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The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  Rh血型系统是血型的第二临床最显著,仅次于ABO。它也是最具多态性的血型,与因缺失变异,基因转换和错义突变。 Rh血型包括该基因,其编码的RhD蛋白,并且在一个单一的多肽编码两者RHC和RHE抗原的第二基因。这两个基因,以及第三无关基因,在一个簇中发现1号染色体上Rh阳性和Rh阴性个体的分类是由红细胞的表面上的存在或不存在的高度免疫原性的RhD蛋白的测定。已发现该基因编码不同亚型的多个抄本变形。 [由RefSeq的,2008年7月提供]
RHD基因(以及对应的蛋白质)的细胞分布位置:
RHD基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Anemia, Hemolytic, Congenital | 0.12 | 1 | 0 | CTD_human |
Rh Deficiency Syndrome | 0.12 | 0 | 0 | ORPHANET |
Schizophrenia | 0.008544182 | 5 | 0 | BeFree_GAD_LHGDN |
Erythroblastosis, Fetal | 0.008186863 | 6 | 0 | BeFree_GAD |
Rhabdomyosarcoma | 0.003800186 | 14 | 0 | BeFree |
Diabetes Mellitus | 0.00272435 | 1 | 0 | LHGDN |
Alveolar rhabdomyosarcoma | 0.002442977 | 9 | 0 | BeFree |
Asthma | 0.002367032 | 1 | 0 | GAD |
Crohn Disease | 0.002367032 | 1 | 0 | GAD |
Liver Cirrhosis, Alcoholic | 0.002367032 | 1 | 0 | GAD |
Malaria | 0.002367032 | 1 | 0 | GAD |
Mucocutaneous Lymph Node Syndrome | 0.002367032 | 1 | 0 | GAD |
Myocardial Infarction | 0.002367032 | 1 | 0 | GAD |
Psoriasis vulgaris | 0.002367032 | 1 | 0 | GAD |
Hemolytic disorder | 0.001357209 | 5 | 0 | BeFree |
Anemia, Sickle Cell | 0.000542884 | 2 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.000542884 | 2 | 0 | BeFree |
Rheumatic Heart Disease | 0.000542884 | 2 | 0 | BeFree |
childhood rhabdomyosarcoma | 0.000542884 | 2 | 0 | BeFree |
Anemia | 0.000271442 | 1 | 0 | BeFree |
Down Syndrome | 0.000271442 | 1 | 0 | BeFree |
Eclampsia | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Seizures | 0.000271442 | 1 | 0 | BeFree |
Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
Hemolytic disease of fetus OR newborn due to RhD isoimmunization | 0.000271442 | 1 | 0 | BeFree |
Rhabdomyosarcoma, Embryonal | 0.000271442 | 1 | 0 | BeFree |
Rhabdoid Tumor | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
early pregnancy | 0.000271442 | 1 | 0 | BeFree |
Undifferentiated (Embryonal) Sarcoma | 0.000271442 | 1 | 0 | BeFree |
Alloimmunisation | 0.000271442 | 1 | 0 | BeFree |
Atypical teratoid/rhabdoid tumor | 0.000271442 | 1 | 0 | BeFree |
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