012 in CYP1B1 gene was significantly associ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We report here an 8-year-old patient with 22q11.2 deletion syndrome and bilateral Peters anomaly wit... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| CYP1B1 mutation related congenital glaucoma can present with an extreme form of anterior segment dys... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| NA | DisGeNET | Detail |
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| Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-a... | DisGeNET | Detail |
| Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma. | DisGeNET | Detail |
| COMT 158G/A and CYP1B1 432C/G polymorphisms increase the risk of endometriosis and adenomyosis: a me... | DisGeNET | Detail |
| To investigate three genes associated with puberty timing in girls with central precocious puberty b... | DisGeNET | Detail |
| We report here an 8-year-old patient with 22q11.2 deletion syndrome and bilateral Peters anomaly wit... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| CYP1B1 Asn453Ser polymorphism and colorectal cancer risk: a meta-analysis. | DisGeNET | Detail |
| Association of a common coding polymorphism (N453S) of the cytochrome P450 1B1 (CYP1B1) gene with op... | DisGeNET | Detail |
| CYP1B1 Asn453Ser polymorphism and colorectal cancer risk: a meta-analysis. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| Effects of SNPs (CYP1B1*2 G355T, CYP1B1*3 C4326G, and CYP2E1*5 G-1293C), smoking, and drinking on su... | DisGeNET | Detail |
| Association between CYP1B1 gene polymorphisms and risk factors and susceptibility to laryngeal cance... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| CYP1B1 enhances the resistance of epithelial ovarian cancer cells to paclitaxel in vivo and in vitro... | DisGeNET | Detail |
| TCDD pretreatment induces disparity in the disposition of E2 to reactive quinonoid metabolites and t... | DisGeNET | Detail |
| In breast cancers expressing estrogen receptors (ERs), level of CYP1B1 is increased by E2 and revers... | DisGeNET | Detail |
| Among all analyzed genes, only CYP1B1 and ABCB1 resulted the strongest candidates to become biomarke... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| NA | DisGeNET | Detail |
| The expression profile of CYP1B1 suggests that it has the potential to be a useful diagnostic marker... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Finally, we used proliferation and toxicity assays, as well as a mouse xenograft model using nude mi... | DisGeNET | Detail |
| Association between CYP1A2 and CYP1B1 polymorphisms and colorectal cancer risk: a meta-analysis. | DisGeNET | Detail |
| This study confirms that CYP1B1 mutations are associated with POAG and PCG in the Pakistani populati... | DisGeNET | Detail |
| To understand the CYP1B1 mediated etiopathology of PCG and pathomechanism of various cancers, it is ... | DisGeNET | Detail |
| CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma. | DisGeNET | Detail |
| Multivariate analysis revealed that, after adjustment of the parameters that showed significant diff... | DisGeNET | Detail |
| Clinical Variability of Primary Congenital Glaucoma in a Spanish Family With Cyp1b1 Gene Mutations. | DisGeNET | Detail |
| CYP1B1 gene analysis and phenotypic correlation in Portuguese children with primary congenital glauc... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| When we corrected for multiple testing using these statistical tools, three novel associations of NS... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| NA | DisGeNET | Detail |
| Polymorphisms of the CYP1B1 gene and hepatocellular carcinoma risk in a Chinese population. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| CYP1B1 Leu432Val and Asn453Ser polymorphisms demonstrated an increased and decreased risk for endome... | DisGeNET | Detail |
| CYP1B1 Leu432Val and Asn453Ser polymorphisms demonstrated an increased and decreased risk for endome... | DisGeNET | Detail |
| CYP1B1 Leu432Val and Asn453Ser polymorphisms demonstrated an increased and decreased risk for endome... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A novel CYP1B1 mutation with congenital glaucoma and total aniridia. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| TCDD pretreatment induces disparity in the disposition of E2 to reactive quinonoid metabolites and t... | DisGeNET | Detail |
| In breast cancers expressing estrogen receptors (ERs), level of CYP1B1 is increased by E2 and revers... | DisGeNET | Detail |
| Among all analyzed genes, only CYP1B1 and ABCB1 resulted the strongest candidates to become biomarke... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Effects of SNPs (CYP1B1*2 G355T, CYP1B1*3 C4326G, and CYP2E1*5 G-1293C), smoking, and drinking on su... | DisGeNET | Detail |
| Association between CYP1B1 gene polymorphisms and risk factors and susceptibility to laryngeal cance... | DisGeNET | Detail |
| Cytochrome P450 1B1 (CYP1B1) polymorphisms are associated with clinical outcome of docetaxel in non-... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs100012 dbSNP
- Genome
- hg38
- Position
- chr2:38,067,509-38,109,902
- Variant Type
- snv
Genome browser