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This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
[中文简述(自动翻译):]  这个基因编码IV型胶原,基底膜的主要结构部件的六个亚基之一。在这种基因突变与X连锁Alport综合征,也称为遗传性肾炎相关联。 IV型胶原的基因家族的其他成员一样,该基因是在头 - 头构型与另一个IV型胶原的基因,使得每个基因对共享通用启动子组织。另外剪接转录变体已被确定为这个基因。 [由RefSeq的,2010年8月提供]
COL4A5基因(以及对应的蛋白质)的细胞分布位置:
COL4A5基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Alport Syndrome, X-Linked | 0.575472187 | 71 | 491 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Leiomyoma, Epithelioid | 0.12 | 1 | 0 | CTD_human |
Hereditary nephritis | 0.035873561 | 16 | 1 | BeFree_GAD_LHGDN |
Alport Syndrome | 0.033430958 | 98 | 2 | BeFree_GAD |
Adenocarcinoma | 0.003538676 | 4 | 0 | BeFree_LHGDN |
Leiomyomatosis | 0.003528744 | 13 | 0 | BeFree |
Kidney Diseases | 0.003257302 | 12 | 0 | BeFree |
Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
IGA Glomerulonephritis | 0.00272435 | 1 | 0 | LHGDN |
Exostoses | 0.00272435 | 1 | 0 | LHGDN |
Chorioamnionitis | 0.002367032 | 1 | 0 | GAD |
Deafness | 0.002367032 | 1 | 0 | GAD |
Eye Diseases, Hereditary | 0.002367032 | 1 | 0 | GAD |
Fetal Membranes, Premature Rupture | 0.002367032 | 1 | 0 | GAD |
Hearing Loss, Partial | 0.002367032 | 1 | 0 | GAD |
Premature Obstetric Labor | 0.002367032 | 1 | 0 | GAD |
Pre-Eclampsia | 0.002367032 | 1 | 0 | GAD |
Premature Birth | 0.002367032 | 1 | 0 | GAD |
hearing impairment | 0.002367032 | 1 | 0 | GAD |
Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | 0.002367032 | 1 | 0 | GAD |
Hearing Loss | 0.002367032 | 1 | 0 | GAD |
Kidney Failure | 0.001628651 | 6 | 0 | BeFree |
Thin basement membrane disease | 0.001628651 | 6 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.001357209 | 5 | 0 | BeFree |
Glomerulonephritis | 0.001085767 | 4 | 0 | BeFree |
Kidney Failure, Chronic | 0.001085767 | 4 | 0 | BeFree |
Nephritis | 0.001085767 | 4 | 0 | BeFree |
Retinal Diseases | 0.001085767 | 4 | 0 | BeFree |
Hematuria, Benign Familial | 0.001085767 | 4 | 0 | BeFree |
Dissecting aneurysm of the thoracic aorta | 0.001085767 | 4 | 0 | BeFree |
Hearing Loss, Mixed Conductive-Sensorineural | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of lung | 0.000814326 | 3 | 0 | BeFree |
Renal glomerular disease | 0.000814326 | 3 | 0 | BeFree |
Carcinoma of lung | 0.000814326 | 3 | 0 | BeFree |
Chronic kidney disease stage 5 | 0.000814326 | 3 | 0 | BeFree |
Angelman Syndrome | 0.000542884 | 2 | 0 | BeFree |
Familial hematuria | 0.000542884 | 2 | 0 | BeFree |
Intellectual Disability | 0.000542884 | 2 | 0 | BeFree |
Aortic Diseases | 0.000271442 | 1 | 0 | BeFree |
Asthma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Chondrosarcoma | 0.000271442 | 1 | 0 | BeFree |
Congenital cataract | 0.000271442 | 1 | 0 | BeFree |
Dermatomyositis | 0.000271442 | 1 | 0 | BeFree |
Epilepsy | 0.000271442 | 1 | 0 | BeFree |
Sensorineural Hearing Loss (disorder) | 0.000271442 | 1 | 0 | BeFree |
Fibroid Tumor | 0.000271442 | 1 | 0 | BeFree |
Nephrotic Syndrome | 0.000271442 | 1 | 0 | BeFree |
Prader-Willi Syndrome | 0.000271442 | 1 | 0 | BeFree |
Henoch-Schoenlein Purpura | 0.000271442 | 1 | 0 | BeFree |
Subungual exostoses | 0.000271442 | 1 | 0 | BeFree |
Uterine Fibroids | 0.000271442 | 1 | 0 | BeFree |
Cataract | 0.000271442 | 1 | 0 | BeFree |
Lung Diseases, Interstitial | 0.000271442 | 1 | 0 | BeFree |
Smooth Muscle Tumor | 0.000271442 | 1 | 0 | BeFree |
Leiomyoma of esophagus | 0.000271442 | 1 | 0 | BeFree |
Lenticonus | 0.000271442 | 1 | 0 | BeFree |
Segmental glomerulosclerosis | 0.000271442 | 1 | 0 | BeFree |
Impaired cognition | 0.000271442 | 1 | 0 | BeFree |
Anterior lenticonus | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Mental Retardation, X-Linked | 0.000271442 | 1 | 0 | BeFree |
Congenital central hypoventilation | 0.000271442 | 1 | 0 | BeFree |
Alport Syndrome, Autosomal Recessive | 0.000271442 | 1 | 0 | BeFree |
Idiopathic Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Antisynthetase syndrome | 0.000271442 | 1 | 0 | BeFree |
Mental Retardation, X-Linked 1 | 0.000271442 | 1 | 0 | BeFree |
Double cortex | 0.000271442 | 1 | 0 | BeFree |
Waardenburg Syndrome | 0.000271442 | 1 | 0 | BeFree |
Chronic idiopathic pulmonary fibrosis | 0.000271442 | 1 | 0 | BeFree |
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