更多...
收起
This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
[中文简述(自动翻译):]  这个基因编码III型胶原,即在可扩展的结缔组织如皮肤,肺,子宫,肠和血管系统中发现,经常与I型胶原关联纤维状胶原蛋白的亲α1链。在这个基因的突变与埃勒斯 - 当洛综合征IV类型有关,主动脉及动脉瘤。两个转录,从使用备用聚腺苷酸化信号的产生,已经确定了该基因。 [由R.达格利什,2008年2月提供]
COL3A1基因(以及对应的蛋白质)的细胞分布位置:
COL3A1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Ehlers-Danlos Syndrome, Type IV | 0.453224707 | 51 | 343 | BeFree_CLINVAR_GAD_MGD_ORPHANET_UNIPROT |
| Ehlers-Danlos syndrome, type 3 (disorder) | 0.36 | 1 | 0 | CLINVAR_CTD_human_UNIPROT |
| Ehlers-Danlos Syndrome | 0.134406282 | 33 | 0 | BeFree_CTD_human_LHGDN |
| Liver Cirrhosis | 0.122638474 | 6 | 0 | BeFree_CTD_human_GAD |
| Acrogeria | 0.120542884 | 2 | 0 | BeFree_ORPHANET |
| Hyperglycemia | 0.120271442 | 1 | 0 | BeFree_CTD_human |
| Liver diseases | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Aortic Valve Insufficiency | 0.12 | 1 | 0 | CTD_human |
| Fatty Liver | 0.12 | 1 | 0 | CTD_human |
| Fibrosis | 0.12 | 1 | 0 | CTD_human |
| Hypercholesterolemia | 0.12 | 1 | 0 | CTD_human |
| Hyperinsulinism | 0.12 | 1 | 0 | CTD_human |
| Hypertensive disease | 0.12 | 1 | 0 | CTD_human |
| Keloid | 0.12 | 1 | 0 | CTD_human |
| Liver Cirrhosis, Alcoholic | 0.12 | 1 | 0 | CTD_human |
| Liver Cirrhosis, Experimental | 0.12 | 1 | 0 | CTD_human |
| Schizophrenia | 0.12 | 1 | 0 | CTD_human |
| Ureteral obstruction | 0.12 | 1 | 0 | CTD_human |
| Left Ventricular Hypertrophy | 0.12 | 1 | 0 | CTD_human |
| Muscular Dystrophy, Facioscapulohumeral | 0.12 | 1 | 0 | CTD_human |
| Acrogeria, gottron type | 0.12 | 0 | 0 | ORPHANET |
| Endomyocardial Fibrosis | 0.12 | 1 | 0 | CTD_human |
| Drug-Induced Liver Injury | 0.12 | 1 | 0 | CTD_human |
| AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 | 0.12 | 1 | 0 | UNIPROT |
| Metabolic Syndrome X | 0.082367032 | 2 | 0 | GAD_RGD |
| Bladder neck obstruction | 0.08 | 1 | 0 | RGD |
| Maxillofacial Abnormalities | 0.08 | 1 | 0 | RGD |
| SCLERODERMA, FAMILIAL PROGRESSIVE | 0.08 | 0 | 0 | MGD |
| Premature Birth | 0.009468128 | 4 | 0 | GAD |
| Coronary Artery Disease | 0.007729856 | 2 | 0 | BeFree_GAD_LHGDN |
| Uterine Prolapse | 0.007101096 | 3 | 0 | GAD |
| Mitral Valve Prolapse Syndrome | 0.005634266 | 2 | 0 | BeFree_GAD_LHGDN |
| Inflammation | 0.004734064 | 2 | 0 | GAD |
| Aneurysm | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Intracranial Aneurysm | 0.003181358 | 4 | 0 | BeFree_GAD |
| Idiopathic Pulmonary Fibrosis | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Connective Tissue Diseases | 0.002909916 | 3 | 0 | BeFree_GAD |
| Fibroid Tumor | 0.00272435 | 1 | 0 | LHGDN |
| Ptosis | 0.00272435 | 1 | 0 | LHGDN |
| Sarcoidosis | 0.00272435 | 1 | 0 | LHGDN |
| Urinary Incontinence | 0.00272435 | 1 | 0 | LHGDN |
| Cardiomyopathies | 0.00272435 | 1 | 0 | LHGDN |
| Gastroesophageal reflux disease | 0.002638474 | 1 | 0 | BeFree_GAD |
| Hepatitis B, Chronic | 0.002638474 | 1 | 0 | BeFree_GAD |
| Hiatal Hernia | 0.002638474 | 1 | 0 | BeFree_GAD |
| Aortic Rupture | 0.002367032 | 1 | 0 | GAD |
| Chorioamnionitis | 0.002367032 | 1 | 0 | GAD |
| Cystocele | 0.002367032 | 1 | 0 | GAD |
| Fetal Diseases | 0.002367032 | 1 | 0 | GAD |
| Fetal Membranes, Premature Rupture | 0.002367032 | 1 | 0 | GAD |
| Intervertebral Disk Displacement | 0.002367032 | 1 | 0 | GAD |
| Kidney Failure, Chronic | 0.002367032 | 1 | 0 | GAD |
| Premature Obstetric Labor | 0.002367032 | 1 | 0 | GAD |
| Musculoskeletal Diseases | 0.002367032 | 1 | 0 | GAD |
| Pre-Eclampsia | 0.002367032 | 1 | 0 | GAD |
| Pregnancy Complications, Hematologic | 0.002367032 | 1 | 0 | GAD |
| Rectal Prolapse | 0.002367032 | 1 | 0 | GAD |
| Dermatologic disorders | 0.002367032 | 1 | 0 | GAD |
| Aortic Aneurysm, Abdominal | 0.002367032 | 1 | 0 | GAD |
| Aortic Aneurysm, Thoracic | 0.002367032 | 1 | 0 | GAD |
| Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | 0.002367032 | 1 | 0 | GAD |
| Infection | 0.002367032 | 1 | 0 | GAD |
| Aortic Aneurysm | 0.001357209 | 5 | 0 | BeFree |
| Congenital Abnormality | 0.000542884 | 2 | 0 | BeFree |
| Alzheimer's Disease | 0.000542884 | 2 | 0 | BeFree |
| Hernia, Inguinal | 0.000542884 | 2 | 0 | BeFree |
| Marfan Syndrome | 0.000542884 | 2 | 0 | BeFree |
| Cicatrix, Hypertrophic | 0.000542884 | 2 | 0 | BeFree |
| Autosomal dominant hereditary disorder | 0.000542884 | 2 | 0 | BeFree |
| Pelvic Organ Prolapse | 0.000542884 | 2 | 0 | BeFree |
| Asthma | 0.000271442 | 1 | 0 | BeFree |
| Coronary Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
| Coronary heart disease | 0.000271442 | 1 | 0 | BeFree |
| Cutis Laxa | 0.000271442 | 1 | 0 | BeFree |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
| Patent ductus arteriosus | 0.000271442 | 1 | 0 | BeFree |
| Melorheostosis | 0.000271442 | 1 | 0 | BeFree |
| Myocardial Infarction | 0.000271442 | 1 | 0 | BeFree |
| Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
| Osteogenesis Imperfecta | 0.000271442 | 1 | 0 | BeFree |
| Scoliosis, unspecified | 0.000271442 | 1 | 0 | BeFree |
| Cerebrovascular accident | 0.000271442 | 1 | 0 | BeFree |
| Diffuse Large B-Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Coronary Stenosis | 0.000271442 | 1 | 0 | BeFree |
| Dilatation of aorta | 0.000271442 | 1 | 0 | BeFree |
| Congenital anomaly of brain | 0.000271442 | 1 | 0 | BeFree |
| Ehlers-Danlos syndrome type 1 | 0.000271442 | 1 | 0 | BeFree |
| Infarction, Lacunar | 0.000271442 | 1 | 1 | BeFree |
| Stable angina | 0.000271442 | 1 | 0 | BeFree |
| Arterial aneurysm | 0.000271442 | 1 | 0 | BeFree |
| Congenital scoliosis | 0.000271442 | 1 | 0 | BeFree |
| Acquired scoliosis | 0.000271442 | 1 | 0 | BeFree |
| Aneurysm of ascending aorta | 0.000271442 | 1 | 0 | BeFree |
| Acute Coronary Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Lipoblastoma | 0.000271442 | 1 | 0 | BeFree |
| Congenital vascular anomaly | 0.000271442 | 1 | 0 | BeFree |
| Loeys-Dietz Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Nasopharyngeal carcinoma | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。