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This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
[中文简述(自动翻译):]  这个基因编码XI型胶原蛋白的两个α链之一,次要纤维状胶原。 XI型胶原蛋白是异源三聚,但第三α链是一个翻译后修饰II的α1型链。在这种基因突变与II型斯蒂克勒综合征和与马歇尔综合征。在这种基因的单核苷酸多态性也与易患腰椎间盘突出症有关。多个抄本变形已经确定了这个基因。 [由RefSeq的,2009年11月提供]
COL11A1基因(以及对应的蛋白质)的细胞分布位置:
COL11A1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
STICKLER SYNDROME, TYPE II (disorder) | 0.561357209 | 7 | 1 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Marshall syndrome | 0.441628651 | 6 | 1 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET |
Fibrochondrogenesis | 0.240814326 | 3 | 3 | BeFree_CLINVAR_ORPHANET |
Intervertebral Disk Displacement | 0.124734064 | 2 | 0 | CTD_human_GAD |
Glaucoma | 0.120542884 | 3 | 1 | BeFree_GWASCAT |
Angle Closure Glaucoma | 0.120271442 | 2 | 4 | BeFree_CTD_human |
Osteochondrodysplasias | 0.12 | 1 | 0 | CTD_human |
Ovarian Cysts | 0.12 | 1 | 0 | CTD_human |
Intervertebral disc disorder | 0.12 | 0 | 0 | CTD_human |
Craniofacial Abnormalities | 0.12 | 1 | 0 | CTD_human |
LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO | 0.12 | 0 | 1 | CLINVAR |
FIBROCHONDROGENESIS 1 | 0.12 | 1 | 0 | UNIPROT |
Bone Diseases | 0.08 | 1 | 0 | RGD |
Stickler syndrome (disorder) | 0.003257302 | 12 | 0 | BeFree |
Degenerative polyarthritis | 0.003181358 | 3 | 0 | BeFree_GAD |
Colorectal Cancer | 0.002909916 | 3 | 0 | BeFree_GAD |
Adenoma | 0.00272435 | 1 | 0 | LHGDN |
Adenomatous Polyposis Coli | 0.00272435 | 1 | 0 | LHGDN |
Cleft Palate | 0.002638474 | 2 | 0 | BeFree_GAD |
Cleft Lip | 0.002367032 | 1 | 0 | GAD |
Weaver syndrome | 0.001628651 | 6 | 0 | BeFree |
Primary angle-closure glaucoma | 0.001085767 | 4 | 3 | BeFree |
Ovarian Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Hearing Loss, Mixed Conductive-Sensorineural | 0.000814326 | 3 | 0 | BeFree |
Prolapsed lumbar disc | 0.000814326 | 3 | 0 | BeFree |
Carcinogenesis | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000814326 | 3 | 0 | BeFree |
Adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Squamous cell carcinoma | 0.000542884 | 2 | 0 | BeFree |
Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Pancreatitis, Chronic | 0.000542884 | 2 | 0 | BeFree |
Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
Pancreatic carcinoma | 0.000542884 | 2 | 0 | BeFree |
Chondrodysplasia | 0.000542884 | 2 | 0 | BeFree |
Skeletal dysplasia | 0.000542884 | 2 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000542884 | 2 | 0 | BeFree |
Desmoplastic | 0.000542884 | 2 | 0 | BeFree |
Hyaloideoretinal degeneration of Wagner | 0.000542884 | 2 | 0 | BeFree |
Alzheimer's Disease | 0.000271442 | 1 | 0 | BeFree |
Noninfiltrating Intraductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
Headache | 0.000271442 | 1 | 1 | BeFree |
Keloid | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Pancreatitis | 0.000271442 | 1 | 0 | BeFree |
Pierre Robin Syndrome | 0.000271442 | 1 | 0 | BeFree |
Vitreous degeneration | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of pancreas | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of colon | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
Malignant Squamous Cell Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of the head and neck | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of large intestine | 0.000271442 | 1 | 0 | BeFree |
Invasive Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cardiomyopathy, Familial Idiopathic | 0.000271442 | 1 | 0 | BeFree |
Disorder of Achilles tendon | 0.000271442 | 1 | 0 | BeFree |
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