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This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]
[中文简述(自动翻译):]  该基因编码DNA聚合酶三角洲的125 kDa的催化亚单位。的DNA聚合酶δ具有既聚合酶和3‘至5‘外切酶活性和在DNA复制和修复的关键作用。另外剪接转录变体已经观察到这种基因,而这种基因的假基因位于[由RefSeq的,2012年3月提供]的6号染色体长臂
POLD1基因(以及对应的蛋白质)的细胞分布位置:
POLD1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME | 0.240271442 | 1 | 1 | BeFree_CLINVAR_ORPHANET |
| COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | 0.24 | 2 | 3 | CLINVAR_UNIPROT |
| Lipodystrophy | 0.120542884 | 2 | 0 | BeFree_CTD_human |
| Colorectal Neoplasms | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Deafness | 0.12 | 1 | 0 | CTD_human |
| Endometrial Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Hypogonadism | 0.12 | 1 | 0 | CTD_human |
| Jaw Abnormalities | 0.12 | 1 | 0 | CTD_human |
| Malignant neoplasm of breast | 0.008729747 | 8 | 27 | BeFree_GAD |
| Malignant neoplasm of urinary bladder | 0.007372538 | 4 | 0 | BeFree_GAD |
| Colonic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Malignant neoplasm of lung | 0.002638474 | 2 | 0 | BeFree_GAD |
| Graft-vs-Host Disease | 0.002367032 | 1 | 0 | GAD |
| Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
| Multiple Sclerosis | 0.002367032 | 1 | 0 | GAD |
| Hematologic Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Endometrial Carcinoma | 0.002171535 | 8 | 1 | BeFree |
| Liver carcinoma | 0.002171535 | 8 | 0 | BeFree |
| Colorectal Cancer | 0.001900093 | 7 | 1 | BeFree |
| Malignant neoplasm of endometrium | 0.001628651 | 6 | 1 | BeFree |
| Colorectal Carcinoma | 0.001628651 | 6 | 0 | BeFree |
| Uterine Corpus Cancer | 0.001628651 | 6 | 1 | BeFree |
| Glioma | 0.001357209 | 5 | 0 | BeFree |
| Breast Carcinoma | 0.001357209 | 5 | 27 | BeFree |
| Adenoma of large intestine | 0.001357209 | 5 | 0 | BeFree |
| HIV Infections | 0.001085767 | 4 | 0 | BeFree |
| leukemia | 0.001085767 | 4 | 0 | BeFree |
| Liver neoplasms | 0.001085767 | 4 | 0 | BeFree |
| Retinoblastoma | 0.001085767 | 4 | 0 | BeFree |
| Alzheimer's Disease | 0.000814326 | 3 | 0 | BeFree |
| Malignant tumor of colon | 0.000814326 | 3 | 0 | BeFree |
| Glioblastoma | 0.000814326 | 3 | 0 | BeFree |
| Neurofibrillary degeneration (morphologic abnormality) | 0.000814326 | 3 | 0 | BeFree |
| Carcinogenesis | 0.000814326 | 3 | 0 | BeFree |
| Colon Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Fanconi Anemia | 0.000542884 | 2 | 0 | BeFree |
| melanoma | 0.000542884 | 2 | 0 | BeFree |
| Ovarian Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Adenomatous Polyposis Coli | 0.000542884 | 2 | 0 | BeFree |
| B-Cell Lymphomas | 0.000542884 | 2 | 0 | BeFree |
| Diffuse Large B-Cell Lymphoma | 0.000542884 | 2 | 0 | BeFree |
| Multiple polyps | 0.000542884 | 2 | 0 | BeFree |
| Alzheimer Disease, Late Onset | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.000542884 | 2 | 0 | BeFree |
| Squamous cell carcinoma of the head and neck | 0.000542884 | 2 | 0 | BeFree |
| FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | 0.000542884 | 2 | 0 | BeFree |
| Ataxia Telangiectasia | 0.000271442 | 1 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cerebral Infarction | 0.000271442 | 1 | 0 | BeFree |
| Coronary Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
| Coronary heart disease | 0.000271442 | 1 | 0 | BeFree |
| Endometriosis | 0.000271442 | 1 | 0 | BeFree |
| Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
| Acute Promyelocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
| Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Medulloblastoma | 0.000271442 | 1 | 0 | BeFree |
| Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
| Pituitary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Cerebrovascular accident | 0.000271442 | 1 | 0 | BeFree |
| Hepatoblastoma | 0.000271442 | 1 | 0 | BeFree |
| Giant Cell Tumor of Bone | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma breast stage IV | 0.000271442 | 1 | 0 | BeFree |
| Senile Plaques | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Malignant Glioma | 0.000271442 | 1 | 0 | BeFree |
| Multisystem disorder | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of lymph node | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
| Diffuse large B-cell lymphoma recurrent | 0.000271442 | 1 | 0 | BeFree |
| Infectious disease of lung | 0.000271442 | 1 | 0 | BeFree |
| Pneumocystis jiroveci pneumonia | 0.000271442 | 1 | 0 | BeFree |
| Coronary Artery Disease | 0.000271442 | 1 | 0 | BeFree |
| Promyelocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Triple Negative Breast Neoplasms | 0.000271442 | 1 | 10 | BeFree |
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