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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. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
[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。此蛋白质定位于内质网和催化雌激素生物合成的最后一个步骤。在这个基因的突变会导致无论是增加或减少芳香化酶活性;相关联的表型表明雌激素既作为性类固醇激素和生长或分化。选择性剪接结果在多个抄本变形。 [由RefSeq的,2014年5月提供]
CYP19A1基因(以及对应的蛋白质)的细胞分布位置:
CYP19A1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Aromatase deficiency | 0.24 | 6 | 0 | CTD_human_UNIPROT |
Endometriosis | 0.239873125 | 35 | 6 | BeFree_CTD_human_GAD_LHGDN_RGD |
Polycystic Ovary Syndrome | 0.228185143 | 23 | 2 | BeFree_CTD_human_GAD_LHGDN_RGD |
AROMATASE EXCESS SYNDROME | 0.206710102 | 16 | 1 | BeFree_GAD_MGD_ORPHANET |
Mammary Neoplasms | 0.198638907 | 40 | 0 | BeFree_CTD_human_GAD_LHGDN |
Prostatic Neoplasms | 0.133264433 | 7 | 0 | CTD_human_GAD_LHGDN |
Osteoporosis | 0.129987267 | 11 | 0 | BeFree_CTD_human_GAD_LHGDN |
Adenocarcinoma | 0.125276948 | 4 | 0 | BeFree_CTD_human_GAD |
Female infertility | 0.124734064 | 3 | 0 | CTD_human_GAD |
Ovarian Diseases | 0.123257302 | 13 | 3 | BeFree_CTD_human |
Autistic Disorder | 0.122638474 | 2 | 0 | BeFree_CTD_human_GAD |
Hypogonadism | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Sexual Infantilism | 0.120271442 | 1 | 0 | BeFree_CTD_human |
Amenorrhea | 0.12 | 1 | 0 | CTD_human |
Bone Resorption | 0.12 | 1 | 0 | CTD_human |
Esophageal Neoplasms | 0.12 | 1 | 0 | CTD_human |
Fatty Liver | 0.12 | 1 | 0 | CTD_human |
Fibrosis | 0.12 | 1 | 0 | CTD_human |
Hypopituitarism | 0.12 | 1 | 0 | CTD_human |
Peripheral Neuropathy | 0.12 | 1 | 0 | CTD_human |
Gestational Diabetes | 0.12 | 1 | 0 | CTD_human |
Malignant neoplasm of breast | 0.113930234 | 138 | 15 | BeFree_GAD |
Hypertensive disease | 0.087729856 | 4 | 0 | BeFree_GAD_LHGDN_RGD |
Tissue Adhesions | 0.08 | 1 | 0 | RGD |
Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
Diabetic Nephropathy | 0.08 | 1 | 0 | RGD |
Hypothyroidism | 0.08 | 1 | 0 | RGD |
Obsessive-Compulsive Disorder | 0.08 | 0 | 0 | MGD |
Placental Insufficiency | 0.08 | 1 | 0 | RGD |
Protein-Energy Malnutrition | 0.08 | 1 | 0 | RGD |
Reperfusion Injury | 0.08 | 1 | 0 | RGD |
Sjogren's Syndrome | 0.08 | 0 | 0 | MGD |
Malignant neoplasm of prostate | 0.050869384 | 24 | 2 | BeFree_GAD |
Endometrial Neoplasms | 0.041717136 | 14 | 0 | BeFree_GAD_LHGDN |
Breast Carcinoma | 0.033115908 | 122 | 15 | BeFree |
Alzheimer's Disease | 0.022474932 | 10 | 0 | BeFree_GAD_LHGDN |
Endometrial Carcinoma | 0.018816704 | 17 | 0 | BeFree_GAD |
Obesity | 0.016102285 | 10 | 0 | BeFree_GAD |
Malignant neoplasm of lung | 0.010553895 | 8 | 0 | BeFree_GAD |
Prostatic Hyperplasia | 0.00973957 | 4 | 0 | BeFree_GAD |
Osteoporosis, Postmenopausal | 0.009468128 | 4 | 1 | GAD |
Fibroid Tumor | 0.0089015 | 5 | 0 | BeFree_GAD_LHGDN |
Gynecomastia | 0.008358616 | 3 | 5 | BeFree_GAD_LHGDN |
Colorectal Cancer | 0.007915422 | 6 | 0 | BeFree_GAD |
Inflammation | 0.007458414 | 3 | 0 | GAD_LHGDN |
Premature Birth | 0.007101096 | 3 | 0 | GAD |
Prostate carcinoma | 0.006981544 | 17 | 2 | BeFree_GAD |
Lung Neoplasms | 0.005634266 | 4 | 0 | BeFree_GAD_LHGDN |
Degenerative polyarthritis | 0.005634266 | 2 | 1 | BeFree_GAD_LHGDN |
Ovarian Failure, Premature | 0.00554839 | 4 | 0 | BeFree_GAD |
Mammographic Density | 0.00554839 | 4 | 4 | BeFree_GAD |
ovarian neoplasm | 0.0054487 | 2 | 0 | LHGDN |
Male infertility | 0.005362824 | 3 | 0 | BeFree_GAD_LHGDN |
Malignant neoplasm of ovary | 0.005005506 | 2 | 0 | BeFree_GAD |
Endocrine System Diseases | 0.004734064 | 2 | 0 | GAD |
Precocious Puberty | 0.004734064 | 2 | 0 | GAD |
Menopause present (finding) | 0.004734064 | 2 | 0 | GAD |
Malignant neoplasm of endometrium | 0.00434307 | 16 | 0 | BeFree |
Uterine Corpus Cancer | 0.00434307 | 16 | 0 | BeFree |
Choriocarcinoma | 0.00408156 | 6 | 0 | BeFree_LHGDN |
Adrenocortical carcinoma | 0.003810118 | 5 | 0 | BeFree_LHGDN |
Neoplasm Metastasis | 0.003538676 | 4 | 0 | BeFree_LHGDN |
Endometrial Stromal Sarcoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Anaplastic thyroid carcinoma | 0.002985861 | 11 | 1 | BeFree |
Thyroid carcinoma | 0.002985861 | 11 | 1 | BeFree |
Rheumatoid Arthritis | 0.002909916 | 2 | 0 | BeFree_GAD |
Hyperandrogenism | 0.002909916 | 2 | 1 | BeFree_GAD |
Anoxia | 0.00272435 | 1 | 0 | LHGDN |
Atherosclerosis | 0.00272435 | 1 | 0 | LHGDN |
Glioblastoma | 0.00272435 | 1 | 0 | LHGDN |
Pelvic Pain | 0.00272435 | 1 | 0 | LHGDN |
polyps | 0.00272435 | 1 | 0 | LHGDN |
Uterine Diseases | 0.00272435 | 1 | 0 | LHGDN |
Disease Progression | 0.00272435 | 1 | 0 | LHGDN |
Bronchioloalveolar Adenocarcinoma | 0.002638474 | 1 | 0 | BeFree_GAD |
Cardiovascular Diseases | 0.002638474 | 2 | 0 | BeFree_GAD |
Coronary Arteriosclerosis | 0.002638474 | 1 | 0 | BeFree_GAD |
Lupus Erythematosus, Systemic | 0.002638474 | 1 | 0 | BeFree_GAD |
Ovarian Hyperstimulation Syndrome | 0.002638474 | 1 | 0 | BeFree_GAD |
Migraine Disorders | 0.002638474 | 2 | 0 | BeFree_GAD |
Female Pseudohermaphroditism | 0.002638474 | 1 | 0 | BeFree_GAD |
Hot flushes | 0.002638474 | 2 | 0 | BeFree_GAD |
Abortion, Habitual | 0.002367032 | 1 | 0 | GAD |
Alopecia | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD |
Hypertrophic Cardiomyopathy | 0.002367032 | 1 | 0 | GAD |
Connective Tissue Diseases | 0.002367032 | 1 | 0 | GAD |
Fetal Diseases | 0.002367032 | 1 | 0 | GAD |
Pathological fracture | 0.002367032 | 1 | 0 | GAD |
Hyperplasia | 0.002367032 | 1 | 0 | GAD |
Infertility | 0.002367032 | 1 | 0 | GAD |
Insulin Resistance | 0.002367032 | 1 | 0 | GAD |
Liver Cirrhosis | 0.002367032 | 1 | 0 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Lymphoma, Non-Hodgkin | 0.002367032 | 1 | 0 | GAD |
Mycetoma | 0.002367032 | 1 | 0 | GAD |
Musculoskeletal Diseases | 0.002367032 | 1 | 0 | GAD |
Obesity, Morbid | 0.002367032 | 1 | 0 | GAD |
Parkinson Disease | 0.002367032 | 1 | 0 | GAD |
Precancerous Conditions | 0.002367032 | 1 | 0 | GAD |
Pregnancy Complications, Hematologic | 0.002367032 | 1 | 0 | GAD |
Delayed Puberty | 0.002367032 | 1 | 0 | GAD |
Dermatologic disorders | 0.002367032 | 1 | 0 | GAD |
Stomach Neoplasms | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Uterine Neoplasms | 0.002367032 | 1 | 0 | GAD |
Peripheral Vascular Diseases | 0.002367032 | 1 | 0 | GAD |
Left Ventricular Hypertrophy | 0.002367032 | 1 | 0 | GAD |
Thrombophilia | 0.002367032 | 1 | 0 | GAD |
Hepatopulmonary Syndrome | 0.002367032 | 1 | 0 | GAD |
Epithelial ovarian cancer | 0.002367032 | 1 | 0 | GAD |
Pregnancy loss | 0.002367032 | 1 | 0 | GAD |
Testicular Germ Cell Tumor | 0.002367032 | 1 | 0 | GAD |
Maduromycosis | 0.002367032 | 1 | 0 | GAD |
Weight Loss Adverse Event | 0.002367032 | 1 | 0 | GAD |
Juvenile arthritis | 0.002367032 | 1 | 0 | GAD |
Infection | 0.002367032 | 1 | 0 | GAD |
Carcinogenesis | 0.001900093 | 7 | 0 | BeFree |
Malignant neoplasm of thyroid | 0.001628651 | 6 | 1 | BeFree |
Uterine Fibroids | 0.001357209 | 5 | 0 | BeFree |
Benign Prostatic Hyperplasia | 0.001357209 | 5 | 0 | BeFree |
Thyroid Neoplasm | 0.001085767 | 4 | 0 | BeFree |
Oestrogen deficiency | 0.001085767 | 4 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Colorectal Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Liver neoplasms | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000814326 | 3 | 0 | BeFree |
Pituitary Diseases | 0.000814326 | 3 | 0 | BeFree |
Transsexualism | 0.000814326 | 3 | 0 | BeFree |
Virilism | 0.000814326 | 3 | 1 | BeFree |
Carcinoma breast stage IV | 0.000814326 | 3 | 0 | BeFree |
Carcinoma of lung | 0.000814326 | 3 | 0 | BeFree |
Stomach Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Liver carcinoma | 0.000814326 | 3 | 0 | BeFree |
Rectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Cryptorchidism | 0.000542884 | 2 | 1 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000542884 | 2 | 0 | BeFree |
Glioma | 0.000542884 | 2 | 0 | BeFree |
Premature Menopause | 0.000542884 | 2 | 0 | BeFree |
Hyperestrogenism | 0.000542884 | 2 | 0 | BeFree |
Anaplastic carcinoma | 0.000542884 | 2 | 0 | BeFree |
Undifferentiated carcinoma | 0.000542884 | 2 | 0 | BeFree |
Endometrioma | 0.000542884 | 2 | 0 | BeFree |
Precocious pubarche | 0.000542884 | 2 | 0 | BeFree |
Tumors of Adrenal Cortex | 0.000271442 | 1 | 0 | BeFree |
Aortic Aneurysm | 0.000271442 | 1 | 0 | BeFree |
Aortic Valve Insufficiency | 0.000271442 | 1 | 0 | BeFree |
Arthralgia | 0.000271442 | 1 | 0 | BeFree |
Bladder neck obstruction | 0.000271442 | 1 | 0 | BeFree |
Female Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma, Papillary | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of cervix | 0.000271442 | 1 | 0 | BeFree |
Cholera | 0.000271442 | 1 | 0 | BeFree |
Coenuriasis | 0.000271442 | 1 | 0 | BeFree |
Down Syndrome | 0.000271442 | 1 | 0 | BeFree |
Breast Fibrocystic Disease | 0.000271442 | 1 | 0 | BeFree |
Froehlich's Syndrome | 0.000271442 | 1 | 0 | BeFree |
Psychosexual identity disorder | 0.000271442 | 1 | 0 | BeFree |
Graves Disease | 0.000271442 | 1 | 0 | BeFree |
Hepatitis | 0.000271442 | 1 | 0 | BeFree |
Hepatitis A | 0.000271442 | 1 | 0 | BeFree |
Hernia, Inguinal | 0.000271442 | 1 | 0 | BeFree |
Speech and language disorder | 0.000271442 | 1 | 0 | BeFree |
Leydig Cell Tumor | 0.000271442 | 1 | 0 | BeFree |
Nodule | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pain | 0.000271442 | 1 | 0 | BeFree |
Turner Syndrome | 0.000271442 | 1 | 0 | BeFree |
Depressive Symptoms | 0.000271442 | 1 | 1 | BeFree |
Secondary malignant neoplasm of bone | 0.000271442 | 1 | 0 | BeFree |
Uterine Polyp | 0.000271442 | 1 | 0 | BeFree |
Idiopathic osteoporosis | 0.000271442 | 1 | 0 | BeFree |
Adrenal Cortical Adenoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of female breast | 0.000271442 | 1 | 0 | BeFree |
Alcohol withdrawal syndrome | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of Male Breast | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of male breast | 0.000271442 | 1 | 0 | BeFree |
Stage III Breast Cancer AJCC v6 | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma Of Esophagus | 0.000271442 | 1 | 10 | BeFree |
bilateral breast cancer | 0.000271442 | 1 | 0 | BeFree |
Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
Leydig cell tumor, benign | 0.000271442 | 1 | 0 | BeFree |
Impaired cognition | 0.000271442 | 1 | 3 | BeFree |
Idiopathic hirsutism | 0.000271442 | 1 | 0 | BeFree |
Precocious Puberty, Central | 0.000271442 | 1 | 0 | BeFree |
Idiopathic central precocious puberty | 0.000271442 | 1 | 0 | BeFree |
Malignant mesothelioma | 0.000271442 | 1 | 0 | BeFree |
Bilateral Cryptorchidism | 0.000271442 | 1 | 0 | BeFree |
Dyslexia | 0.000271442 | 1 | 0 | BeFree |
Loss of scalp hair | 0.000271442 | 1 | 0 | BeFree |
Lower Urinary Tract Symptoms | 0.000271442 | 1 | 0 | BeFree |
Tumor Initiation | 0.000271442 | 1 | 0 | BeFree |
Premenopausal breast cancer | 0.000271442 | 1 | 0 | BeFree |
Developmental reading disorder | 0.000271442 | 1 | 0 | BeFree |
Metastatic Prostate Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Dysmetabolic syndrome | 0.000271442 | 1 | 0 | BeFree |
Conventional Chondrosarcoma | 0.000271442 | 1 | 0 | BeFree |
Endometrial Polyp | 0.000271442 | 1 | 0 | BeFree |
Azoospermia, Nonobstructive | 0.000271442 | 1 | 0 | BeFree |
malignant neoplasm of breast staging | 0.000271442 | 1 | 0 | BeFree |
Stage III Breast Cancer AJCC v7 | 0.000271442 | 1 | 0 | BeFree |
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