更多...
收起
This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]
[中文简述(自动翻译):]  这个基因编码IX型胶原的三个阿尔法链之一,透明软骨的主要胶原??成分。 IX型胶原,异源分子,在含有II型胶原,纤丝胶原组织通常发现。在这个基因的突变与[由RefSeq的,2010年1月提供]多个骨骺发育不良型3.相关
COL9A3基因(以及对应的蛋白质)的细胞分布位置:
COL9A3基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 | 0.36 | 1 | 0 | CLINVAR_CTD_human_UNIPROT |
| Intervertebral disc disorder | 0.122909916 | 2 | 0 | BeFree_CTD_human_GAD |
| Peripheral Neuropathy | 0.12 | 1 | 0 | CTD_human |
| EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY | 0.12 | 0 | 1 | CLINVAR |
| Intervertebral Disc Degeneration | 0.005819831 | 5 | 0 | BeFree_GAD |
| Degenerative polyarthritis | 0.005276948 | 3 | 0 | BeFree_GAD |
| Multiple Epiphyseal Dysplasia | 0.004071628 | 15 | 0 | BeFree |
| hearing impairment | 0.00272435 | 1 | 0 | LHGDN |
| Intervertebral Disk Displacement | 0.002367032 | 1 | 0 | GAD |
| Spinal Diseases | 0.002367032 | 1 | 0 | GAD |
| Medulloblastoma | 0.002171535 | 8 | 0 | BeFree |
| alpha-Thalassemia | 0.001085767 | 4 | 0 | BeFree |
| Erythema | 0.001085767 | 4 | 0 | BeFree |
| alpha^+^ Thalassemia | 0.001085767 | 4 | 0 | BeFree |
| Lumbar disc disease | 0.000814326 | 3 | 0 | BeFree |
| alpha^0^ Thalassemia | 0.000814326 | 3 | 0 | BeFree |
| Pseudoachondroplasia | 0.000814326 | 3 | 0 | BeFree |
| Diabetes | 0.000542884 | 2 | 0 | BeFree |
| Diabetes Mellitus | 0.000542884 | 2 | 0 | BeFree |
| Diabetes Mellitus, Insulin-Dependent | 0.000542884 | 2 | 0 | BeFree |
| Glioma | 0.000542884 | 2 | 0 | BeFree |
| Hypercholesterolemia, Familial | 0.000542884 | 2 | 0 | BeFree |
| Amyloidosis | 0.000271442 | 1 | 0 | BeFree |
| Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
| Primary biliary cirrhosis | 0.000271442 | 1 | 0 | BeFree |
| HIV Infections | 0.000271442 | 1 | 0 | BeFree |
| Hydrops Fetalis | 0.000271442 | 1 | 0 | BeFree |
| melanoma | 0.000271442 | 1 | 0 | BeFree |
| Metabolic Diseases | 0.000271442 | 1 | 0 | BeFree |
| nervous system disorder | 0.000271442 | 1 | 0 | BeFree |
| Familial Mediterranean Fever | 0.000271442 | 1 | 0 | BeFree |
| Thalassemia | 0.000271442 | 1 | 0 | BeFree |
| Dysplastic Nevus | 0.000271442 | 1 | 0 | BeFree |
| Diastrophic dysplasia | 0.000271442 | 1 | 0 | BeFree |
| Stickler syndrome (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Chondrodysplasia | 0.000271442 | 1 | 0 | BeFree |
| Homozygous alpha thalassemia | 0.000271442 | 1 | 0 | BeFree |
| Chronic sciatica | 0.000271442 | 1 | 0 | BeFree |
| Hyperalgesia, Thermal | 0.000271442 | 1 | 0 | BeFree |
| Sarcoma | 0.000271442 | 1 | 0 | BeFree |
| Oculoskeletal dysplasia | 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。