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This gene is located in an imprinted region of chromosome 11 near the insulin-like growth factor 2 (IGF2) gene. This gene is only expressed from the maternally-inherited chromosome, whereas IGF2 is only expressed from the paternally-inherited chromosome. The product of this gene is a long non-coding RNA which functions as a tumor suppressor. Mutations in this gene have been associated with Beckwith-Wiedemann Syndrome and Wilms tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
[中文简述(自动翻译):]  该基因位于胰岛素样生长因子2(IGF2)基因邻近的染色体11的压印区域。该基因只从母系遗传染色体表达,而IGF2仅从父系继承染色体表达。这个基因的产物是一个长的非编码RNA,其功能作为肿瘤抑制基因。该基因突变与威思 - 威德曼综合征和肾母细胞肿瘤发生有关。选择性剪接结果在多个抄本变形。 [由RefSeq的,2015年4月提供]
H19基因(以及对应的蛋白质)的细胞分布位置:
H19基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Beckwith-Wiedemann Syndrome | 0.253059004 | 21 | 0 | BeFree_CLINVAR_CTD_human_LHGDN |
Russell-Silver syndrome | 0.122985861 | 12 | 0 | BeFree_CTD_human |
Nephroblastoma | 0.121357209 | 5 | 0 | BeFree_ORPHANET |
Hepatitis, Animal | 0.12 | 1 | 0 | CTD_human |
Liver Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
Congenital hemihypertrophy | 0.12 | 0 | 0 | ORPHANET |
Familial Wilms tumor 2 | 0.12 | 0 | 0 | CTD_human |
Malignant neoplasm of breast | 0.008186863 | 7 | 1 | BeFree_GAD |
Bladder Neoplasm | 0.005720142 | 2 | 0 | BeFree_LHGDN |
Liver carcinoma | 0.003810118 | 5 | 0 | BeFree_LHGDN |
Mammary Neoplasms | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Malignant neoplasm of urinary bladder | 0.003181358 | 3 | 0 | BeFree_GAD |
Squamous cell carcinoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Congenital Abnormality | 0.00272435 | 1 | 0 | LHGDN |
Rheumatoid Arthritis | 0.00272435 | 1 | 0 | LHGDN |
Myeloproliferative disease | 0.00272435 | 1 | 0 | LHGDN |
Ovarian Failure, Premature | 0.00272435 | 1 | 0 | LHGDN |
Angiofibroma | 0.00272435 | 1 | 0 | LHGDN |
Infection | 0.00272435 | 1 | 0 | LHGDN |
Spontaneous abortion | 0.002367032 | 1 | 0 | GAD |
Pre-Eclampsia | 0.002367032 | 1 | 0 | GAD |
Pregnancy loss | 0.002367032 | 1 | 0 | GAD |
Niemann-Pick Diseases | 0.001900093 | 7 | 0 | BeFree |
Breast Carcinoma | 0.001628651 | 6 | 1 | BeFree |
Carcinoma of bladder | 0.001628651 | 6 | 0 | BeFree |
Diphtheria | 0.000814326 | 3 | 0 | BeFree |
Neoplasm Metastasis | 0.000814326 | 3 | 0 | BeFree |
Rhabdomyosarcoma | 0.000814326 | 3 | 0 | BeFree |
Germ cell tumor | 0.000814326 | 3 | 0 | BeFree |
Secondary malignant neoplasm of liver | 0.000814326 | 3 | 0 | BeFree |
Adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
Choriocarcinoma | 0.000542884 | 2 | 0 | BeFree |
Embryonal Neoplasm | 0.000542884 | 2 | 0 | BeFree |
Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
Hepatoblastoma | 0.000542884 | 2 | 0 | BeFree |
Adrenal Cortical Adenoma | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Complete hydatidiform mole | 0.000542884 | 2 | 0 | BeFree |
Gestational trophoblastic disease | 0.000542884 | 2 | 0 | BeFree |
Adenoma | 0.000271442 | 1 | 0 | BeFree |
Adrenal gland hypofunction | 0.000271442 | 1 | 0 | BeFree |
Asthma | 0.000271442 | 1 | 0 | BeFree |
beta Thalassemia | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cystic Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Diabetic Retinopathy | 0.000271442 | 1 | 0 | BeFree |
Eclampsia | 0.000271442 | 1 | 0 | BeFree |
Gigantism | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
Klippel-Trenaunay-Weber Syndrome | 0.000271442 | 1 | 0 | BeFree |
Fibroid Tumor | 0.000271442 | 1 | 0 | BeFree |
Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
Chronic Obstructive Airway Disease | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
Chloasma | 0.000271442 | 1 | 0 | BeFree |
Inborn Errors of Metabolism | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Prader-Willi Syndrome | 0.000271442 | 1 | 0 | BeFree |
Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
Schizoaffective Disorder | 0.000271442 | 1 | 0 | BeFree |
Seminoma | 0.000271442 | 1 | 0 | BeFree |
Dermatologic disorders | 0.000271442 | 1 | 0 | BeFree |
Uterine Fibroids | 0.000271442 | 1 | 0 | BeFree |
Lysosomal Storage Diseases | 0.000271442 | 1 | 0 | BeFree |
Recurrent major depressive episodes | 0.000271442 | 1 | 0 | BeFree |
Teratocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Adrenocortical carcinoma | 0.000271442 | 1 | 0 | BeFree |
Rhabdoid Tumor | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
Bipolar II disorder | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Niemann-Pick Disease, Type B | 0.000271442 | 1 | 0 | BeFree |
Liver and Intrahepatic Biliary Tract Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Adrenal cortical hypofunction | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Adult Acute Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Bipolar I disorder | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
Benign Prostatic Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Skin Pigmentation Disorder | 0.000271442 | 1 | 0 | BeFree |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies | 0.000271442 | 1 | 0 | BeFree |
HEMIHYPERPLASIA, ISOLATED | 0.000271442 | 1 | 0 | BeFree |
Nasopharyngeal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Overgrowth Syndrome | 0.000271442 | 1 | 0 | BeFree |
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