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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. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基??因编码的酶的细胞色素P450超家族的成员。细胞色素P450蛋白是能催化涉及药物代谢和胆固醇,类固醇和其他脂类的合成许多反应单加氧酶。由该基因编码的酶定位于内质网和代谢前致癌物如多环芳烃和17-β-雌二醇。在这个基因的突变已与主先天性青光眼相关联;因此可以认为,这种酶也代谢涉及眼发展,可能是类固醇信号传导分子。 [由RefSeq的,2008年7月提供]
CYP1B1基因(以及对应的蛋白质)的细胞分布位置:
CYP1B1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Glaucoma, Primary Open Angle | 0.365700279 | 26 | 12 | BeFree_CLINVAR_CTD_human_UNIPROT |
Irido-corneo-trabecular dysgenesis (disorder) | 0.361085767 | 4 | 3 | BeFree_CLINVAR_CTD_human_ORPHANET |
GLAUCOMA 3, PRIMARY CONGENITAL, A | 0.32 | 15 | 14 | CTD_human_MGD_UNIPROT |
GLAUCOMA 1, OPEN ANGLE, A | 0.24 | 1 | 1 | CTD_human_UNIPROT |
Mammary Neoplasms | 0.236145002 | 19 | 0 | BeFree_CTD_human_GAD_LHGDN_RGD |
Cardiomegaly | 0.2 | 2 | 0 | CTD_human_RGD |
Hydrophthalmos | 0.134701468 | 30 | 10 | BeFree_CLINVAR_GAD |
Squamous cell carcinoma | 0.133192369 | 10 | 0 | BeFree_CTD_human_GAD |
Prostatic Neoplasms | 0.130897401 | 5 | 0 | CTD_human_LHGDN |
Lung Neoplasms | 0.127815732 | 4 | 0 | CTD_human_GAD_LHGDN |
Colorectal Neoplasms | 0.127458414 | 4 | 0 | CTD_human_GAD_LHGDN |
ovarian neoplasm | 0.1254487 | 2 | 0 | CTD_human_LHGDN |
Adenoma | 0.122367032 | 2 | 0 | CTD_human_GAD |
melanoma | 0.120271442 | 1 | 0 | BeFree_CTD_human |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Contact Dermatitis | 0.12 | 1 | 0 | CTD_human |
Mouth Neoplasms | 0.12 | 1 | 0 | CTD_human |
Malignant neoplasm of breast | 0.096829396 | 76 | 8 | BeFree_GAD |
Glaucoma | 0.094130126 | 60 | 1 | BeFree_GAD_LHGDN |
Squamous cell carcinoma of esophagus | 0.080271442 | 2 | 0 | BeFree_RGD |
Glaucoma, Open-Angle | 0.041730949 | 18 | 1 | BeFree_GAD_LHGDN |
Malignant neoplasm of prostate | 0.041205759 | 27 | 6 | BeFree_GAD |
Malignant neoplasm of lung | 0.033290337 | 22 | 2 | BeFree_GAD |
Colorectal Cancer | 0.029837538 | 18 | 9 | BeFree_GAD |
Primary congenital glaucoma | 0.025168149 | 84 | 4 | BeFree_GAD |
Endometrial Carcinoma | 0.017459494 | 16 | 3 | BeFree_GAD |
Breast Carcinoma | 0.016829396 | 62 | 8 | BeFree |
Endometrial Neoplasms | 0.015274147 | 6 | 0 | GAD_LHGDN |
Malignant neoplasm of ovary | 0.014278137 | 13 | 0 | BeFree_GAD |
Head and Neck Neoplasms | 0.012192478 | 4 | 0 | GAD_LHGDN |
Malignant neoplasm of urinary bladder | 0.011368221 | 9 | 3 | BeFree_GAD |
Lymphoma, Non-Hodgkin | 0.009468128 | 4 | 0 | GAD |
Mammographic Density | 0.008186863 | 6 | 2 | BeFree_GAD |
Adenocarcinoma | 0.008087174 | 3 | 0 | BeFree_GAD_LHGDN |
Endometriosis | 0.007915422 | 5 | 0 | BeFree_GAD |
Hot flushes | 0.005819831 | 4 | 0 | BeFree_GAD |
Prostate carcinoma | 0.005700279 | 21 | 6 | BeFree |
Fibroid Tumor | 0.005362824 | 2 | 2 | BeFree_GAD_LHGDN |
Chronic Obstructive Airway Disease | 0.005005506 | 3 | 0 | BeFree_GAD |
Carcinoma of lung | 0.004885954 | 18 | 2 | BeFree |
Chronic Lymphocytic Leukemia | 0.004734064 | 2 | 0 | GAD |
Parkinson Disease | 0.004734064 | 2 | 0 | GAD |
Tobacco Use Disorder | 0.004734064 | 2 | 0 | GAD |
Menopause present (finding) | 0.004734064 | 2 | 0 | GAD |
Carcinogenesis | 0.004614512 | 17 | 0 | BeFree |
Colorectal Carcinoma | 0.003257302 | 12 | 9 | BeFree |
Malignant neoplasm of endometrium | 0.002985861 | 11 | 3 | BeFree |
Uterine Corpus Cancer | 0.002985861 | 11 | 3 | BeFree |
Cardiovascular Diseases | 0.002909916 | 2 | 0 | BeFree_GAD |
Ocular Hypertension | 0.002909916 | 3 | 0 | BeFree_GAD |
Malignant neoplasm of pancreas | 0.002909916 | 2 | 0 | BeFree_GAD |
Malignant neoplasm of kidney | 0.002909916 | 3 | 1 | BeFree_GAD |
Spontaneous abortion | 0.00272435 | 1 | 0 | LHGDN |
Glioma | 0.00272435 | 1 | 0 | LHGDN |
Kidney Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Asthma | 0.002638474 | 1 | 3 | BeFree_GAD |
Hypertensive disease | 0.002638474 | 2 | 0 | BeFree_GAD |
Multiple Myeloma | 0.002638474 | 1 | 0 | BeFree_GAD |
Low Tension Glaucoma | 0.002638474 | 2 | 0 | BeFree_GAD |
Malignant neoplasm of liver | 0.002638474 | 2 | 0 | BeFree_GAD |
Ovarian Carcinoma | 0.002442977 | 9 | 0 | BeFree |
Autistic Disorder | 0.002367032 | 1 | 0 | GAD |
Intrahepatic Cholestasis | 0.002367032 | 1 | 0 | GAD |
Deafness | 0.002367032 | 1 | 0 | GAD |
DNA Damage | 0.002367032 | 1 | 0 | GAD |
Endocrine System Diseases | 0.002367032 | 1 | 0 | GAD |
Angle Closure Glaucoma | 0.002367032 | 1 | 0 | GAD |
Hearing Loss, Partial | 0.002367032 | 1 | 0 | GAD |
Hypopharyngeal Neoplasms | 0.002367032 | 1 | 0 | GAD |
Laryngeal neoplasm | 0.002367032 | 1 | 0 | GAD |
Lung diseases | 0.002367032 | 1 | 0 | GAD |
Lymphoma, Follicular | 0.002367032 | 1 | 0 | GAD |
Mycetoma | 0.002367032 | 1 | 0 | GAD |
Animal Mammary Neoplasms | 0.002367032 | 1 | 0 | GAD |
Mesothelioma | 0.002367032 | 1 | 0 | GAD |
Osteoporosis, Postmenopausal | 0.002367032 | 1 | 0 | GAD |
Pancreatic Neoplasm | 0.002367032 | 1 | 0 | GAD |
Pleural Neoplasms | 0.002367032 | 1 | 0 | GAD |
Pregnancy Complications | 0.002367032 | 1 | 0 | GAD |
Stomach Neoplasms | 0.002367032 | 1 | 0 | GAD |
Uterine Neoplasms | 0.002367032 | 1 | 0 | GAD |
Diffuse Large B-Cell Lymphoma | 0.002367032 | 1 | 0 | GAD |
Alcohol abuse | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of testis | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of brain | 0.002367032 | 1 | 0 | GAD |
Pregnancy loss | 0.002367032 | 1 | 0 | GAD |
Genomic Instability | 0.002367032 | 1 | 0 | GAD |
Invasive Ductal Breast Carcinoma | 0.002367032 | 1 | 0 | GAD |
Testicular Germ Cell Tumor | 0.002367032 | 1 | 0 | GAD |
hearing impairment | 0.002367032 | 1 | 0 | GAD |
Maduromycosis | 0.002367032 | 1 | 0 | GAD |
Hearing Loss | 0.002367032 | 1 | 0 | GAD |
Carcinoma of bladder | 0.001900093 | 7 | 3 | BeFree |
Intraocular pressure disorder | 0.001357209 | 5 | 0 | BeFree |
Glaucoma of childhood | 0.001357209 | 5 | 1 | BeFree |
Uterine Fibroids | 0.001085767 | 4 | 7 | BeFree |
Squamous cell carcinoma of the head and neck | 0.001085767 | 4 | 0 | BeFree |
Liver carcinoma | 0.001085767 | 4 | 0 | BeFree |
Congenital Abnormality | 0.000814326 | 3 | 0 | BeFree |
Aniridia | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of larynx | 0.000814326 | 3 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000814326 | 3 | 8 | BeFree |
Renal Cell Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Irido-corneal dysgenesis | 0.000814326 | 3 | 0 | BeFree |
Cancer of Head and Neck | 0.000814326 | 3 | 0 | BeFree |
Breast Fibrocystic Disease | 0.000542884 | 2 | 0 | BeFree |
Primary angle-closure glaucoma | 0.000542884 | 2 | 0 | BeFree |
Atrial Septal Defects | 0.000542884 | 2 | 0 | BeFree |
Liver neoplasms | 0.000542884 | 2 | 0 | BeFree |
Lymphoma | 0.000542884 | 2 | 1 | BeFree |
Obesity | 0.000542884 | 2 | 0 | BeFree |
Pancreatic carcinoma | 0.000542884 | 2 | 0 | BeFree |
Menopausal symptom | 0.000542884 | 2 | 1 | BeFree |
Carcinoma of larynx | 0.000542884 | 2 | 0 | BeFree |
Premenopausal breast cancer | 0.000542884 | 2 | 2 | BeFree |
Malignant Squamous Cell Neoplasm | 0.000542884 | 2 | 0 | BeFree |
Slow acetylator due to N-acetyltransferase enzyme variant | 0.000542884 | 2 | 0 | BeFree |
Early-Onset Glaucoma | 0.000542884 | 2 | 0 | BeFree |
Bladder Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Female Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of cervix | 0.000271442 | 1 | 0 | BeFree |
Choriocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
Congenital ocular coloboma (disorder) | 0.000271442 | 1 | 0 | BeFree |
Colonic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
DiGeorge Syndrome | 0.000271442 | 1 | 0 | BeFree |
Esophageal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukoplakia, Oral | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
Meningioma | 0.000271442 | 1 | 1 | BeFree |
Metabolic Diseases | 0.000271442 | 1 | 0 | BeFree |
Microphthalmos | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Osteoporosis | 0.000271442 | 1 | 1 | BeFree |
Precancerous Conditions | 0.000271442 | 1 | 0 | BeFree |
Preleukemia | 0.000271442 | 1 | 0 | BeFree |
Precocious Puberty | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Emphysema | 0.000271442 | 1 | 0 | BeFree |
Retinal Diseases | 0.000271442 | 1 | 0 | BeFree |
Vascular Diseases | 0.000271442 | 1 | 0 | BeFree |
B-Cell Lymphomas | 0.000271442 | 1 | 1 | BeFree |
Li-Fraumeni Syndrome | 0.000271442 | 1 | 0 | BeFree |
Depressive Symptoms | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 2 | BeFree |
Esophageal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Idiopathic pulmonary hypertension | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of gallbladder | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Hepatocellular Adenoma | 0.000271442 | 1 | 0 | BeFree |
Shprintzen syndrome | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of female breast | 0.000271442 | 1 | 0 | BeFree |
Gallbladder Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Gastrointestinal Stromal Tumors | 0.000271442 | 1 | 3 | BeFree |
Hereditary pancreatitis | 0.000271442 | 1 | 0 | BeFree |
Endometriosis of pelvis | 0.000271442 | 1 | 0 | BeFree |
Primary amyloidosis | 0.000271442 | 1 | 0 | BeFree |
Stage IV Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
Multiple adenomatous polyps | 0.000271442 | 1 | 1 | BeFree |
Endometriosis of uterus | 0.000271442 | 1 | 0 | BeFree |
Precocious Puberty, Central | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of esophagus | 0.000271442 | 1 | 0 | BeFree |
Aqueous Humor Disorders | 0.000271442 | 1 | 0 | BeFree |
Chemical Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Tumor Initiation | 0.000271442 | 1 | 0 | BeFree |
Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Oculo-dento-digital syndrome | 0.000271442 | 1 | 0 | BeFree |
Invasive breast carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinogenicity | 0.000271442 | 1 | 0 | BeFree |
Intraepithelial Neoplasia | 0.000271442 | 1 | 0 | BeFree |
Metastatic Prostate Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Ductal Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Renal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Mammary Tumorigenesis | 0.000271442 | 1 | 0 | BeFree |
Xenograft Model | 0.000271442 | 1 | 0 | BeFree |
Benign Prostatic Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Meningioma, benign, no ICD-O subtype | 0.000271442 | 1 | 1 | BeFree |
Prostate cancer, familial | 0.000271442 | 1 | 0 | BeFree |
Pulmonary arterial hypertension | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia | 0.000271442 | 1 | 0 | BeFree |
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