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This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的Drosophilia果蝇I型膜蛋白缺口的第三个发现人类同源。在Drosophilia,其细胞结合的配体(三角形,锯齿)缺口的互动建立,发挥在神经发育关键作用的细胞间的信号传导通路。缺口配体的同系物也已在人确定,但仍然是这些配位体与人类槽口同源物之间的精确相互作用来确定。在NOTCH3突变已被确定为脑常染色体显性遗传脑动脉与皮质下梗死和白质脑病(CADASIL)的根本原因。 [由RefSeq的,2008年7月提供]
NOTCH3基因(以及对应的蛋白质)的细胞分布位置:
NOTCH3基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
CADASIL Syndrome | 0.537478391 | 192 | 8 | BeFree_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
Infantile myofibromatosis | 0.240271442 | 1 | 1 | BeFree_CLINVAR_ORPHANET |
LATERAL MENINGOCELE SYNDROME | 0.240271442 | 1 | 1 | BeFree_CLINVAR_ORPHANET |
MYOFIBROMATOSIS, INFANTILE, 2 | 0.24 | 1 | 1 | CLINVAR_UNIPROT |
Mammary Neoplasms | 0.128715934 | 5 | 0 | BeFree_CTD_human_LHGDN |
Lung Neoplasms | 0.122995792 | 2 | 0 | BeFree_CTD_human_LHGDN |
Non-Small Cell Lung Carcinoma | 0.121628651 | 7 | 0 | BeFree_CTD_human |
Carcinoma, Pancreatic Ductal | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Glioblastoma | 0.12 | 1 | 0 | CTD_human |
Squamous cell carcinoma of esophagus | 0.12 | 1 | 0 | CTD_human |
Lateral meningocele | 0.12 | 0 | 0 | ORPHANET |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.08272435 | 1 | 0 | LHGDN_MGD |
Infarction | 0.08 | 1 | 0 | RGD |
Cerebrovascular accident | 0.013224707 | 40 | 3 | BeFree_GAD |
Migraine Disorders | 0.007719925 | 12 | 0 | BeFree_GAD |
ovarian neoplasm | 0.005720142 | 3 | 0 | BeFree_LHGDN |
Dementia, Vascular | 0.005428837 | 20 | 0 | BeFree |
Malignant neoplasm of ovary | 0.005081451 | 11 | 0 | BeFree_GAD |
Schizophrenia | 0.005005506 | 3 | 0 | BeFree_GAD |
Presenile dementia | 0.004885954 | 18 | 1 | BeFree |
Dementia | 0.004885954 | 18 | 1 | BeFree |
Arteriopathic disease | 0.004885954 | 18 | 0 | BeFree |
Leukoencephalopathies | 0.004810009 | 10 | 0 | BeFree_GAD |
Liver carcinoma | 0.004624443 | 8 | 0 | BeFree_LHGDN |
Vascular Diseases | 0.003528744 | 13 | 0 | BeFree |
IGA Glomerulonephritis | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Leukemia, T-Cell | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Mitochondrial Diseases | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Ovarian Carcinoma | 0.002985861 | 11 | 0 | BeFree |
Hypertensive disease | 0.002909916 | 3 | 0 | BeFree_GAD |
Optic Neuropathy, Ischemic | 0.00272435 | 1 | 0 | LHGDN |
Cardiovascular Diseases | 0.002638474 | 2 | 0 | BeFree_GAD |
Cerebral Infarction | 0.002638474 | 2 | 0 | BeFree_GAD |
Disease Progression | 0.002367032 | 1 | 0 | GAD |
Brain Infarction | 0.002367032 | 1 | 0 | GAD |
Cerebral Hemorrhage | 0.002367032 | 1 | 0 | GAD |
Cerebral Small Vessel Diseases | 0.002171535 | 8 | 0 | BeFree |
Ischemic stroke | 0.001900093 | 7 | 1 | BeFree |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.001900093 | 7 | 0 | BeFree |
Malignant neoplasm of breast | 0.001357209 | 5 | 0 | BeFree |
Neoplasm Metastasis | 0.001357209 | 5 | 0 | BeFree |
Migraine with Aura | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of lung | 0.001357209 | 5 | 0 | BeFree |
Leukemogenesis | 0.001357209 | 5 | 0 | BeFree |
Breast Carcinoma | 0.001357209 | 5 | 0 | BeFree |
Ischemic Cerebrovascular Accident | 0.001357209 | 5 | 1 | BeFree |
Myopathy | 0.001085767 | 4 | 1 | BeFree |
Infarction, Lacunar | 0.001085767 | 4 | 0 | BeFree |
Epithelial ovarian cancer | 0.001085767 | 4 | 0 | BeFree |
Carcinoma of lung | 0.001085767 | 4 | 0 | BeFree |
Cerebral Amyloid Angiopathy | 0.000814326 | 3 | 0 | BeFree |
Idiopathic pulmonary hypertension | 0.000814326 | 3 | 0 | BeFree |
Impaired cognition | 0.000814326 | 3 | 0 | BeFree |
Non-Neoplastic Disorder | 0.000814326 | 3 | 0 | BeFree |
Pulmonary arterial hypertension | 0.000814326 | 3 | 0 | BeFree |
Stroke, Lacunar | 0.000814326 | 3 | 0 | BeFree |
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia | 0.000814326 | 3 | 0 | BeFree |
Adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
Squamous cell carcinoma | 0.000542884 | 2 | 0 | BeFree |
Transient Ischemic Attack | 0.000542884 | 2 | 0 | BeFree |
Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Multi-infarct dementia | 0.000542884 | 2 | 0 | BeFree |
Glioma | 0.000542884 | 2 | 0 | BeFree |
Pulmonary Hypertension | 0.000542884 | 2 | 0 | BeFree |
Kidney Diseases | 0.000542884 | 2 | 0 | BeFree |
leukemia | 0.000542884 | 2 | 0 | BeFree |
melanoma | 0.000542884 | 2 | 0 | BeFree |
Neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Pituitary Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Retinal Diseases | 0.000542884 | 2 | 0 | BeFree |
Rhabdomyosarcoma | 0.000542884 | 2 | 0 | BeFree |
Lesion of brain | 0.000542884 | 2 | 0 | BeFree |
Psychiatric symptom | 0.000542884 | 2 | 0 | BeFree |
Muscle degeneration | 0.000542884 | 2 | 0 | BeFree |
Binswanger Disease | 0.000542884 | 2 | 0 | BeFree |
Solid tumour | 0.000542884 | 2 | 0 | BeFree |
Familial Hemiplegic Migraine | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
Neurodegenerative Disorders | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000542884 | 2 | 0 | BeFree |
Central neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Vascular lesions | 0.000542884 | 2 | 0 | BeFree |
Xenograft Model | 0.000542884 | 2 | 0 | BeFree |
Colorectal Cancer | 0.000542884 | 2 | 0 | BeFree |
AURAL ATRESIA, CONGENITAL | 0.000542884 | 2 | 0 | BeFree |
Amyotrophic Lateral Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Aortic Aneurysm | 0.000271442 | 1 | 0 | BeFree |
Aphasia | 0.000271442 | 1 | 1 | BeFree |
Barrett Esophagus | 0.000271442 | 1 | 0 | BeFree |
Brain Diseases | 0.000271442 | 1 | 0 | BeFree |
Cachexia | 0.000271442 | 1 | 0 | BeFree |
Noninfiltrating Intraductal Carcinoma | 0.000271442 | 1 | 6 | BeFree |
Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of cervix | 0.000271442 | 1 | 0 | BeFree |
Cholestasis | 0.000271442 | 1 | 0 | BeFree |
Colorectal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Coronary Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus, Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
Diabetic Nephropathy | 0.000271442 | 1 | 0 | BeFree |
Foramen Ovale, Patent | 0.000271442 | 1 | 0 | BeFree |
Ganglioneuroma | 0.000271442 | 1 | 0 | BeFree |
Heart Diseases | 0.000271442 | 1 | 0 | BeFree |
Heart failure | 0.000271442 | 1 | 0 | BeFree |
Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
Hemiparesis | 0.000271442 | 1 | 1 | BeFree |
Hepatitis, Chronic | 0.000271442 | 1 | 0 | BeFree |
Ischemia | 0.000271442 | 1 | 0 | BeFree |
Leishmaniasis, Visceral | 0.000271442 | 1 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Lymphoid leukemia | 0.000271442 | 1 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukodystrophy | 0.000271442 | 1 | 0 | BeFree |
Liver Cirrhosis | 0.000271442 | 1 | 0 | BeFree |
Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
Lupus Nephritis | 0.000271442 | 1 | 0 | BeFree |
Marfan Syndrome | 0.000271442 | 1 | 0 | BeFree |
Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
Multiple Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Muscular Atrophy | 0.000271442 | 1 | 0 | BeFree |
Myocardial Infarction | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Adenomatous Polyposis Coli | 0.000271442 | 1 | 0 | BeFree |
Precancerous Conditions | 0.000271442 | 1 | 0 | BeFree |
Ureteral obstruction | 0.000271442 | 1 | 0 | BeFree |
Varicosity | 0.000271442 | 1 | 0 | BeFree |
Encephalopathies | 0.000271442 | 1 | 0 | BeFree |
Benign Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Pancreatitis, Chronic | 0.000271442 | 1 | 0 | BeFree |
Myocardial Ischemia | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of bone | 0.000271442 | 1 | 0 | BeFree |
Acute myocardial infarction | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Cervical Intraepithelial Neoplasia | 0.000271442 | 1 | 0 | BeFree |
Strawberry nevus of skin | 0.000271442 | 1 | 0 | BeFree |
Neuroendocrine Tumors | 0.000271442 | 1 | 0 | BeFree |
Neurologic Symptoms | 0.000271442 | 1 | 1 | BeFree |
Medullary carcinoma of thyroid | 0.000271442 | 1 | 0 | BeFree |
Papillary thyroid carcinoma | 0.000271442 | 1 | 1 | BeFree |
Thrombotic stroke | 0.000271442 | 1 | 0 | BeFree |
Hereditary Cerebral Amyloid Angiopathy, Dutch Type | 0.000271442 | 1 | 0 | BeFree |
Inflammatory Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Extramedullary Plasmacytoma | 0.000271442 | 1 | 0 | BeFree |
Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
Subcortical Vascular Dementia | 0.000271442 | 1 | 0 | BeFree |
Primary sclerosing cholangitis | 0.000271442 | 1 | 0 | BeFree |
Hereditary Breast and Ovarian Cancer Syndrome | 0.000271442 | 1 | 0 | BeFree |
Lewy Body Disease | 0.000271442 | 1 | 0 | BeFree |
AICARDI-GOUTIERES SYNDROME 1 | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma non-resectable | 0.000271442 | 1 | 0 | BeFree |
Endothelial dysfunction | 0.000271442 | 1 | 0 | BeFree |
Hajdu-Cheney Syndrome | 0.000271442 | 1 | 0 | BeFree |
Invasive Ductal Breast Carcinoma | 0.000271442 | 1 | 6 | BeFree |
Vascular degeneration | 0.000271442 | 1 | 0 | BeFree |
Precursor B-cell lymphoblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma | 0.000271442 | 1 | 0 | BeFree |
Ovarian Serous Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Epithelioma | 0.000271442 | 1 | 0 | BeFree |
Cirrhosis | 0.000271442 | 1 | 0 | BeFree |
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