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This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]
[中文简述(自动翻译):]  这个基因编码DNA聚合酶小量的催化亚基。酶是参与DNA修复和染色体DNA的复制。在这个基因的突变已与结肠癌12和面部畸形,免疫缺陷,青斑,以及身材矮小相关联。 [由RefSeq的,2013年9月提供]
POLE基因(以及对应的蛋白质)的细胞分布位置:
POLE基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE | 0.240271442 | 1 | 1 | BeFree_CLINVAR_ORPHANET |
| COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | 0.24 | 1 | 1 | CLINVAR_UNIPROT |
| Colorectal Neoplasms | 0.12 | 2 | 0 | CTD_human |
| Endometrial Carcinoma | 0.002985861 | 11 | 1 | BeFree |
| Lung Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Mammary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Narcolepsy | 0.002638474 | 1 | 0 | BeFree_GAD |
| Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD |
| Malignant neoplasm of breast | 0.002367032 | 1 | 0 | GAD |
| Graft-vs-Host Disease | 0.002367032 | 1 | 0 | GAD |
| Chronic Lymphocytic Leukemia | 0.002367032 | 1 | 0 | GAD |
| Multiple Sclerosis | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Malignant neoplasm of lung | 0.002367032 | 1 | 0 | GAD |
| Hematologic Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Colorectal Cancer | 0.002171535 | 8 | 1 | BeFree |
| Colorectal Carcinoma | 0.001900093 | 7 | 1 | BeFree |
| Malignant neoplasm of endometrium | 0.001628651 | 6 | 1 | BeFree |
| Uterine Corpus Cancer | 0.001628651 | 6 | 1 | BeFree |
| Adenoma of large intestine | 0.001085767 | 4 | 0 | BeFree |
| Multiple polyps | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
| Microcephaly | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma, Endometrioid | 0.000271442 | 1 | 0 | BeFree |
| Turcot syndrome (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of esophagus | 0.000271442 | 1 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Endometrial Endometrioid Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
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