更多...
收起
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
[中文简述(自动翻译):]  该基因显然是需要在人类小脑都和皮质的发展。此基因的突变会导致茹贝尔综合征相关的病症的具体形式。茹贝尔综合征(JS)是一种隐性遗传发育大脑功能紊乱与几个致病确定的染色体位点。编码不同同种型的可变剪接转录物变体也已确定。 [由RefSeq的,2008年10月提供]
AHI1基因(以及对应的蛋白质)的细胞分布位置:
AHI1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
JOUBERT SYNDROME 3 | 0.44 | 4 | 29 | CLINVAR_CTD_human_MGD_UNIPROT |
Schizophrenia | 0.137631247 | 10 | 0 | BeFree_CTD_human_GAD_LHGDN |
Autistic Disorder | 0.123452799 | 4 | 0 | BeFree_CTD_human_GAD |
Multiple Sclerosis | 0.122367032 | 1 | 1 | GAD_GWASCAT |
Retinal Degeneration | 0.120271442 | 1 | 0 | BeFree_CTD_human |
Cerebellar Diseases | 0.12 | 1 | 0 | CTD_human |
Intellectual Disability | 0.12 | 1 | 0 | CTD_human |
Familial aplasia of the vermis | 0.005971721 | 22 | 1 | BeFree |
Myeloid Leukemia, Chronic | 0.004353001 | 6 | 0 | BeFree_LHGDN |
Kidney Diseases | 0.003538676 | 3 | 0 | BeFree_LHGDN |
Diabetes Mellitus, Non-Insulin-Dependent | 0.002638474 | 2 | 0 | BeFree_GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
leukemia | 0.001900093 | 7 | 0 | BeFree |
Nephronophthisis | 0.001357209 | 5 | 0 | BeFree |
Lymphoma | 0.001085767 | 4 | 0 | BeFree |
Gastroenteritis | 0.000814326 | 3 | 0 | BeFree |
Lymphoma, T-Cell, Cutaneous | 0.000814326 | 3 | 0 | BeFree |
Hepatitis E | 0.000814326 | 3 | 0 | BeFree |
Carcinogenesis | 0.000814326 | 3 | 0 | BeFree |
Retinal Dystrophies | 0.000814326 | 3 | 0 | BeFree |
Rheumatoid Arthritis | 0.000542884 | 2 | 0 | BeFree |
HIV Infections | 0.000542884 | 2 | 0 | BeFree |
Adult T-Cell Lymphoma/Leukemia | 0.000542884 | 2 | 0 | BeFree |
Retinitis Pigmentosa | 0.000542884 | 2 | 0 | BeFree |
Sezary Syndrome | 0.000542884 | 2 | 0 | BeFree |
B-Cell Lymphomas | 0.000542884 | 2 | 0 | BeFree |
Polymicrogyria | 0.000542884 | 2 | 0 | BeFree |
Acute gastroenteritis | 0.000542884 | 2 | 0 | BeFree |
Fulminant hepatitis | 0.000542884 | 2 | 0 | BeFree |
Leukemogenesis | 0.000542884 | 2 | 0 | BeFree |
Human T-cell lymphotropic virus 1 infection | 0.000542884 | 2 | 0 | BeFree |
Tumors in animals | 0.000542884 | 2 | 0 | BeFree |
Anemia | 0.000271442 | 1 | 0 | BeFree |
Bipolar Disorder | 0.000271442 | 1 | 0 | BeFree |
Brain Diseases | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Mental Depression | 0.000271442 | 1 | 0 | BeFree |
Depressive disorder | 0.000271442 | 1 | 0 | BeFree |
Fibrosarcoma | 0.000271442 | 1 | 0 | BeFree |
Atrial Septal Defects | 0.000271442 | 1 | 0 | BeFree |
Hepatitis | 0.000271442 | 1 | 0 | BeFree |
Hepatitis A | 0.000271442 | 1 | 0 | BeFree |
Angioimmunoblastic Lymphadenopathy | 0.000271442 | 1 | 0 | BeFree |
Cystic kidney | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
Mental Retardation | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Psychotic Disorders | 0.000271442 | 1 | 0 | BeFree |
Retinal Diseases | 0.000271442 | 1 | 0 | BeFree |
Thymoma | 0.000271442 | 1 | 0 | BeFree |
Zoonoses | 0.000271442 | 1 | 0 | BeFree |
Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
Teratocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Neurologic Symptoms | 0.000271442 | 1 | 1 | BeFree |
Congenital anomaly of the kidney | 0.000271442 | 1 | 0 | BeFree |
Congenital anomaly of brain | 0.000271442 | 1 | 0 | BeFree |
Acute hepatitis | 0.000271442 | 1 | 0 | BeFree |
Leber Congenital Amaurosis | 0.000271442 | 1 | 0 | BeFree |
Nonorganic psychosis | 0.000271442 | 1 | 0 | BeFree |
Developmental delay (disorder) | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Precursor B-cell lymphoblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
Autism Spectrum Disorders | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
Neurodevelopmental Disorders | 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。