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This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  此基因产物似乎用作RAS信号传导途径的负调节剂。在这个基因的突变已与神经纤维瘤病1型,青少年骨髓单核细胞白血病和Watson综合征。该基因mRNA的受导致过早的翻译终止RNA编辑(CGA> UGA-> Arg1306Term)。编码不同同种型的可变剪接转录物变体也已为这个基因说明。 [由RefSeq的,2008年7月提供]
NF1基因(以及对应的蛋白质)的细胞分布位置:
NF1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Neurofibromatosis 1 | 0.670236159 | 256 | 99 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
Neurofibromatosis-Noonan syndrome | 0.481900093 | 9 | 9 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Juvenile Myelomonocytic Leukemia | 0.443800186 | 17 | 2 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET |
NEUROFIBROMATOSIS, FAMILIAL SPINAL | 0.360814326 | 4 | 5 | BeFree_CLINVAR_CTD_human_UNIPROT |
Cafe-au-lait macules with pulmonary stenosis | 0.360542884 | 2 | 1 | BeFree_CLINVAR_CTD_human_ORPHANET |
neurofibroma | 0.139401857 | 47 | 0 | BeFree_CTD_human_GAD_LHGDN |
Nerve Sheath Tumors | 0.136501872 | 37 | 0 | BeFree_CTD_human_GAD_LHGDN |
Neurofibromatoses | 0.133049073 | 31 | 0 | BeFree_CTD_human_LHGDN |
Leukemia, Myelocytic, Acute | 0.128815624 | 10 | 0 | BeFree_CTD_human_GAD_LHGDN |
Pheochromocytoma | 0.127805801 | 12 | 0 | BeFree_CTD_human_GAD_LHGDN |
melanoma | 0.125710211 | 13 | 0 | BeFree_CTD_human_LHGDN |
Astrocytoma | 0.124624443 | 10 | 0 | BeFree_CTD_human_LHGDN |
Glioma | 0.123528744 | 14 | 0 | BeFree_CTD_human |
Autistic Disorder | 0.123452799 | 4 | 0 | BeFree_CTD_human_GAD |
Learning Disorders | 0.122367032 | 2 | 0 | CTD_human_GAD |
Neurilemmoma | 0.122171535 | 9 | 0 | BeFree_CTD_human |
Sarcoma | 0.121357209 | 6 | 0 | BeFree_CTD_human |
Glioblastoma | 0.121085767 | 5 | 2 | BeFree_CTD_human |
NF1 Microdeletion Syndrome | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
Adenoma | 0.12 | 1 | 0 | CTD_human |
Fibrosarcoma | 0.12 | 1 | 0 | CTD_human |
liposarcoma | 0.12 | 1 | 0 | CTD_human |
Neoplastic Syndromes, Hereditary | 0.12 | 0 | 33 | CLINVAR |
Melanocytic nevus | 0.12 | 1 | 0 | CTD_human |
Intellectual Disability | 0.12 | 1 | 0 | CTD_human |
Malignant Peripheral Nerve Sheath Tumor | 0.009500466 | 35 | 0 | BeFree |
Carcinogenesis | 0.005700279 | 21 | 0 | BeFree |
leukemia | 0.00408156 | 6 | 0 | BeFree_LHGDN |
Pilocytic Astrocytoma | 0.003995683 | 7 | 0 | BeFree_GAD |
Neurofibromatosis 2 | 0.003528744 | 13 | 0 | BeFree |
Bone Diseases, Developmental | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Plexiform Neurofibroma | 0.003257302 | 12 | 0 | BeFree |
Noonan Syndrome | 0.003181358 | 4 | 0 | BeFree_GAD |
Carcinoid Tumor | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Alopecia | 0.00272435 | 1 | 0 | LHGDN |
Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Dental Enamel Hypoplasia | 0.00272435 | 1 | 0 | LHGDN |
Heart Diseases | 0.00272435 | 1 | 0 | LHGDN |
Pseudarthrosis | 0.00272435 | 1 | 0 | LHGDN |
Cafe-au-Lait Spots | 0.00272435 | 1 | 0 | LHGDN |
Neuroblastoma | 0.002714419 | 10 | 0 | BeFree |
Adrenal Gland Neoplasms | 0.002638474 | 2 | 0 | BeFree_GAD |
Uveal melanoma | 0.002638474 | 1 | 0 | BeFree_GAD |
Meningioma | 0.002442977 | 9 | 0 | BeFree |
Central neuroblastoma | 0.002442977 | 9 | 0 | BeFree |
Growth Disorders | 0.002367032 | 1 | 0 | GAD |
Pancreatic Neoplasm | 0.002367032 | 1 | 0 | GAD |
West Syndrome | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Craniofacial Abnormalities | 0.002367032 | 1 | 0 | GAD |
MYELODYSPLASTIC SYNDROME | 0.002367032 | 1 | 0 | GAD |
Brain Neoplasms | 0.001900093 | 7 | 0 | BeFree |
Optic Nerve Glioma | 0.001628651 | 6 | 0 | BeFree |
Malignant neoplasm of breast | 0.001357209 | 5 | 0 | BeFree |
Breast Carcinoma | 0.001357209 | 5 | 0 | BeFree |
Learning Disabilities | 0.001357209 | 5 | 0 | BeFree |
Congenital Abnormality | 0.001085767 | 4 | 0 | BeFree |
Ependymoma | 0.001085767 | 4 | 0 | BeFree |
Exanthema | 0.001085767 | 4 | 0 | BeFree |
Gastrointestinal Stromal Tumors | 0.001085767 | 4 | 0 | BeFree |
Spots on skin | 0.001085767 | 4 | 0 | BeFree |
Graves Disease | 0.000814326 | 3 | 0 | BeFree |
Nervous System Neoplasms | 0.000814326 | 3 | 0 | BeFree |
Acoustic Neuroma | 0.000814326 | 3 | 0 | BeFree |
Psoriasis | 0.000814326 | 3 | 0 | BeFree |
Benign Neoplasm | 0.000814326 | 3 | 0 | BeFree |
Tumor Progression | 0.000814326 | 3 | 0 | BeFree |
Neurofibrosarcoma | 0.000814326 | 3 | 0 | BeFree |
Neurocutaneous Syndromes | 0.000814326 | 3 | 0 | BeFree |
Neurofibromatosis type 5 | 0.000814326 | 3 | 1 | BeFree |
Meningioma, benign, no ICD-O subtype | 0.000814326 | 3 | 0 | BeFree |
Presenile dementia | 0.000542884 | 2 | 0 | BeFree |
Glomus Tumor | 0.000542884 | 2 | 0 | BeFree |
Von Hippel-Lindau Syndrome | 0.000542884 | 2 | 0 | BeFree |
Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Multiple Endocrine Neoplasia Type 2a | 0.000542884 | 2 | 0 | BeFree |
Mental Retardation | 0.000542884 | 2 | 0 | BeFree |
Mesothelioma | 0.000542884 | 2 | 0 | BeFree |
Myotonic Dystrophy | 0.000542884 | 2 | 0 | BeFree |
Paraganglioma | 0.000542884 | 2 | 0 | BeFree |
Peripheral Nervous System Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Rhabdomyosarcoma | 0.000542884 | 2 | 0 | BeFree |
Soft Tissue Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Hereditary Coproporphyria | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of lung | 0.000542884 | 2 | 0 | BeFree |
Congenital Myotonic Dystrophy | 0.000542884 | 2 | 0 | BeFree |
Dementia | 0.000542884 | 2 | 0 | BeFree |
Leukemogenesis | 0.000542884 | 2 | 0 | BeFree |
Carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
Optic tract glioma | 0.000542884 | 2 | 0 | BeFree |
Learning problems | 0.000542884 | 2 | 0 | BeFree |
Non-Neoplastic Disorder | 0.000542884 | 2 | 0 | BeFree |
Dysmorphism | 0.000542884 | 2 | 0 | BeFree |
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME | 0.000542884 | 2 | 0 | BeFree |
Tumors of Adrenal Cortex | 0.000271442 | 1 | 0 | BeFree |
Congenital adrenal hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Alcoholic Intoxication, Chronic | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cardiovascular Diseases | 0.000271442 | 1 | 0 | BeFree |
Developmental Disabilities | 0.000271442 | 1 | 0 | BeFree |
Crohn Disease | 0.000271442 | 1 | 0 | BeFree |
Down Syndrome | 0.000271442 | 1 | 0 | BeFree |
Muscular Dystrophy, Duchenne | 0.000271442 | 1 | 0 | BeFree |
Dwarfism | 0.000271442 | 1 | 0 | BeFree |
Congenital Heart Defects | 0.000271442 | 1 | 0 | BeFree |
Bloch Sulzberger syndrome | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myelomonocytic, Chronic | 0.000271442 | 1 | 0 | BeFree |
Medulloblastoma | 0.000271442 | 1 | 0 | BeFree |
Monosomy | 0.000271442 | 1 | 0 | BeFree |
Myeloproliferative disease | 0.000271442 | 1 | 0 | BeFree |
Embryonal Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Multiple Endocrine Neoplasia | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pituitary Diseases | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Valve Stenosis | 0.000271442 | 1 | 0 | BeFree |
Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
Scoliosis, unspecified | 0.000271442 | 1 | 0 | BeFree |
Vascular Diseases | 0.000271442 | 1 | 0 | BeFree |
Juvenile Xanthogranuloma | 0.000271442 | 1 | 0 | BeFree |
Li-Fraumeni Syndrome | 0.000271442 | 1 | 0 | BeFree |
Polycystic Kidney, Autosomal Dominant | 0.000271442 | 1 | 0 | BeFree |
Acute leukemia | 0.000271442 | 1 | 0 | BeFree |
Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Cutaneous Melanoma | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 0 | BeFree |
LEOPARD Syndrome | 0.000271442 | 1 | 0 | BeFree |
Liposarcoma, Pleomorphic | 0.000271442 | 1 | 0 | BeFree |
Neuroectodermal Tumors | 0.000271442 | 1 | 0 | BeFree |
Fibroadenoma | 0.000271442 | 1 | 0 | BeFree |
Neuroectodermal Tumor, Primitive | 0.000271442 | 1 | 0 | BeFree |
Adrenal Cortical Adenoma | 0.000271442 | 1 | 0 | BeFree |
childhood brain tumor | 0.000271442 | 1 | 0 | BeFree |
Adult Acute Myeloblastic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Macrocephaly | 0.000271442 | 1 | 0 | BeFree |
Fibrous Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Turcot syndrome (disorder) | 0.000271442 | 1 | 0 | BeFree |
Fibrous Hamartoma of Infancy | 0.000271442 | 1 | 0 | BeFree |
Transitional cell carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
Superficial spreading malignant melanoma of skin | 0.000271442 | 1 | 0 | BeFree |
Fibrolipoma | 0.000271442 | 1 | 0 | BeFree |
Impaired cognition | 0.000271442 | 1 | 0 | BeFree |
Adrenal hypertrophy or hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Neuromuscular hamartoma | 0.000271442 | 1 | 0 | BeFree |
Developmental delay (disorder) | 0.000271442 | 1 | 0 | BeFree |
Dysmorphic features | 0.000271442 | 1 | 0 | BeFree |
Ewings sarcoma | 0.000271442 | 1 | 0 | BeFree |
Malignant Glioma | 0.000271442 | 1 | 0 | BeFree |
Congenital scoliosis | 0.000271442 | 1 | 0 | BeFree |
Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Acquired scoliosis | 0.000271442 | 1 | 0 | BeFree |
Adult Acute Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Peripheral Nerve Sheath Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Thrombocytosis | 0.000271442 | 1 | 0 | BeFree |
Vascular inflammations | 0.000271442 | 1 | 0 | BeFree |
Astrocytoma, low grade | 0.000271442 | 1 | 0 | BeFree |
Desmoplastic melanoma | 0.000271442 | 1 | 0 | BeFree |
Sporadic Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant Conversion | 0.000271442 | 1 | 0 | BeFree |
Adrenal hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Desmoplastic Neurotropic Melanoma | 0.000271442 | 1 | 0 | BeFree |
Osteofibrous Dysplasia | 0.000271442 | 1 | 0 | BeFree |
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Stenosis | 0.000271442 | 1 | 0 | BeFree |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Congenital vascular anomaly | 0.000271442 | 1 | 0 | BeFree |
Low grade glioma | 0.000271442 | 1 | 0 | BeFree |
Incontinentia pigmenti, familial male-lethal type | 0.000271442 | 1 | 0 | BeFree |
Mesenchymal Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
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