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This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
[中文简述(自动翻译):]  该基因印记,与产妇等位基因优先表达。所编码的蛋白质是几种G1细胞周期蛋白/ CDK复合物的紧密结合,强抑制剂和细胞增殖的负调节剂。在这种基因突变牵连零星癌症和贝克威思-威德曼syndorome,这表明该基因是一种肿瘤抑制候选。已发现该基因编码的两种不同亚型三个抄本变形。 [由RefSeq的,2010年10月提供]
CDKN1C基因(以及对应的蛋白质)的细胞分布位置:
CDKN1C基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies | 0.361628651 | 6 | 6 | BeFree_CLINVAR_ORPHANET_UNIPROT |
Beckwith-Wiedemann Syndrome | 0.266088214 | 66 | 15 | BeFree_CLINVAR_CTD_human_LHGDN |
Adenocarcinoma | 0.12 | 1 | 0 | CTD_human |
Endometrial Neoplasms | 0.12 | 1 | 0 | CTD_human |
Endometrial Hyperplasia | 0.12 | 1 | 0 | CTD_human |
Lung Neoplasms | 0.12 | 2 | 0 | CTD_human |
melanoma | 0.12 | 1 | 0 | CTD_human |
Pancreatic Neoplasm | 0.0054487 | 2 | 0 | LHGDN |
Hydatidiform Mole | 0.005428837 | 20 | 0 | BeFree |
Complete hydatidiform mole | 0.005428837 | 20 | 0 | BeFree |
leukemia | 0.003538676 | 3 | 0 | BeFree_LHGDN |
Hydatidiform Mole, Partial | 0.003528744 | 13 | 0 | BeFree |
Carcinogenesis | 0.003528744 | 13 | 0 | BeFree |
Glioblastoma | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Mammary Neoplasms | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Atherosclerosis | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Esophageal Neoplasms | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Mesothelioma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Myocardial Infarction | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Thyroid Neoplasm | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Mucosa-Associated Lymphoid Tissue Lymphoma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
ovarian neoplasm | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Russell-Silver syndrome | 0.002985861 | 11 | 0 | BeFree |
HYDATIDIFORM MOLE, RECURRENT, 1 | 0.002985861 | 11 | 0 | BeFree |
Malignant neoplasm of urinary bladder | 0.002909916 | 3 | 0 | BeFree_GAD |
Malignant neoplasm of lung | 0.002909916 | 3 | 0 | BeFree_GAD |
Liver carcinoma | 0.002714419 | 10 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.002638474 | 1 | 0 | BeFree_GAD |
Chronic Obstructive Airway Disease | 0.002638474 | 2 | 0 | BeFree_GAD |
Epithelial ovarian cancer | 0.002638474 | 2 | 0 | BeFree_GAD |
Nephroblastoma | 0.002442977 | 9 | 0 | BeFree |
Multiple Endocrine Neoplasia Type 1 | 0.002367032 | 1 | 0 | GAD |
body mass | 0.002367032 | 1 | 0 | GAD |
Triploidy syndrome | 0.001900093 | 7 | 0 | BeFree |
Malignant neoplasm of breast | 0.001628651 | 6 | 0 | BeFree |
Nevus | 0.001628651 | 6 | 0 | BeFree |
Melanocytic nevus | 0.001628651 | 6 | 0 | BeFree |
Breast Carcinoma | 0.001628651 | 6 | 0 | BeFree |
Benign melanocytic nevus | 0.001628651 | 6 | 0 | BeFree |
Acute lymphocytic leukemia | 0.001357209 | 5 | 0 | BeFree |
Neoplasm Metastasis | 0.001357209 | 5 | 0 | BeFree |
Tumor Progression | 0.001357209 | 5 | 0 | BeFree |
Umbilical hernia | 0.001085767 | 4 | 0 | BeFree |
Congenital exomphalos | 0.001085767 | 4 | 0 | BeFree |
Overgrowth Syndrome | 0.001085767 | 4 | 0 | BeFree |
Congenital Abnormality | 0.000814326 | 3 | 0 | BeFree |
Choriocarcinoma | 0.000814326 | 3 | 0 | BeFree |
Hyperinsulinism | 0.000814326 | 3 | 0 | BeFree |
Lymphoid leukemia | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000814326 | 3 | 0 | BeFree |
Ovarian Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Retinoblastoma | 0.000814326 | 3 | 0 | BeFree |
Adrenal Cortical Adenoma | 0.000814326 | 3 | 0 | BeFree |
Stomach Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Adult Acute Lymphocytic Leukemia | 0.000814326 | 3 | 0 | BeFree |
Congenital omphalocele | 0.000814326 | 3 | 0 | BeFree |
Gestational Trophoblastic Neoplasms | 0.000814326 | 3 | 0 | BeFree |
Adenoma | 0.000542884 | 2 | 0 | BeFree |
Squamous cell carcinoma | 0.000542884 | 2 | 0 | BeFree |
Cleft Palate | 0.000542884 | 2 | 0 | BeFree |
Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Diabetes | 0.000542884 | 2 | 0 | BeFree |
Diabetes Mellitus | 0.000542884 | 2 | 0 | BeFree |
Glioma | 0.000542884 | 2 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000542884 | 2 | 0 | BeFree |
Lymphoma, Follicular | 0.000542884 | 2 | 0 | BeFree |
Neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Prader-Willi Syndrome | 0.000542884 | 2 | 0 | BeFree |
Rhabdomyosarcoma | 0.000542884 | 2 | 0 | BeFree |
B-Cell Lymphomas | 0.000542884 | 2 | 0 | BeFree |
Diffuse Large B-Cell Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Polycystic Kidney, Autosomal Dominant | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000542884 | 2 | 0 | BeFree |
Carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000542884 | 2 | 0 | BeFree |
Carcinoma of bladder | 0.000542884 | 2 | 0 | BeFree |
Central neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000542884 | 2 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Tumors of Adrenal Cortex | 0.000271442 | 1 | 0 | BeFree |
Adrenal gland hypofunction | 0.000271442 | 1 | 0 | BeFree |
Adrenal Gland Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Blast Phase | 0.000271442 | 1 | 0 | BeFree |
Rectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
Down Syndrome | 0.000271442 | 1 | 0 | BeFree |
Muscular Dystrophy, Duchenne | 0.000271442 | 1 | 0 | BeFree |
Dwarfism | 0.000271442 | 1 | 0 | BeFree |
IGA Glomerulonephritis | 0.000271442 | 1 | 0 | BeFree |
Hemangioma | 0.000271442 | 1 | 0 | BeFree |
Hydrocephalus | 0.000271442 | 1 | 0 | BeFree |
insulinoma | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Lymphocytic, Acute, L1 | 0.000271442 | 1 | 0 | BeFree |
Leukemia, T-Cell | 0.000271442 | 1 | 0 | BeFree |
Adult T-Cell Lymphoma/Leukemia | 0.000271442 | 1 | 0 | BeFree |
Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
Mitral Valve Stenosis | 0.000271442 | 1 | 0 | BeFree |
Multiple Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Pheochromocytoma | 0.000271442 | 1 | 0 | BeFree |
Preleukemia | 0.000271442 | 1 | 0 | BeFree |
Prostatic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Rectal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Low Grade Lymphoma (neoplasm) | 0.000271442 | 1 | 0 | BeFree |
Lymphoma, T-Cell, Cutaneous | 0.000271442 | 1 | 0 | BeFree |
Benign Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Oral Cavity Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Esophageal carcinoma | 0.000271442 | 1 | 0 | BeFree |
HELLP Syndrome | 0.000271442 | 1 | 0 | BeFree |
Williams Syndrome | 0.000271442 | 1 | 0 | BeFree |
Glomerulosclerosis (disorder) | 0.000271442 | 1 | 0 | BeFree |
Hepatoblastoma | 0.000271442 | 1 | 0 | BeFree |
Rhabdomyosarcoma, Embryonal | 0.000271442 | 1 | 0 | BeFree |
Adrenocortical carcinoma | 0.000271442 | 1 | 0 | BeFree |
Lip and Oral Cavity Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
Neoplasm, Residual | 0.000271442 | 1 | 0 | BeFree |
Transient neonatal diabetes mellitus | 0.000271442 | 1 | 0 | BeFree |
Gestational choriocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Adrenal cortical hypofunction | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of esophagus | 0.000271442 | 1 | 0 | BeFree |
Malignant Glioma | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | 0.000271442 | 1 | 0 | BeFree |
Helicobacter pylori infection | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of the head and neck | 0.000271442 | 1 | 0 | BeFree |
Sarcoma | 0.000271442 | 1 | 0 | BeFree |
Xenograft Model | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
Rectal Tumors | 0.000271442 | 1 | 0 | BeFree |
MULTICYSTIC RENAL DYSPLASIA, BILATERAL | 0.000271442 | 1 | 0 | BeFree |
Glucocorticoid Receptor Deficiency | 0.000271442 | 1 | 0 | BeFree |
Relative macrocephaly | 0.000271442 | 1 | 0 | BeFree |
Gestational trophoblastic disease | 0.000271442 | 1 | 0 | BeFree |
Nasopharyngeal carcinoma | 0.000271442 | 1 | 0 | BeFree |
MYELODYSPLASTIC SYNDROME | 0.000271442 | 1 | 0 | BeFree |
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