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This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
[中文简述(自动翻译):]  这个位点突变频率在遗传性非息肉结肠癌(HNPCC)。当克隆时,被发现是大肠杆菌错配修复基因mutS的的人同源物,与微卫星序列中HNPCC发现的特征的改变(RER +表型)相一致。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的,2012年4月提供]
MSH2基因(以及对应的蛋白质)的细胞分布位置:
MSH2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Torre-Muir syndrome | 0.375220608 | 36 | 2 | BeFree_CLINVAR_CTD_human_LHGDN_ORPHANET |
Turcot syndrome (disorder) | 0.365157396 | 19 | 6 | BeFree_CLINVAR_CTD_human_ORPHANET |
Hereditary Nonpolyposis Colorectal Cancer | 0.33183516 | 428 | 423 | BeFree_CLINVAR_GAD_ORPHANET |
Colorectal cancer, hereditary nonpolyposis, type 1 | 0.32 | 30 | 27 | CLINVAR_MGD_UNIPROT |
Hereditary Nonpolyposis Colorectal Neoplasms | 0.244973608 | 54 | 0 | CTD_human_GAD_LHGDN |
Colorectal Neoplasms | 0.201143185 | 41 | 0 | BeFree_CTD_human_GAD_LHGDN |
Colorectal Cancer | 0.14378884 | 287 | 4 | BeFree_GAD |
Glioma | 0.123181358 | 4 | 0 | BeFree_CTD_human_GAD |
Neoplastic Syndromes, Hereditary | 0.121357209 | 5 | 58 | BeFree_CLINVAR |
Neurofibromatosis 1 | 0.121085767 | 4 | 0 | BeFree_CTD_human |
ovarian neoplasm | 0.121085767 | 5 | 1 | BeFree_CTD_human |
Cafe au lait spots, multiple | 0.120271442 | 1 | 0 | BeFree_CTD_human |
Lynch syndrome I (site-specific colonic cancer) | 0.12 | 1 | 0 | CTD_human |
Colitis | 0.080542884 | 3 | 0 | BeFree_RGD |
Seizures | 0.08 | 1 | 0 | RGD |
Colorectal Carcinoma | 0.063245956 | 233 | 3 | BeFree |
Endometrial Carcinoma | 0.030640594 | 80 | 5 | BeFree_GAD |
Endometrial Neoplasms | 0.023546886 | 12 | 0 | BeFree_GAD_LHGDN |
Colonic Neoplasms | 0.019170141 | 10 | 0 | BeFree_GAD_LHGDN |
Squamous cell carcinoma | 0.01906052 | 15 | 0 | BeFree_LHGDN |
melanoma | 0.017521627 | 19 | 0 | BeFree_GAD_LHGDN |
Malignant neoplasm of breast | 0.016254175 | 28 | 1 | BeFree_GAD |
Adenocarcinoma | 0.015449781 | 17 | 0 | BeFree_GAD_LHGDN |
Malignant neoplasm of lung | 0.014006695 | 12 | 2 | BeFree_GAD |
Malignant tumor of colon | 0.013843535 | 51 | 11 | BeFree |
Lymphoma, Non-Hodgkin | 0.01372144 | 4 | 1 | BeFree_GAD_LHGDN |
Stomach Neoplasms | 0.012907115 | 5 | 0 | GAD_LHGDN |
Malignant neoplasm of ovary | 0.012062995 | 29 | 0 | BeFree_GAD |
Malignant neoplasm of stomach | 0.01198705 | 19 | 0 | BeFree_GAD |
Malignant neoplasm of endometrium | 0.011943442 | 44 | 4 | BeFree |
Uterine Corpus Cancer | 0.011943442 | 44 | 4 | BeFree |
Colon Carcinoma | 0.011129117 | 41 | 11 | BeFree |
Malignant neoplasm of urinary bladder | 0.011096779 | 9 | 0 | BeFree_GAD |
Carcinogenesis | 0.010586233 | 39 | 0 | BeFree |
Lymphoma | 0.010530151 | 11 | 0 | BeFree_GAD_LHGDN |
Pancreatic Neoplasm | 0.009825446 | 4 | 0 | GAD_LHGDN |
Glioblastoma | 0.009801702 | 7 | 0 | BeFree_LHGDN |
Multiple polyps | 0.009229024 | 34 | 0 | BeFree |
leukemia | 0.009087065 | 6 | 0 | BeFree_GAD_LHGDN |
Ovarian Carcinoma | 0.008414698 | 31 | 0 | BeFree |
Malignant neoplasm of prostate | 0.007719925 | 13 | 1 | BeFree_GAD |
Liver carcinoma | 0.007262917 | 9 | 0 | BeFree_GAD_LHGDN |
Microsatellite Instability | 0.007101096 | 3 | 0 | GAD |
Mammary Neoplasms | 0.006534468 | 6 | 0 | BeFree_LHGDN |
Breast Carcinoma | 0.006514605 | 24 | 1 | BeFree |
Adenomatous Polyposis Coli | 0.00643866 | 16 | 0 | BeFree_GAD |
Brain Neoplasms | 0.00617715 | 6 | 0 | BeFree_GAD_LHGDN |
Stomach Carcinoma | 0.005700279 | 21 | 0 | BeFree |
Gastrointestinal Neoplasms | 0.005091382 | 1 | 0 | GAD_LHGDN |
Head and Neck Neoplasms | 0.005091382 | 2 | 0 | GAD_LHGDN |
Neoplasm Recurrence, Local | 0.004734064 | 2 | 0 | GAD |
Sarcoma | 0.004624443 | 8 | 0 | BeFree_LHGDN |
Neoplasm Metastasis | 0.004353001 | 7 | 0 | BeFree_LHGDN |
Malignant neoplasm of pancreas | 0.003995683 | 7 | 1 | BeFree_GAD |
Epithelial ovarian cancer | 0.003995683 | 7 | 0 | BeFree_GAD |
Carcinoma, Endometrioid | 0.003538676 | 3 | 0 | BeFree_LHGDN |
Hematologic Neoplasms | 0.003538676 | 3 | 0 | BeFree_LHGDN |
Adenoma | 0.003528744 | 13 | 0 | BeFree |
Renal Cell Carcinoma | 0.003452799 | 4 | 0 | BeFree_GAD |
Crohn Disease | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Esophageal Neoplasms | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Prostate carcinoma | 0.003257302 | 12 | 1 | BeFree |
Leukoplakia | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Lung Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Prostatic Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Cholangiocarcinoma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Rectal Carcinoma | 0.002985861 | 11 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.002985861 | 11 | 0 | BeFree |
Adenoma of large intestine | 0.002909916 | 3 | 0 | BeFree_GAD |
Biliary Tract Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Breast Diseases | 0.00272435 | 1 | 0 | LHGDN |
Gastritis | 0.00272435 | 1 | 0 | LHGDN |
Lymphoproliferative Disorders | 0.00272435 | 1 | 0 | LHGDN |
Cafe-au-Lait Spots | 0.00272435 | 1 | 0 | LHGDN |
Stenosis | 0.00272435 | 1 | 0 | LHGDN |
Genital Neoplasms, Female | 0.002638474 | 2 | 0 | BeFree_GAD |
Chronic Lymphocytic Leukemia | 0.002638474 | 2 | 0 | BeFree_GAD |
Lymphoma, Follicular | 0.002638474 | 2 | 0 | BeFree_GAD |
Meningioma | 0.002638474 | 2 | 0 | BeFree_GAD |
Diffuse Large B-Cell Lymphoma | 0.002638474 | 2 | 0 | BeFree_GAD |
polyps | 0.002442977 | 9 | 0 | BeFree |
Alcoholic Intoxication, Chronic | 0.002367032 | 1 | 0 | GAD |
Gastritis, Atrophic | 0.002367032 | 1 | 0 | GAD |
Liver neoplasms | 0.002367032 | 1 | 0 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Meningeal Neoplasms | 0.002367032 | 1 | 0 | GAD |
Acoustic Neuroma | 0.002367032 | 1 | 0 | GAD |
Rectal Neoplasms | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Helicobacter Infections | 0.002367032 | 1 | 0 | GAD |
Neoplasms, Second Primary | 0.002367032 | 1 | 0 | GAD |
Endometrial Hyperplasia | 0.002171535 | 8 | 0 | BeFree |
Carcinoma of lung | 0.002171535 | 8 | 2 | BeFree |
Skin Neoplasms | 0.001900093 | 7 | 0 | BeFree |
Carcinoma, Transitional Cell | 0.001628651 | 6 | 0 | BeFree |
Ulcerative Colitis | 0.001628651 | 6 | 0 | BeFree |
Tumor Progression | 0.001628651 | 6 | 2 | BeFree |
Pancreatic carcinoma | 0.001628651 | 6 | 1 | BeFree |
Secondary malignant neoplasm of lymph node | 0.001628651 | 6 | 0 | BeFree |
Carcinoma of bladder | 0.001628651 | 6 | 0 | BeFree |
Hereditary Malignant Neoplasm | 0.001628651 | 6 | 0 | BeFree |
Adenocarcinoma of colon | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of gastrointestinal tract | 0.001357209 | 5 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.001357209 | 5 | 0 | BeFree |
Fanconi Anemia | 0.001085767 | 4 | 0 | BeFree |
Acute lymphocytic leukemia | 0.001085767 | 4 | 0 | BeFree |
Sebaceous Adenocarcinoma | 0.001085767 | 4 | 0 | BeFree |
Multiple tumors | 0.001085767 | 4 | 0 | BeFree |
Squamous cell carcinoma of esophagus | 0.001085767 | 4 | 0 | BeFree |
Secondary malignant neoplasm of liver | 0.001085767 | 4 | 0 | BeFree |
Hereditary Breast and Ovarian Cancer Syndrome | 0.001085767 | 4 | 0 | BeFree |
Cancer of Urinary Tract | 0.001085767 | 4 | 0 | BeFree |
Squamous cell carcinoma of the head and neck | 0.001085767 | 4 | 0 | BeFree |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | 0.001085767 | 4 | 0 | BeFree |
Mucinous Adenocarcinoma | 0.000814326 | 3 | 0 | BeFree |
Congenital chromosomal disease | 0.000814326 | 3 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000814326 | 3 | 0 | BeFree |
Melanocytic nevus | 0.000814326 | 3 | 0 | BeFree |
Precancerous Conditions | 0.000814326 | 3 | 0 | BeFree |
Protein Deficiency | 0.000814326 | 3 | 0 | BeFree |
Cervix carcinoma | 0.000814326 | 3 | 0 | BeFree |
Hyperplastic Polyp | 0.000814326 | 3 | 0 | BeFree |
Malignant Fibrous Histiocytoma | 0.000814326 | 3 | 0 | BeFree |
Sebaceous adenoma | 0.000814326 | 3 | 0 | BeFree |
Urothelial Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Malignant tumor of cervix | 0.000542884 | 2 | 0 | BeFree |
Intestinal Neoplasms | 0.000542884 | 2 | 0 | BeFree |
keratoacanthoma | 0.000542884 | 2 | 0 | BeFree |
Adult T-Cell Lymphoma/Leukemia | 0.000542884 | 2 | 0 | BeFree |
Lymphatic Metastasis | 0.000542884 | 2 | 0 | BeFree |
Retinoblastoma | 0.000542884 | 2 | 0 | BeFree |
Sebaceous Gland Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Ichthyosis, X-Linked | 0.000542884 | 2 | 0 | BeFree |
Cutaneous Melanoma | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000542884 | 2 | 0 | BeFree |
Esophageal carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of mouth | 0.000542884 | 2 | 0 | BeFree |
Alveolar Soft Part Sarcoma | 0.000542884 | 2 | 0 | BeFree |
Medullary carcinoma | 0.000542884 | 2 | 0 | BeFree |
Gallbladder Carcinoma | 0.000542884 | 2 | 8 | BeFree |
Cancer of Head and Neck | 0.000542884 | 2 | 0 | BeFree |
Conventional (Clear Cell) Renal Cell Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Tubular adenoma | 0.000542884 | 2 | 0 | BeFree |
Intrahepatic Cholangiocarcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of esophagus | 0.000542884 | 2 | 0 | BeFree |
Malignant Glioma | 0.000542884 | 2 | 0 | BeFree |
invasive cancer | 0.000542884 | 2 | 0 | BeFree |
Skin carcinoma | 0.000542884 | 2 | 0 | BeFree |
Advanced cancer | 0.000542884 | 2 | 0 | BeFree |
Polyp of large intestine | 0.000542884 | 2 | 1 | BeFree |
Invasive Ductal Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Single tumor | 0.000542884 | 2 | 0 | BeFree |
Sporadic Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Epithelioma | 0.000542884 | 2 | 0 | BeFree |
Renal carcinoma | 0.000542884 | 2 | 0 | BeFree |
Glioblastoma Multiforme | 0.000542884 | 2 | 0 | BeFree |
Non-Neoplastic Disorder | 0.000542884 | 2 | 0 | BeFree |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Adrenal Gland Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Tooth Attrition | 0.000271442 | 1 | 0 | BeFree |
Barrett Esophagus | 0.000271442 | 1 | 0 | BeFree |
Bloom Syndrome | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of skin | 0.000271442 | 1 | 0 | BeFree |
Endometriosis | 0.000271442 | 1 | 0 | BeFree |
Fibrosarcoma | 0.000271442 | 1 | 0 | BeFree |
Fragile X Syndrome | 0.000271442 | 1 | 0 | BeFree |
Friedreich Ataxia | 0.000271442 | 1 | 0 | BeFree |
Hematological Disease | 0.000271442 | 1 | 0 | BeFree |
Herpes Simplex Infections | 0.000271442 | 1 | 0 | BeFree |
Ischemia | 0.000271442 | 1 | 0 | BeFree |
Leukemia, T-Cell | 0.000271442 | 1 | 0 | BeFree |
liposarcoma | 0.000271442 | 1 | 0 | BeFree |
Liver Cirrhosis | 0.000271442 | 1 | 0 | BeFree |
Alcoholic Liver Diseases | 0.000271442 | 1 | 0 | BeFree |
Myelodysplasia | 0.000271442 | 1 | 0 | BeFree |
Myotonic Dystrophy | 0.000271442 | 1 | 0 | BeFree |
Degenerative polyarthritis | 0.000271442 | 1 | 0 | BeFree |
Preleukemia | 0.000271442 | 1 | 0 | BeFree |
Kidney Failure | 0.000271442 | 1 | 0 | BeFree |
Seminoma | 0.000271442 | 1 | 0 | BeFree |
Skin lesion | 0.000271442 | 1 | 0 | BeFree |
Soft Tissue Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Thyroid Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Virus Diseases | 0.000271442 | 1 | 0 | BeFree |
B-Cell Lymphomas | 0.000271442 | 1 | 0 | BeFree |
Lymphoma, Large-Cell, Follicular | 0.000271442 | 1 | 1 | BeFree |
Precursor cell lymphoblastic lymphoma | 0.000271442 | 1 | 0 | BeFree |
Central Nervous System Neoplasms | 0.000271442 | 1 | 2 | BeFree |
Acute leukemia | 0.000271442 | 1 | 0 | BeFree |
Emotional Stress | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of rectum | 0.000271442 | 1 | 0 | BeFree |
Atrial myxoma | 0.000271442 | 1 | 0 | BeFree |
Idiopathic pulmonary hypertension | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of gallbladder | 0.000271442 | 1 | 8 | BeFree |
Uterine Cancer | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of testis | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Endometriosis of ovary | 0.000271442 | 1 | 0 | BeFree |
Undifferentiated carcinoma | 0.000271442 | 1 | 0 | BeFree |
Liposarcoma, Pleomorphic | 0.000271442 | 1 | 0 | BeFree |
Sarcoma, Clear Cell | 0.000271442 | 1 | 0 | BeFree |
Adenoma, Villous | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma, Clear Cell | 0.000271442 | 1 | 0 | BeFree |
childhood brain tumor | 0.000271442 | 1 | 0 | BeFree |
Lip and Oral Cavity Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Anaplastic thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Medullary carcinoma of thyroid | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of ampulla of Vater | 0.000271442 | 1 | 0 | BeFree |
Stage II Colon Cancer | 0.000271442 | 1 | 0 | BeFree |
Metastatic melanoma | 0.000271442 | 1 | 0 | BeFree |
Lobular carcinoma in situ of breast | 0.000271442 | 1 | 0 | BeFree |
Solid tumour | 0.000271442 | 1 | 0 | BeFree |
stage, cervical cancer | 0.000271442 | 1 | 0 | BeFree |
Primary central nervous system lymphoma | 0.000271442 | 1 | 0 | BeFree |
Non-infiltrating lobular carcinoma | 0.000271442 | 1 | 0 | BeFree |
Anaplastic Oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 0.000271442 | 1 | 0 | BeFree |
Uterine Corpus Sarcoma | 0.000271442 | 1 | 0 | BeFree |
Breast Cancer, Familial | 0.000271442 | 1 | 0 | BeFree |
Endometrioid carcinoma ovary | 0.000271442 | 1 | 0 | BeFree |
Multiple malignancy | 0.000271442 | 1 | 0 | BeFree |
Atypical Endometrial Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Carney Complex | 0.000271442 | 1 | 0 | BeFree |
Congenital Myotonic Dystrophy | 0.000271442 | 1 | 0 | BeFree |
Recurrent tumor | 0.000271442 | 1 | 0 | BeFree |
Duodenal Cancer | 0.000271442 | 1 | 0 | BeFree |
Ewings sarcoma | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of skin | 0.000271442 | 1 | 0 | BeFree |
Leukemogenesis | 0.000271442 | 1 | 0 | BeFree |
Biliary Tract Cancer | 0.000271442 | 1 | 0 | BeFree |
Familial Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
Cerebral Primitive Neuroectodermal Tumor | 0.000271442 | 1 | 0 | BeFree |
Malignant Squamous Cell Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Stage I Endometrial Carcinoma | 0.000271442 | 1 | 0 | BeFree |
cancer recurrence | 0.000271442 | 1 | 0 | BeFree |
Traditional Serrated Adenoma | 0.000271442 | 1 | 0 | BeFree |
Precursor T-cell lymphoblastic lymphoma | 0.000271442 | 1 | 0 | BeFree |
Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome | 0.000271442 | 1 | 0 | BeFree |
Hereditary Non-Polyposis Colon Cancer Type 2 | 0.000271442 | 1 | 0 | BeFree |
Testicular Germ Cell Tumor | 0.000271442 | 1 | 0 | BeFree |
Treatment related acute myeloid leukaemia | 0.000271442 | 1 | 0 | BeFree |
Rash and Dermatitis Adverse Event Associated with Chemoradiation | 0.000271442 | 1 | 0 | BeFree |
Renal Insufficiency | 0.000271442 | 1 | 0 | BeFree |
Benign Prostatic Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Sporadic Gastric Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
OUABAIN RESISTANCE | 0.000271442 | 1 | 0 | BeFree |
Treatment related leukaemia | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma, familial | 0.000271442 | 1 | 0 | BeFree |
Stage II Colon Cancer AJCC v7 | 0.000271442 | 1 | 0 | BeFree |
Idiopathic pulmonary arterial hypertension | 0.000271442 | 1 | 0 | BeFree |
MUTYH-Associate Polyposis | 0.000271442 | 1 | 0 | BeFree |
Triple Negative Breast Neoplasms | 0.000271442 | 1 | 2 | BeFree |
Sebaceous gland tumors | 0.000271442 | 1 | 0 | BeFree |
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