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This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因是编码具有三个细胞骨架相关蛋白 - 甘氨酸 - 保守(CAP-GLY)结构域,其功能如同一个去泛素化酶胞质蛋白。在这种基因突变与cylindromatosis,多发性家族性毛发上皮瘤,和布鲁克-Spiegler综合征。备用转录剪接变体,编码不同同种型,已经表征。 [由RefSeq的,2008年7月提供]
CYLD基因(以及对应的蛋白质)的细胞分布位置:
CYLD基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Familial multiple trichoepitheliomata | 0.363257302 | 13 | 2 | BeFree_CLINVAR_ORPHANET_UNIPROT |
Brooke-Spiegler syndrome | 0.245157396 | 19 | 2 | BeFree_CLINVAR_UNIPROT |
Ancell-Spiegler cylindromas | 0.24 | 0 | 2 | CLINVAR_ORPHANET |
Liver carcinoma | 0.126534468 | 5 | 0 | BeFree_CTD_human_LHGDN |
Eccrine dermal cylindroma | 0.125428837 | 21 | 1 | BeFree_CTD_human |
Non-Small Cell Lung Carcinoma | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Listeriosis | 0.12 | 1 | 0 | CTD_human |
Thymoma | 0.12 | 1 | 0 | CTD_human |
Infection | 0.0054487 | 2 | 0 | LHGDN |
Multiple Myeloma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Hodgkin Disease | 0.00272435 | 1 | 0 | LHGDN |
Inflammatory Bowel Diseases | 0.002367032 | 1 | 1 | GAD |
Leprosy | 0.002367032 | 1 | 1 | GAD |
Alkaline Phosphatase Adverse Event | 0.002367032 | 1 | 1 | GAD |
Adenoid Cystic Carcinoma | 0.002171535 | 8 | 0 | BeFree |
Carcinogenesis | 0.001628651 | 6 | 0 | BeFree |
Skin Neoplasms | 0.001357209 | 5 | 0 | BeFree |
Squamous cell carcinoma | 0.001085767 | 4 | 0 | BeFree |
Trichoepithelioma | 0.001085767 | 4 | 0 | BeFree |
Neoplasm Metastasis | 0.000814326 | 3 | 0 | BeFree |
Urinary tract infection | 0.000814326 | 3 | 0 | BeFree |
Esophageal carcinoma | 0.000814326 | 3 | 0 | BeFree |
Eccrine spiradenoma | 0.000814326 | 3 | 0 | BeFree |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.000814326 | 3 | 0 | BeFree |
Adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of skin | 0.000542884 | 2 | 0 | BeFree |
Esophageal Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Leukemia, T-Cell | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of esophagus | 0.000542884 | 2 | 0 | BeFree |
Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Intraepithelial Neoplasia | 0.000542884 | 2 | 0 | BeFree |
Experimental Organism Basal Cell Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Arthritis | 0.000271442 | 1 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Atherosclerosis | 0.000271442 | 1 | 0 | BeFree |
Bacteremia | 0.000271442 | 1 | 0 | BeFree |
Bacterial Infections | 0.000271442 | 1 | 0 | BeFree |
Benign neoplasm of skin | 0.000271442 | 1 | 0 | BeFree |
Brenner Tumor | 0.000271442 | 1 | 1 | BeFree |
Diarrhea | 0.000271442 | 1 | 0 | BeFree |
Peptic Esophagitis | 0.000271442 | 1 | 0 | BeFree |
Gastroesophageal reflux disease | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Parathyroid Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Pneumonia | 0.000271442 | 1 | 0 | BeFree |
Adenomatous Polyposis Coli | 0.000271442 | 1 | 0 | BeFree |
Prostatic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Psoriasis | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Short Bowel Syndrome | 0.000271442 | 1 | 0 | BeFree |
B-Cell Lymphomas | 0.000271442 | 1 | 0 | BeFree |
Carcinoma, Spindle-Cell | 0.000271442 | 1 | 0 | BeFree |
Undifferentiated carcinoma | 0.000271442 | 1 | 0 | BeFree |
Infections, Hospital | 0.000271442 | 1 | 0 | BeFree |
Community-Acquired Infections | 0.000271442 | 1 | 0 | BeFree |
Papillary thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pneumonia due to Escherichia coli | 0.000271442 | 1 | 0 | BeFree |
Transmissible mink encephalopathy | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma Of Esophagus | 0.000271442 | 1 | 0 | BeFree |
Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Developmental delay (disorder) | 0.000271442 | 1 | 0 | BeFree |
Leukemogenesis | 0.000271442 | 1 | 0 | BeFree |
Gastro-esophageal reflux disease with esophagitis | 0.000271442 | 1 | 0 | BeFree |
Skin carcinoma | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Classical Hodgkin's Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Tumor Angiogenesis | 0.000271442 | 1 | 0 | BeFree |
Xenograft Model | 0.000271442 | 1 | 0 | BeFree |
Limb ischemia | 0.000271442 | 1 | 0 | BeFree |
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