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This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
[中文简述(自动翻译):]  该基因编码型胶原第十八的α链。此胶原蛋白是包含由非胶原结构域中断多个三重螺旋结构域(胶原域)的multiplexins,胞外基质蛋白中的一个。的蛋白的长同种型具有一个N-末端结构域是同源卷曲受体的胞外部分。在生产中内皮抑素,一种有效的抗血管生成蛋白质,其能够抑制血管生成和肿瘤生长的C-末端结构域的结果几内源性切割位点的蛋白水解加工。在这种基因突变与克诺布洛赫综合征。这种综合征的主要特征涉及视网膜异常,所以类型XVIII胶原可在视??网膜结构和神经管闭合发挥重要的作用。选择性剪接结果在多个抄本变形。 [由RefSeq的,2014年12月提供]
COL18A1基因(以及对应的蛋白质)的细胞分布位置:
COL18A1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Knobloch syndrome | 0.442442977 | 9 | 1 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET |
Calcinosis | 0.12 | 1 | 0 | CTD_human |
Heart valve disease | 0.12 | 1 | 0 | CTD_human |
Hemangiosarcoma | 0.12 | 1 | 0 | CTD_human |
Intellectual Disability | 0.12 | 1 | 0 | CTD_human |
Liver carcinoma | 0.088153188 | 21 | 0 | BeFree_LHGDN_RGD |
Colonic Neoplasms | 0.080271442 | 2 | 0 | BeFree_RGD |
Ulcerative Colitis | 0.08 | 1 | 0 | RGD |
Fibrosis | 0.08 | 1 | 0 | RGD |
Mammary Neoplasms, Experimental | 0.08 | 1 | 0 | RGD |
Gastric ulcer | 0.08 | 1 | 0 | RGD |
Pigment dispersion syndrome (disorder) | 0.08 | 0 | 0 | MGD |
Mammary Neoplasms | 0.009258818 | 6 | 0 | BeFree_LHGDN |
Malignant neoplasm of breast | 0.00853425 | 15 | 0 | BeFree_GAD |
Malignant neoplasm of prostate | 0.006362715 | 6 | 0 | BeFree_GAD |
Alzheimer's Disease | 0.0054487 | 2 | 0 | LHGDN |
Multiple Myeloma | 0.005091382 | 2 | 0 | GAD_LHGDN |
Neoplasm Metastasis | 0.004614512 | 17 | 0 | BeFree |
Glioma | 0.004353001 | 7 | 0 | BeFree_LHGDN |
Malignant neoplasm of urinary bladder | 0.004267125 | 8 | 0 | BeFree_GAD |
Tumor Angiogenesis | 0.004071628 | 15 | 0 | BeFree |
Breast Carcinoma | 0.003800186 | 14 | 0 | BeFree |
Malignant neoplasm of lung | 0.003724241 | 6 | 0 | BeFree_GAD |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Ovarian Carcinoma | 0.003257302 | 12 | 0 | BeFree |
Endometriosis | 0.003181358 | 3 | 0 | BeFree_GAD |
Bladder Neoplasm | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Chronic Lymphocytic Leukemia | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Leukemia, Myelocytic, Acute | 0.002995792 | 2 | 0 | BeFree_LHGDN |
ovarian neoplasm | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Liver neoplasms | 0.002985861 | 11 | 0 | BeFree |
Lung Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Malaria, Cerebral | 0.00272435 | 1 | 0 | LHGDN |
Odontogenic Tumors | 0.00272435 | 1 | 0 | LHGDN |
Pancreatic Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Stomach Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Thyroid Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Choroidal Neovascularization | 0.00272435 | 1 | 0 | LHGDN |
Idiopathic Pulmonary Fibrosis | 0.00272435 | 1 | 0 | LHGDN |
Coronary Artery Disease | 0.00272435 | 1 | 0 | LHGDN |
Solid tumour | 0.002714419 | 10 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.002638474 | 1 | 0 | BeFree_GAD |
Liver Cirrhosis | 0.002638474 | 2 | 0 | BeFree_GAD |
Obesity | 0.002638474 | 1 | 0 | BeFree_GAD |
Gastric Adenocarcinoma | 0.002638474 | 1 | 0 | BeFree_GAD |
Malignant neoplasm of ovary | 0.002442977 | 9 | 0 | BeFree |
Head and Neck Neoplasms | 0.002367032 | 1 | 0 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Myopia | 0.002367032 | 1 | 0 | GAD |
Neoplasm Recurrence, Local | 0.002367032 | 1 | 0 | GAD |
Neoplasms, Second Primary | 0.002367032 | 1 | 0 | GAD |
Atopy | 0.002367032 | 1 | 0 | GAD |
Hepatopulmonary Syndrome | 0.002367032 | 1 | 0 | GAD |
Renal Cell Carcinoma | 0.002171535 | 8 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.001900093 | 7 | 0 | BeFree |
Carcinoma of bladder | 0.001900093 | 7 | 0 | BeFree |
Glioblastoma | 0.001628651 | 6 | 0 | BeFree |
Secondary malignant neoplasm of lung | 0.001628651 | 6 | 0 | BeFree |
Carcinoma, Lewis Lung | 0.001628651 | 6 | 0 | BeFree |
Colon Carcinoma | 0.001628651 | 6 | 0 | BeFree |
Herpes Simplex Infections | 0.001357209 | 5 | 0 | BeFree |
Pancreatic carcinoma | 0.001357209 | 5 | 0 | BeFree |
Liver and Intrahepatic Biliary Tract Carcinoma | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of liver | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.001357209 | 5 | 0 | BeFree |
Prostate carcinoma | 0.001357209 | 5 | 0 | BeFree |
Epithelial ovarian cancer | 0.001357209 | 5 | 0 | BeFree |
Carcinoma of lung | 0.001357209 | 5 | 0 | BeFree |
Nasopharyngeal carcinoma | 0.001357209 | 5 | 0 | BeFree |
Malignant tumor of colon | 0.001085767 | 4 | 0 | BeFree |
Colorectal Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Squamous cell carcinoma of the head and neck | 0.001085767 | 4 | 0 | BeFree |
Colorectal Cancer | 0.001085767 | 4 | 0 | BeFree |
tumor vasculature | 0.001085767 | 4 | 0 | BeFree |
Immunologic Deficiency Syndromes | 0.000814326 | 3 | 0 | BeFree |
leukemia | 0.000814326 | 3 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000814326 | 3 | 0 | BeFree |
Corneal Neovascularization | 0.000814326 | 3 | 0 | BeFree |
Tumor Progression | 0.000814326 | 3 | 0 | BeFree |
Metastatic malignant neoplasm to brain | 0.000814326 | 3 | 0 | BeFree |
Metastatic Renal Cell Cancer | 0.000814326 | 3 | 0 | BeFree |
Glaucoma, Primary Open Angle | 0.000814326 | 3 | 0 | BeFree |
Xenograft Model | 0.000814326 | 3 | 0 | BeFree |
Non-Malignant Ascites Adverse Event | 0.000814326 | 3 | 0 | BeFree |
Adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
Squamous cell carcinoma | 0.000542884 | 2 | 0 | BeFree |
Down Syndrome | 0.000542884 | 2 | 0 | BeFree |
Congenital cerebral hernia | 0.000542884 | 2 | 0 | BeFree |
Neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Osteosarcoma | 0.000542884 | 2 | 0 | BeFree |
Uremia | 0.000542884 | 2 | 0 | BeFree |
Age related macular degeneration | 0.000542884 | 2 | 0 | BeFree |
Carcinoma breast stage IV | 0.000542884 | 2 | 0 | BeFree |
Osteosarcoma of bone | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Central neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Tumor-Associated Vasculature | 0.000542884 | 2 | 0 | BeFree |
Brain Edema | 0.000542884 | 2 | 0 | BeFree |
androgen independent prostate cancer | 0.000542884 | 2 | 0 | BeFree |
Adenoma | 0.000271442 | 1 | 0 | BeFree |
Arthritis, Adjuvant-Induced | 0.000271442 | 1 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Brain Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of prostate | 0.000271442 | 1 | 0 | BeFree |
Occipital Encephalocele | 0.000271442 | 1 | 0 | BeFree |
Epilepsy | 0.000271442 | 1 | 0 | BeFree |
Hemangioendothelioma | 0.000271442 | 1 | 0 | BeFree |
Herpes NOS | 0.000271442 | 1 | 0 | BeFree |
Hydrocephalus | 0.000271442 | 1 | 0 | BeFree |
Hypertensive disease | 0.000271442 | 1 | 0 | BeFree |
Congenital hypoplasia | 0.000271442 | 1 | 0 | BeFree |
Keloid | 0.000271442 | 1 | 0 | BeFree |
Kidney Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Liver diseases | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
Measles | 0.000271442 | 1 | 0 | BeFree |
Medulloblastoma | 0.000271442 | 1 | 0 | BeFree |
Neoplasms, Experimental | 0.000271442 | 1 | 0 | BeFree |
nervous system disorder | 0.000271442 | 1 | 0 | BeFree |
Pituitary Diseases | 0.000271442 | 1 | 0 | BeFree |
Adenomatous Polyposis Coli | 0.000271442 | 1 | 0 | BeFree |
Retinopathy of Prematurity | 0.000271442 | 1 | 0 | BeFree |
Fibromatosis, Aggressive | 0.000271442 | 1 | 0 | BeFree |
Pleural Effusion, Malignant | 0.000271442 | 1 | 0 | BeFree |
Idiopathic pulmonary hypertension | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of gallbladder | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of brain | 0.000271442 | 1 | 0 | BeFree |
Kallmann Syndrome | 0.000271442 | 1 | 0 | BeFree |
Follicular thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Fibrosis, Liver | 0.000271442 | 1 | 0 | BeFree |
Dermatomyositis, Childhood Type | 0.000271442 | 1 | 0 | BeFree |
Congenital anomaly of brain | 0.000271442 | 1 | 0 | BeFree |
Cancer of Head and Neck | 0.000271442 | 1 | 0 | BeFree |
Vitelliform Macular Dystrophy | 0.000271442 | 1 | 0 | BeFree |
Congenital anosmia | 0.000271442 | 1 | 0 | BeFree |
Poikiloderma of Kindler | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Recurrent tumor | 0.000271442 | 1 | 0 | BeFree |
Sentinel node (disorder) | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Primary malignant neoplasm of brain | 0.000271442 | 1 | 0 | BeFree |
Invasive breast carcinoma | 0.000271442 | 1 | 0 | BeFree |
Renal ischaemia | 0.000271442 | 1 | 0 | BeFree |
Single tumor | 0.000271442 | 1 | 0 | BeFree |
Sporadic Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Renal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Vascular lesions | 0.000271442 | 1 | 0 | BeFree |
Angiogenic Switch | 0.000271442 | 1 | 0 | BeFree |
Breast Cancer Model | 0.000271442 | 1 | 0 | BeFree |
Hepatocarcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma Multiforme | 0.000271442 | 1 | 0 | BeFree |
Renal tubular necrosis | 0.000271442 | 1 | 0 | BeFree |
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA | 0.000271442 | 1 | 0 | BeFree |
Juvenile dermatomyositis | 0.000271442 | 1 | 0 | BeFree |
Pulmonary arterial hypertension | 0.000271442 | 1 | 0 | BeFree |
Early-Stage Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia | 0.000271442 | 1 | 0 | BeFree |
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