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This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的原纤维蛋白家族的一个成员。所编码的蛋白质是一个大的,细胞外基质糖蛋白充当10-12纳米钙结合微纤维的结构组分。这些微纤维提供了受力遍及全身的弹性和非弹性结缔组织结构支撑。在这个基因的突变与马凡氏综合征,孤立的晶状体异位,常染色体显性遗传威尔 - Marchesani综合征,MASS综合症和Shprintzen - 戈德堡颅缝早闭综合征。 [由RefSeq的,2008年7月提供]
FBN1基因(以及对应的蛋白质)的细胞分布位置:
FBN1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Marfan Syndrome | 0.722695299 | 310 | 243 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
Stiff Skin Syndrome | 0.360271442 | 1 | 4 | BeFree_CLINVAR_CTD_human_UNIPROT |
Ectopia Lentis | 0.264231728 | 37 | 1 | BeFree_CTD_human_GAD_LHGDN_ORPHANET |
Weill-Marchesani syndrome | 0.242714419 | 10 | 0 | BeFree_CTD_human_ORPHANET |
Acromicric Dysplasia | 0.241085767 | 4 | 0 | BeFree_ORPHANET_UNIPROT |
Shprintzen-Goldberg syndrome | 0.240814326 | 3 | 0 | BeFree_CTD_human_ORPHANET |
OVERLAP CONNECTIVE TISSUE DISEASE | 0.240814326 | 3 | 0 | BeFree_CLINVAR_CTD_human |
GELEOPHYSIC DYSPLASIA 2 | 0.24 | 1 | 4 | CLINVAR_UNIPROT |
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT | 0.24 | 3 | 2 | CTD_human_UNIPROT |
Weill-Marchesani Syndrome, Autosomal Dominant | 0.200271442 | 1 | 0 | BeFree_CLINVAR_MGD |
Aortic Aneurysm, Thoracic | 0.127177041 | 11 | 1 | BeFree_CTD_human_GAD |
Aortic Rupture | 0.122367032 | 2 | 0 | CTD_human_GAD |
Ectopia lentis isolated | 0.122171535 | 8 | 4 | BeFree_CLINVAR |
Geleophysic dysplasia | 0.121357209 | 5 | 0 | BeFree_ORPHANET |
Arachnodactyly | 0.121085767 | 5 | 0 | BeFree_CTD_human |
Congenital aneurysm of ascending aorta | 0.120542884 | 2 | 2 | BeFree_CLINVAR |
Hyperglycemia | 0.120271442 | 1 | 0 | BeFree_CTD_human |
Hyperinsulinism | 0.120271442 | 1 | 0 | BeFree_CTD_human |
Endometriosis | 0.12 | 1 | 0 | CTD_human |
GEMSS syndrome | 0.12 | 0 | 0 | ORPHANET |
Hypertensive disease | 0.081085767 | 5 | 0 | BeFree_RGD |
Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
Glomerulonephritis | 0.08 | 2 | 0 | RGD |
Emphysema, Hereditary Pulmonary | 0.08 | 0 | 0 | MGD |
SCLERODERMA, FAMILIAL PROGRESSIVE | 0.08 | 0 | 0 | MGD |
Systemic Scleroderma | 0.020627039 | 13 | 0 | BeFree_GAD_LHGDN |
Connective Tissue Diseases | 0.013224707 | 40 | 0 | BeFree_GAD |
Mitral Valve Prolapse Syndrome | 0.009087065 | 6 | 0 | BeFree_GAD_LHGDN |
Scleroderma | 0.006634157 | 7 | 0 | BeFree_GAD |
Homocystinuria | 0.005991584 | 3 | 0 | BeFree_LHGDN |
Tetralogy of Fallot | 0.005362824 | 1 | 0 | BeFree_GAD_LHGDN |
Aortic Stiffness | 0.004734064 | 2 | 0 | GAD |
Aortic Aneurysm | 0.004267125 | 8 | 6 | BeFree_GAD |
Coronary Artery Disease | 0.004267125 | 7 | 3 | BeFree_GAD |
Cardiovascular Diseases | 0.00408156 | 5 | 0 | BeFree_LHGDN |
Glaucoma | 0.003810118 | 4 | 0 | BeFree_LHGDN |
Lens Subluxation | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Malignant neoplasm of breast | 0.002638474 | 2 | 1 | BeFree_GAD |
Glaucoma, Open-Angle | 0.002638474 | 2 | 0 | BeFree_GAD |
Hip Dislocation, Congenital | 0.002638474 | 1 | 1 | BeFree_GAD |
Exfoliation Syndrome | 0.002638474 | 2 | 0 | BeFree_GAD |
Congenital contractural arachnodactyly | 0.002442977 | 9 | 0 | BeFree |
Hereditary Connective Tissue Disorder | 0.002442977 | 9 | 0 | BeFree |
Aortic Valve Stenosis | 0.002367032 | 1 | 0 | GAD |
Bipolar Disorder | 0.002367032 | 1 | 1 | GAD |
Body Weight Changes | 0.002367032 | 1 | 1 | GAD |
Pathological Dilatation | 0.002367032 | 1 | 0 | GAD |
Kidney Failure, Chronic | 0.002367032 | 1 | 0 | GAD |
Parkinson Disease | 0.002367032 | 1 | 1 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Dissection of aorta | 0.002171535 | 8 | 5 | BeFree |
Aneurysm | 0.001628651 | 6 | 0 | BeFree |
Loeys-Dietz Syndrome | 0.001628651 | 6 | 0 | BeFree |
Aortic Diseases | 0.001357209 | 5 | 0 | BeFree |
Dilatation of aorta | 0.001357209 | 5 | 0 | BeFree |
Dissecting aneurysm of the thoracic aorta | 0.001357209 | 5 | 2 | BeFree |
Aortic aneurysm and dissection | 0.001357209 | 5 | 1 | BeFree |
Coronary heart disease | 0.001085767 | 4 | 1 | BeFree |
Lipodystrophy | 0.001085767 | 4 | 0 | BeFree |
Familial generalized lipodystrophy | 0.001085767 | 4 | 0 | BeFree |
Aortic aneurysm without mention of rupture NOS | 0.001085767 | 4 | 6 | BeFree |
Coronary Arteriosclerosis | 0.000814326 | 3 | 0 | BeFree |
Osteosarcoma | 0.000814326 | 3 | 0 | BeFree |
Periodontitis | 0.000814326 | 3 | 0 | BeFree |
Pulmonary Emphysema | 0.000814326 | 3 | 0 | BeFree |
Aortic root dilatation | 0.000814326 | 3 | 1 | BeFree |
Cardiovascular Abnormalities | 0.000814326 | 3 | 0 | BeFree |
Adolescent idiopathic scoliosis | 0.000814326 | 3 | 0 | BeFree |
Osteosarcoma of bone | 0.000814326 | 3 | 0 | BeFree |
Congenital Abnormality | 0.000542884 | 2 | 0 | BeFree |
Supravalvular aortic stenosis | 0.000542884 | 2 | 0 | BeFree |
Cardiomyopathy, Dilated | 0.000542884 | 2 | 0 | BeFree |
Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000542884 | 2 | 1 | BeFree |
Dwarfism | 0.000542884 | 2 | 1 | BeFree |
Myopia | 0.000542884 | 2 | 0 | BeFree |
Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
Ptosis | 0.000542884 | 2 | 0 | BeFree |
Schizophrenia | 0.000542884 | 2 | 0 | BeFree |
Urinary Stress Incontinence | 0.000542884 | 2 | 0 | BeFree |
Polycystic Kidney, Autosomal Dominant | 0.000542884 | 2 | 0 | BeFree |
Essential Hypertension | 0.000542884 | 2 | 0 | BeFree |
Linear atrophy | 0.000542884 | 2 | 0 | BeFree |
Brachydactyly | 0.000542884 | 2 | 0 | BeFree |
Thick skin | 0.000542884 | 2 | 0 | BeFree |
Autosomal dominant hereditary disorder | 0.000542884 | 2 | 0 | BeFree |
Marfanoid hypermobility syndrome | 0.000542884 | 2 | 0 | BeFree |
Congenital kyphoscoliosis | 0.000542884 | 2 | 0 | BeFree |
Wiedemann-Rautenstrauch syndrome | 0.000542884 | 2 | 0 | BeFree |
Kyphoscoliosis deformity of spine | 0.000542884 | 2 | 0 | BeFree |
Aqueous Humor Disorders | 0.000542884 | 2 | 0 | BeFree |
Acquired Kyphoscoliosis | 0.000542884 | 2 | 0 | BeFree |
Aneurysm of ascending aorta | 0.000542884 | 2 | 3 | BeFree |
Colorectal Cancer | 0.000542884 | 2 | 0 | BeFree |
Familial ectopia lentis | 0.000542884 | 2 | 0 | BeFree |
Ataxias, Hereditary | 0.000271442 | 1 | 0 | BeFree |
Colitis | 0.000271442 | 1 | 0 | BeFree |
Craniosynostosis | 0.000271442 | 1 | 0 | BeFree |
Cystic Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Delirium | 0.000271442 | 1 | 0 | BeFree |
Mental Depression | 0.000271442 | 1 | 0 | BeFree |
Depressive disorder | 0.000271442 | 1 | 0 | BeFree |
Dermatomyositis | 0.000271442 | 1 | 0 | BeFree |
Ehlers-Danlos Syndrome | 0.000271442 | 1 | 0 | BeFree |
Endocarditis | 0.000271442 | 1 | 0 | BeFree |
Exotropia | 0.000271442 | 1 | 0 | BeFree |
Heart failure | 0.000271442 | 1 | 0 | BeFree |
Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
Kyphosis deformity of spine | 0.000271442 | 1 | 0 | BeFree |
Fibroid Tumor | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Diseases of mitral valve | 0.000271442 | 1 | 0 | BeFree |
Mitral Valve Insufficiency | 0.000271442 | 1 | 0 | BeFree |
Myopathy | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Paresis | 0.000271442 | 1 | 0 | BeFree |
Psychotic Disorders | 0.000271442 | 1 | 0 | BeFree |
Pterygium | 0.000271442 | 1 | 0 | BeFree |
Scoliosis, unspecified | 0.000271442 | 1 | 0 | BeFree |
Ankylosing spondylitis | 0.000271442 | 1 | 0 | BeFree |
Uterine Fibroids | 0.000271442 | 1 | 0 | BeFree |
Vascular Diseases | 0.000271442 | 1 | 0 | BeFree |
Wiskott-Aldrich Syndrome | 0.000271442 | 1 | 0 | BeFree |
Joint laxity | 0.000271442 | 1 | 0 | BeFree |
Muscle Weakness | 0.000271442 | 1 | 0 | BeFree |
Lung Diseases, Interstitial | 0.000271442 | 1 | 0 | BeFree |
Follicular thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Fibrillation | 0.000271442 | 1 | 0 | BeFree |
Congenital diaphragmatic hernia | 0.000271442 | 1 | 0 | BeFree |
Schinzel-Giedion syndrome | 0.000271442 | 1 | 0 | BeFree |
Congenital kyphosis | 0.000271442 | 1 | 0 | BeFree |
Paraesophageal hernia | 0.000271442 | 1 | 0 | BeFree |
Senile cardiac amyloidosis | 0.000271442 | 1 | 0 | BeFree |
Familial Hemiplegic Migraine | 0.000271442 | 1 | 0 | BeFree |
Skeletal dysplasia | 0.000271442 | 1 | 0 | BeFree |
Thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Congenital scoliosis | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Progressive Neoplastic Disease | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Lesion of stomach | 0.000271442 | 1 | 0 | BeFree |
Acquired scoliosis | 0.000271442 | 1 | 0 | BeFree |
Chronic lung disease | 0.000271442 | 1 | 0 | BeFree |
CADASIL Syndrome | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
Respiratory Failure | 0.000271442 | 1 | 0 | BeFree |
Multi vessel coronary artery disease | 0.000271442 | 1 | 0 | BeFree |
Cardiovascular morbidity | 0.000271442 | 1 | 0 | BeFree |
Idiopathic Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Loeys-Dietz Aortic Aneurysm Syndrome | 0.000271442 | 1 | 0 | BeFree |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | 0.000271442 | 1 | 0 | BeFree |
Progressive cGVHD | 0.000271442 | 1 | 0 | BeFree |
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