更多...
收起
This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. 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):]  该基??因编码类型的亲ALPHA1链I型胶原蛋白的三螺旋结构包括两个ALPHA1链和一个α2链。 I型在大多数结缔组织发现原纤维形成的胶原蛋白,并在骨,角膜,真皮和肌腱丰富。在这个基因的突变与成骨不全症类型I-IV,埃勒斯 - 当洛综合征型VIIA,埃勒斯 - 当洛综合征古典型,卡菲病和特发性骨质疏松症。染色体17和22,其中,该基因与该基因对血小板衍生的生长因子β位于之间的相互易位,与称为隆突性皮肤皮肤肿瘤的特定类型,从生长因子的未经调节的表达产生的相关联。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]
COL1A1基因(以及对应的蛋白质)的细胞分布位置:
COL1A1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Osteogenesis imperfecta type III (disorder) | 0.562442977 | 22 | 9 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Cortical Congenital Hyperostosis | 0.484353001 | 6 | 1 | BeFree_CLINVAR_CTD_human_LHGDN_ORPHANET_UNIPROT |
Osteogenesis imperfecta type IV (disorder) | 0.481900093 | 17 | 3 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Ehlers-Danlos syndrome type 1 | 0.480271442 | 2 | 1 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Lobstein's Disease | 0.327871814 | 40 | 9 | BeFree_CLINVAR_MGD_UNIPROT |
Osteogenesis imperfecta, dominant perinatal lethal | 0.322171535 | 36 | 1 | BeFree_CTD_human_MGD_UNIPROT |
Osteogenesis Imperfecta | 0.315633557 | 130 | 29 | BeFree_CLINVAR_CTD_human_GAD_LHGDN |
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE | 0.24 | 0 | 0 | CTD_human_ORPHANET |
Osteoporosis | 0.190496532 | 38 | 0 | BeFree_CTD_human_GAD_LHGDN |
Dermatofibrosarcoma Protuberans | 0.130857675 | 40 | 0 | BeFree_ORPHANET |
Malignant neoplasm of breast | 0.122909916 | 3 | 17 | BeFree_GAD_GWASCAT |
Liver Cirrhosis | 0.122638474 | 4 | 0 | BeFree_CTD_human_GAD |
Oral Submucous Fibrosis | 0.122367032 | 2 | 0 | CTD_human_GAD |
Spontaneous abortion | 0.12 | 1 | 0 | CTD_human |
Aneurysm, Dissecting | 0.12 | 1 | 0 | CTD_human |
Aortic Valve Insufficiency | 0.12 | 1 | 0 | CTD_human |
Calcinosis | 0.12 | 1 | 0 | CTD_human |
Fibrosis | 0.12 | 1 | 0 | CTD_human |
Heart valve disease | 0.12 | 1 | 0 | CTD_human |
Hypertensive disease | 0.12 | 1 | 0 | CTD_human |
Keloid | 0.12 | 1 | 0 | CTD_human |
Nephrotic Syndrome | 0.12 | 1 | 0 | CTD_human |
Left Ventricular Hypertrophy | 0.12 | 1 | 0 | CTD_human |
Osteogenesis imperfecta, recessive perinatal lethal | 0.12 | 0 | 26 | CLINVAR |
Nephrogenic Fibrosing Dermopathy | 0.12 | 1 | 0 | CTD_human |
OI/EDS Combined Syndrome | 0.12 | 0 | 1 | CLINVAR |
Non-alcoholic Fatty Liver Disease | 0.080542884 | 3 | 0 | BeFree_RGD |
Arteriovenous fistula | 0.08 | 1 | 0 | RGD |
Bladder neck obstruction | 0.08 | 1 | 0 | RGD |
Cholestasis | 0.08 | 2 | 0 | RGD |
Diabetic Nephropathy | 0.08 | 1 | 0 | RGD |
Biliary cirrhosis | 0.08 | 1 | 0 | RGD |
Liver Cirrhosis, Experimental | 0.08 | 4 | 0 | RGD |
Liver neoplasms | 0.08 | 1 | 0 | RGD |
Pulmonary Fibrosis | 0.08 | 1 | 0 | RGD |
Ureteral obstruction | 0.08 | 1 | 0 | RGD |
Pancreatitis, Chronic | 0.08 | 1 | 0 | RGD |
hypertensive nephropathy | 0.08 | 1 | 0 | RGD |
Osteoporosis, Postmenopausal | 0.024484645 | 13 | 0 | BeFree_GAD |
Otosclerosis | 0.013440067 | 12 | 0 | BeFree_GAD_LHGDN |
Ehlers-Danlos Syndrome | 0.011158911 | 14 | 0 | BeFree_LHGDN |
Myopia | 0.010011012 | 4 | 0 | BeFree_GAD |
beta Thalassemia | 0.009825446 | 3 | 0 | GAD_LHGDN |
Uterine Prolapse | 0.009468128 | 4 | 0 | GAD |
Premature Birth | 0.009468128 | 4 | 0 | GAD |
Degenerative polyarthritis | 0.009087065 | 9 | 0 | BeFree_GAD_LHGDN |
Dermatofibrosarcoma | 0.008444493 | 4 | 0 | BeFree_LHGDN |
Systemic Scleroderma | 0.008434561 | 12 | 0 | BeFree_LHGDN |
Multiple Myeloma | 0.008173051 | 3 | 0 | LHGDN |
Pathological fracture | 0.007101096 | 3 | 0 | GAD |
Mammary Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
Bone Diseases | 0.005091382 | 2 | 0 | GAD_LHGDN |
Congenital clubfoot | 0.005091382 | 1 | 0 | GAD_LHGDN |
Urinary Incontinence | 0.005091382 | 1 | 0 | GAD_LHGDN |
Metabolic Bone Disorder | 0.004734064 | 2 | 0 | GAD |
Inflammation | 0.004734064 | 2 | 0 | GAD |
Periodontitis | 0.004734064 | 2 | 0 | GAD |
Pre-Eclampsia | 0.004734064 | 2 | 0 | GAD |
Osteosarcoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Sarcoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Hip Dislocation, Congenital | 0.002909916 | 3 | 0 | BeFree_GAD |
Arthritis, Psoriatic | 0.00272435 | 1 | 0 | LHGDN |
Asthma | 0.00272435 | 1 | 0 | LHGDN |
Dental Calculus | 0.00272435 | 1 | 0 | LHGDN |
Arthropathy | 0.00272435 | 1 | 0 | LHGDN |
Fibroid Tumor | 0.00272435 | 1 | 0 | LHGDN |
Chronic Obstructive Airway Disease | 0.00272435 | 1 | 0 | LHGDN |
Sarcoidosis | 0.00272435 | 1 | 0 | LHGDN |
Syringomyelia | 0.00272435 | 1 | 0 | LHGDN |
Epidermolysis Bullosa Dystrophica | 0.00272435 | 1 | 0 | LHGDN |
Idiopathic Pulmonary Fibrosis | 0.00272435 | 1 | 0 | LHGDN |
Connective Tissue Diseases | 0.002638474 | 2 | 0 | BeFree_GAD |
Myocardial Infarction | 0.002638474 | 1 | 0 | BeFree_GAD |
Lumbar disc disease | 0.002638474 | 1 | 0 | BeFree_GAD |
Achondroplasia | 0.002367032 | 1 | 0 | GAD |
Alcoholic Intoxication, Chronic | 0.002367032 | 1 | 0 | GAD |
Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
Uterine Cervical Incompetence | 0.002367032 | 1 | 0 | GAD |
Chorioamnionitis | 0.002367032 | 1 | 0 | GAD |
Colles' Fracture | 0.002367032 | 1 | 0 | GAD |
Deafness | 0.002367032 | 1 | 0 | GAD |
Pituitary dwarfism | 0.002367032 | 1 | 0 | GAD |
Fetal Diseases | 0.002367032 | 1 | 0 | GAD |
Fetal Membranes, Premature Rupture | 0.002367032 | 1 | 0 | GAD |
Hearing Loss, Partial | 0.002367032 | 1 | 0 | GAD |
Male infertility | 0.002367032 | 1 | 0 | GAD |
Insulin Resistance | 0.002367032 | 1 | 0 | GAD |
Intervertebral Disk Displacement | 0.002367032 | 1 | 0 | GAD |
Premature Obstetric Labor | 0.002367032 | 1 | 0 | GAD |
leukemia | 0.002367032 | 1 | 0 | GAD |
Musculoskeletal Diseases | 0.002367032 | 1 | 0 | GAD |
Osteoarthritis of hip | 0.002367032 | 1 | 0 | GAD |
Osteopenia | 0.002367032 | 1 | 0 | GAD |
Pregnancy Complications, Hematologic | 0.002367032 | 1 | 0 | GAD |
Dermatologic disorders | 0.002367032 | 1 | 0 | GAD |
Thalassemia | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Myopia, Degenerative | 0.002367032 | 1 | 0 | GAD |
Malignant Bone Neoplasm | 0.002367032 | 1 | 0 | GAD |
Hepatitis B, Chronic | 0.002367032 | 1 | 0 | GAD |
hearing impairment | 0.002367032 | 1 | 0 | GAD |
Coronary Artery Disease | 0.002367032 | 1 | 0 | GAD |
Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | 0.002367032 | 1 | 0 | GAD |
Aortic Stiffness | 0.002367032 | 1 | 0 | GAD |
Infection | 0.002367032 | 1 | 0 | GAD |
Hearing Loss | 0.002367032 | 1 | 0 | GAD |
Increased susceptibility to fractures | 0.001900093 | 7 | 0 | BeFree |
Giant Cell Fibroblastoma | 0.001357209 | 5 | 0 | BeFree |
Scleroderma | 0.001085767 | 4 | 0 | BeFree |
Severe myopia | 0.001085767 | 4 | 0 | BeFree |
Pain | 0.000814326 | 3 | 0 | BeFree |
Hearing Loss, Mixed Conductive-Sensorineural | 0.000814326 | 3 | 0 | BeFree |
Glaucoma, Primary Open Angle | 0.000814326 | 3 | 0 | BeFree |
Eosinophilia-Myalgia Syndrome | 0.000542884 | 2 | 0 | BeFree |
Bruck syndrome | 0.000542884 | 2 | 0 | BeFree |
Breast Carcinoma | 0.000542884 | 2 | 17 | BeFree |
Brittle Bone Disorder | 0.000542884 | 2 | 0 | BeFree |
Cutaneous Fibrous Histiocytoma | 0.000271442 | 1 | 0 | BeFree |
Collagen Diseases | 0.000271442 | 1 | 0 | BeFree |
Crohn Disease | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
Fibrosarcoma | 0.000271442 | 1 | 0 | BeFree |
Hepatitis B | 0.000271442 | 1 | 0 | BeFree |
Leishmaniasis, Cutaneous | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Lymphocytic, Acute, L1 | 0.000271442 | 1 | 0 | BeFree |
Malocclusion | 0.000271442 | 1 | 0 | BeFree |
Marfan Syndrome | 0.000271442 | 1 | 0 | BeFree |
Nodule | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Oral Manifestations | 0.000271442 | 1 | 0 | BeFree |
Ptosis | 0.000271442 | 1 | 0 | BeFree |
Scoliosis, unspecified | 0.000271442 | 1 | 0 | BeFree |
Skin Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Urinary Stress Incontinence | 0.000271442 | 1 | 1 | BeFree |
Foot Ulcer | 0.000271442 | 1 | 0 | BeFree |
Idiopathic osteoporosis | 0.000271442 | 1 | 0 | BeFree |
Uveal melanoma | 0.000271442 | 1 | 0 | BeFree |
Fibrosis, Liver | 0.000271442 | 1 | 0 | BeFree |
Sclerosteosis | 0.000271442 | 1 | 0 | BeFree |
Ehlers-Danlos Syndrome, Type IV | 0.000271442 | 1 | 0 | BeFree |
Lipodermatosclerosis | 0.000271442 | 1 | 0 | BeFree |
Idiopathic osteoarthritis | 0.000271442 | 1 | 0 | BeFree |
Hereditary Connective Tissue Disorder | 0.000271442 | 1 | 0 | BeFree |
Blue sclera | 0.000271442 | 1 | 0 | BeFree |
Congenital scoliosis | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma of bone | 0.000271442 | 1 | 0 | BeFree |
Acquired scoliosis | 0.000271442 | 1 | 0 | BeFree |
Hyperuricemia | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of kidney | 0.000271442 | 1 | 0 | BeFree |
Diffuse Scleroderma | 0.000271442 | 1 | 0 | BeFree |
Epithelioma | 0.000271442 | 1 | 0 | BeFree |
Renal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Tendinopathy | 0.000271442 | 1 | 0 | BeFree |
Conventional Dermatofibrosarcoma Protuberans | 0.000271442 | 1 | 0 | BeFree |
CAMPOMELIC DYSPLASIA | 0.000271442 | 1 | 0 | BeFree |
Osteogenesis Imperfecta, Type V | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
Nonalcoholic Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
Metastatic Dermatofibrosarcoma Protuberans | 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。