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This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因属于G-蛋白偶联受体1家族,视蛋白亚家族。它编码蓝色锥体颜料基因,其是三种负责正常色觉锥光感受器中的一个。这种基因缺陷是特里坦色盲(蓝色盲)的原因。受影响的个人缺乏蓝色和黄色的感官机制,同时保留那些红色和绿色。有缺陷的蓝色愿景是特点。 [由RefSeq的,2008年7月提供]
OPN1SW基因(以及对应的蛋白质)的细胞分布位置:
OPN1SW基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Color Blindness, Blue | 0.482638474 | 2 | 3 | BeFree_CLINVAR_CTD_human_GAD_ORPHANET_UNIPROT |
Color vision defect | 0.002995792 | 2 | 4 | BeFree_LHGDN |
Acute lymphocytic leukemia | 0.002714419 | 10 | 0 | BeFree |
leukemia | 0.002442977 | 9 | 0 | BeFree |
Retinal Diseases | 0.002367032 | 1 | 0 | GAD |
Hepatitis B | 0.002171535 | 8 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.001900093 | 7 | 0 | BeFree |
Neoplasm, Residual | 0.001357209 | 5 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.001085767 | 4 | 0 | BeFree |
Leukemogenesis | 0.001085767 | 4 | 0 | BeFree |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.001085767 | 4 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000814326 | 3 | 0 | BeFree |
Malignant Childhood Neoplasm | 0.000814326 | 3 | 0 | BeFree |
Primary Effusion Lymphoma | 0.000814326 | 3 | 0 | BeFree |
Liver carcinoma | 0.000814326 | 3 | 0 | BeFree |
Mixed phenotype acute leukemia | 0.000814326 | 3 | 0 | BeFree |
Blast Phase | 0.000542884 | 2 | 0 | BeFree |
Glioblastoma | 0.000542884 | 2 | 0 | BeFree |
Leukemia, Lymphocytic, Acute, L1 | 0.000542884 | 2 | 0 | BeFree |
Liver Cirrhosis | 0.000542884 | 2 | 0 | BeFree |
Liver diseases | 0.000542884 | 2 | 0 | BeFree |
Kaposi Sarcoma | 0.000542884 | 2 | 0 | BeFree |
B-Cell Lymphomas | 0.000542884 | 2 | 0 | BeFree |
Severe Combined Immunodeficiency | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000542884 | 2 | 0 | BeFree |
Hepatitis B, Chronic | 0.000542884 | 2 | 0 | BeFree |
Precursor B-cell lymphoblastic leukemia | 0.000542884 | 2 | 0 | BeFree |
MULTICYSTIC RENAL DYSPLASIA, BILATERAL | 0.000542884 | 2 | 0 | BeFree |
Anxiety Disorders | 0.000271442 | 1 | 0 | BeFree |
Choriocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
Down Syndrome | 0.000271442 | 1 | 0 | BeFree |
Fibromuscular Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Hepatitis | 0.000271442 | 1 | 0 | BeFree |
Hepatitis A | 0.000271442 | 1 | 0 | BeFree |
Lymphoid leukemia | 0.000271442 | 1 | 0 | BeFree |
Acute biphenotypic leukemia | 0.000271442 | 1 | 0 | BeFree |
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
Adenomatous Polyposis Coli | 0.000271442 | 1 | 0 | BeFree |
Diffuse Large B-Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
X-linked agammaglobulinemia | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Age related macular degeneration | 0.000271442 | 1 | 0 | BeFree |
Coinfection | 0.000271442 | 1 | 0 | BeFree |
Acute type B viral hepatitis | 0.000271442 | 1 | 0 | BeFree |
Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 0.000271442 | 1 | 0 | BeFree |
Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Adult Acute Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Philadelphia chromosome positive | 0.000271442 | 1 | 0 | BeFree |
Sarcoma | 0.000271442 | 1 | 0 | BeFree |
Childhood Leukemia | 0.000271442 | 1 | 0 | BeFree |
Geographic Atrophy | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma Multiforme | 0.000271442 | 1 | 0 | BeFree |
Cirrhosis | 0.000271442 | 1 | 0 | BeFree |
Acute-On-Chronic Liver Failure | 0.000271442 | 1 | 0 | BeFree |
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