chr10:17809348:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr10:17,851,347-18,200,093 
hg38 chr10:17,809,348-17,911,164

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 squamous cell carcinoma NA BeFree Detail
<0.001 Carcinoma, Transitional Cell NA BeFree Detail
<0.001 Malignant tumor of cervix Women with MMR gene mutations were found to have an increased risk of cervical c... BeFree 26077226 Detail
<0.001 Colonic Neoplasms NA BeFree Detail
0.040 colorectal carcinoma Colorectal cancer (CRC) that displays high microsatellite instability (MSI-H) ca... BeFree 23880961 Detail
0.040 colorectal carcinoma The hallmarks of Lynch syndrome (LS) include a positive family history of colore... BeFree 24518836 Detail
0.040 colorectal carcinoma We found that MSI+ and MMR protein-deficient CRCs comprised 6.3% (N = 302) of th... BeFree 25110875 Detail
0.040 colorectal carcinoma Lynch syndrome is the most common form of hereditary colorectal cancer and is ca... BeFree 25133505 Detail
0.040 colorectal carcinoma In Lynch syndrome (LS), a dominantly inherited colorectal cancer disease, more t... BeFree 25345868 Detail
0.040 colorectal carcinoma Overall mutations (pathogenic, likely pathogenic) in MMR genes make the highest ... BeFree 25559809 Detail
0.040 colorectal carcinoma Therefore, we aimed to demonstrate the associations between common variants in t... BeFree 25560462 Detail
0.040 colorectal carcinoma Formalin-fixed paraffin-embedded blocks of CRC tissue samples were analyzed for ... BeFree 25624727 Detail
0.040 colorectal carcinoma To investigate gene mutations and DNA mismatch repair (MMR) protein abnormality ... BeFree 25663779 Detail
0.040 colorectal carcinoma Lynch syndrome (LS) is an inherited disorder caused by a germline mutation in th... BeFree 25745978 Detail
0.040 colorectal carcinoma Lynch syndrome, the most common inherited colorectal cancer syndrome in adults, ... BeFree 25883011 Detail
0.040 colorectal carcinoma Our results provide additional evidence that, for MMR gene mutation carriers, us... BeFree 26109217 Detail
0.004 Colorectal Neoplasms Diagnosed colorectal tumors were microsatellite unstable although immunohistoche... BeFree 25060679 Detail
0.004 Colorectal Neoplasms Colorectal tumors exhibiting defective DNA mismatch repair (MMR-D)/microsatellit... BeFree 25475571 Detail
<0.001 Dermatitis, Atopic NA BeFree Detail
<0.001 Eczema NA BeFree Detail
<0.001 encephalitis Expression of the mannose receptor CD206 in HIV and SIV encephalitis: a phenotyp... BeFree 25146376 Detail
<0.001 Endometrial Neoplasms Loss of expression of at least 1 MMR protein was observed in 17 (53.1%) of the e... BeFree 25695547 Detail
<0.001 endometrial hyperplasia NA BeFree Detail
<0.001 endometriosis NA BeFree Detail
<0.001 Fanconi anemia NA BeFree Detail
<0.001 glioblastoma However, more recent studies reveal that decreased MMR protein levels occur ofte... BeFree 26025730 Detail
0.001 Glioma NA BeFree Detail
<0.001 Hematological Disease Since the beginning of this century, a few reports on autoantibodies to some MMR... BeFree 25619773 Detail
<0.001 hepatitis B NA BeFree Detail
<0.001 hepatitis C Association of MRC-1 and IL-28B with the treatment outcome of hepatitis C: a cas... BeFree 24969847 Detail
<0.001 HIV Infections Expression of the mannose receptor CD206 in HIV and SIV encephalitis: a phenotyp... BeFree 25146376 Detail
<0.001 male infertility NA BeFree Detail
<0.001 Inflammatory Bowel Diseases NA BeFree Detail
<0.001 insulinoma NA BeFree Detail
<0.001 keratoacanthoma NA BeFree Detail
<0.001 leprosy NA BeFree Detail
<0.001 leukemia NA BeFree Detail
<0.001 Leukemia, T-Cell NA BeFree Detail
<0.001 Adult T-Cell Lymphoma/Leukemia NA BeFree Detail
<0.001 Chronic Obstructive Airway Disease NA BeFree Detail
<0.001 lymphoma NA BeFree Detail
<0.001 Lymphoproliferative Disorders NA BeFree Detail
0.003 Malignant neoplasm of stomach NA BeFree Detail
<0.001 measles NA BeFree Detail
0.002 melanoma NA BeFree Detail
<0.001 aseptic meningitis NA BeFree Detail
<0.001 premature menopause NA BeFree Detail
<0.001 multiple myeloma NA BeFree Detail
0.002 mumps NA BeFree Detail
<0.001 Neoplasm Metastasis NA BeFree Detail
0.002 Neoplastic Syndromes, Hereditary HNPCC is an autosomal inherited cancer syndrome characterized by germinal and so... BeFree 25200962 Detail
0.002 neurofibromatosis 1 NA BeFree Detail
<0.001 Degenerative polyarthritis The constitution of synovial macrophage subsets was analysed by immunohistochemi... BeFree 24911520 Detail
<0.001 Degenerative polyarthritis The genome wide significant association of MRC1 with sCOMP levels was found like... BeFree 25057126 Detail
0.005 ovarian carcinoma Clinicopathologic features and the expression pattern of MMR proteins (MLH1, MSH... BeFree 25695547 Detail
<0.001 Pancreatic Neoplasm NA BeFree Detail
<0.001 bullous pemphigoid Comparison of CD163+ CD206+ M2 macrophages in the lesional skin of bullous pemph... BeFree 25401296 Detail
<0.001 pemphigus vulgaris Comparison of CD163+ CD206+ M2 macrophages in the lesional skin of bullous pemph... BeFree 25401296 Detail
<0.001 pneumonia Our results indicate a critical role of CD206-positive pulmonary macrophages in ... BeFree 25447055 Detail
0.001 Adenomatous Polyposis Coli NA BeFree Detail
<0.001 polyps NA BeFree Detail
<0.001 Precancerous Conditions NA BeFree Detail
<0.001 Prostatic Neoplasms NA BeFree Detail
<0.001 Protein Deficiency NA BeFree Detail
<0.001 psoriasis NA BeFree Detail
<0.001 pulmonary fibrosis NA BeFree Detail
<0.001 rubella Single nucleotide polymorphisms/haplotypes associated with multiple rubella-spec... BeFree 26329766 Detail
0.003 sarcoidosis NA BeFree,GAD Detail
<0.001 Sebaceous Gland Neoplasms Clinical variables, including age at diagnosis of SN, clinical diagnostic criter... BeFree 25006859 Detail
<0.001 Sebaceous Gland Neoplasms Given the low prevalence of sebaceous neoplasms in Denmark, immunohistochemistry... BeFree 25457183 Detail
<0.001 Sebaceous Gland Neoplasms Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torr... BeFree 25504677 Detail
<0.001 Skin Neoplasms NA BeFree Detail
0.002 Carcinoma of bladder We examined the associations between bladder cancer and 7 polymorphisms from 5 g... BeFree 22927776 Detail
0.002 Malignant neoplasm of urinary bladder We examined the associations between bladder cancer and 7 polymorphisms from 5 g... BeFree 22927776 Detail
0.003 tuberculosis NA BeFree,LHGDN Detail
<0.001 Tuberculosis, Pulmonary NA BeFree Detail
<0.001 Virus Diseases Expression of the mannose receptor CD206 in HIV and SIV encephalitis: a phenotyp... BeFree 25146376 Detail
<0.001 Central Nervous System Neoplasms NA BeFree Detail
<0.001 Polyendocrinopathies, Autoimmune NA BeFree Detail
<0.001 Idiopathic pulmonary hypertension NA BeFree Detail
<0.001 Malignant neoplasm of mouth NA BeFree Detail
<0.001 uterine cancer NA BeFree Detail
<0.001 Malignant neoplasm of testis NA BeFree Detail
0.120 Dermatitis, Allergic Contact NA CTD_human Detail
<0.001 Agenesis of corpus callosum NA BeFree Detail
0.002 Tumor Progression The inherited mutation in one allele together with an acquired defect in the oth... BeFree 25200962 Detail
<0.001 Sarcoma, Clear Cell NA BeFree Detail
<0.001 Adenomatous Polyps NA BeFree Detail
<0.001 Carcinoma, Endometrioid NA BeFree Detail
<0.001 Neuroendocrine Tumors NA BeFree Detail
<0.001 Lip and oral cavity carcinoma NA BeFree Detail
0.001 pancreatic carcinoma NA BeFree Detail
<0.001 Malignant neoplasm of lung NA BeFree Detail
<0.001 Autoimmune thrombocytopenia NA BeFree Detail
<0.001 Multiple tumors NA BeFree Detail
0.005 Turcot syndrome (disorder) Patients who carry either single allele (LS) or double allele (constitutional mi... BeFree 24051481 Detail
0.005 Turcot syndrome (disorder) Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutatio... BeFree 25117503 Detail
0.005 Turcot syndrome (disorder) Thus, a case with the clinical condition of hereditary non-polyposis colorectal ... BeFree 25716099 Detail
<0.001 Autosomal dominant hereditary disorder NA BeFree Detail
<0.001 Streptococcal lymphadenitis of swine NA BeFree Detail
<0.001 gastric adenocarcinoma We examined the expressions of MMR proteins and ARID1A by immunohistochemistry i... BeFree 25717252 Detail
<0.001 Adenocarcinoma of small intestine NA BeFree Detail
<0.001 Cancer of Head and Neck NA BeFree Detail
<0.001 Squamous cell carcinoma of esophagus NA BeFree Detail
<0.001 Transitional cell carcinoma of bladder NA BeFree Detail
<0.001 Solid tumour NA BeFree Detail
<0.001 stage, cervical cancer NA BeFree Detail
<0.001 Adenocarcinoma of pancreas NA BeFree Detail
<0.001 cervix carcinoma Women with MMR gene mutations were found to have an increased risk of cervical c... BeFree 26077226 Detail
<0.001 Hyperplastic Polyp NA BeFree Detail
0.004 Multiple polyps NA BeFree Detail
<0.001 Insulinoma, malignant NA BeFree Detail
<0.001 Carcinoid tumor no ICD-O subtype NA BeFree Detail
<0.001 Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse NA BeFree Detail
<0.001 Leprosy, Multibacillary However, we found that variants rs692527 (P = 0.022) and rs34856358 (P = 0.022) ... BeFree 22392581 Detail
<0.001 Leprosy, Paucibacillary However, we found that variants rs692527 (P = 0.022) and rs34856358 (P = 0.022) ... BeFree 22392581 Detail
0.001 Malignant neoplasm of pancreas NA BeFree Detail
0.003 Malignant neoplasm of prostate MMR IHC screening of prostate cancers will aid in identifying MMR gene mutation ... BeFree 25117503 Detail
0.003 Malignant neoplasm of prostate Mismatch repair (MMR) enzymes have been shown to be deficient in prostate cancer... BeFree 25526032 Detail
0.001 Hematologic Neoplasms Inheriting biallelic (homozygous) mutations in any of the MMR genes results in a... BeFree 25883011 Detail
<0.001 Immune thrombocytopenic purpura NA BeFree Detail
<0.001 Gastrointestinal symptom NA BeFree Detail
0.015 endometrial carcinoma Determination of the detailed carcinogenic mechanisms will be useful for prevent... BeFree 25131761 Detail
0.015 endometrial carcinoma The immunohistochemistry signature of mismatch repair (MMR) proteins in a multie... BeFree 25272293 Detail
0.015 endometrial carcinoma Recent investigations have revealed DNA mismatch repair (MMR) gene mutations are... BeFree 25310854 Detail
0.015 endometrial carcinoma Role of endometrial cancer abnormal MMR protein in screening Lynch-syndrome fami... BeFree 25400828 Detail
0.015 endometrial carcinoma Lynch syndrome (LS) is an inherited disorder caused by a germline mutation in th... BeFree 25745978 Detail
0.015 endometrial carcinoma We checked the association between EC occurrence and two polymorphisms of MMR ge... BeFree 25804231 Detail
<0.001 Malignant neoplasm of esophagus NA BeFree Detail
0.009 Carcinogenesis Mutations and methylation of MMR genes induce various oncogenic changes that cau... BeFree 25131761 Detail
0.009 Carcinogenesis Recent investigations have revealed DNA mismatch repair (MMR) gene mutations are... BeFree 25310854 Detail
0.009 Carcinogenesis All four genes were expressed equally in normal and neoplastic tissues, so MMR g... BeFree 25678423 Detail
<0.001 Leukemogenesis NA BeFree Detail
0.003 prostate carcinoma MMR IHC screening of prostate cancers will aid in identifying MMR gene mutation ... BeFree 25117503 Detail
0.003 prostate carcinoma Mismatch repair (MMR) enzymes have been shown to be deficient in prostate cancer... BeFree 25526032 Detail
0.001 Epithelial ovarian cancer The purpose of the study was to determine the relationship between microsatellit... BeFree 25192888 Detail
<0.001 Sentinel node (disorder) γ-Tilmanocept, a New Radiopharmaceutical Tracer for Cancer Sentinel Lymph Nodes,... BeFree 26202986 Detail
0.004 breast carcinoma NA BeFree Detail
<0.001 Carcinoma of lung NA BeFree Detail
<0.001 Secondary malignant neoplasm of lymph node We reviewed clinicopathological findings (age, gender, tumor size, gross appeara... BeFree 25759539 Detail
0.007 colon carcinoma The most common hereditary colon cancer susceptibility condition, Lynch syndrome... BeFree 24051481 Detail
0.007 colon carcinoma We included 1858 participants in the Colon Cancer Family Registry who had been f... BeFree 26109217 Detail
0.003 stomach carcinoma NA BeFree Detail
0.002 Carcinoma of bladder NA BeFree Detail
<0.001 Malignant Female Reproductive System Neoplasm Carriers of germline mutations in DNA mismatch repair (MMR) genes are at increas... BeFree 26077226 Detail
<0.001 skin carcinoma NA BeFree Detail
<0.001 Severe chronic obstructive pulmonary disease NA BeFree Detail
<0.001 Idiopathic Inflammatory Myopathies This review charts the functional structures of MMREs, their genetic defects and... BeFree 25619773 Detail
0.003 Pneumocystis Infections NA LHGDN Detail
<0.001 Pancreatic carcinoma resectable NA BeFree Detail
<0.001 Testicular malignant germ cell tumor NA BeFree Detail
0.001 ovarian neoplasm The loss of immunoexpression of MMR genes was not seen in ovarian tumors. BeFree 25192888 Detail
0.001 ovarian neoplasm Only 4 cases (12.5%) that had specific MMR protein loss showed the same type of ... BeFree 25695547 Detail
<0.001 Colorectal cancer metastatic NA BeFree Detail
0.004 Malignant neoplasm of ovary Clinicopathologic features and the expression pattern of MMR proteins (MLH1, MSH... BeFree 25695547 Detail
<0.001 Squamous cell carcinoma of the head and neck NA BeFree Detail
<0.001 sarcoma NA BeFree Detail
0.003 Torre-Muir syndrome Clinical variables, including age at diagnosis of SN, clinical diagnostic criter... BeFree 25006859 Detail
0.003 Torre-Muir syndrome Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torr... BeFree 25504677 Detail
0.001 Hereditary Malignant Neoplasm NA BeFree Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer Patients who carry either single allele (LS) or double allele (constitutional mi... BeFree 24051481 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer These reports show that the clinical expression of biallelic MMR mutations depen... BeFree 24068316 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer The hallmarks of Lynch syndrome (LS) include a positive family history of colore... BeFree 24518836 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer Clinical variables, including age at diagnosis of SN, clinical diagnostic criter... BeFree 25006859 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer Lynch syndrome (LS) is an autosomal dominant cancer-susceptibility disease cause... BeFree 25060679 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer Mono-allelic germline mutations in DNA mismatch repair (MMR) genes lead to Lynch... BeFree 25173403 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer In Lynch syndrome (LS), a dominantly inherited colorectal cancer disease, more t... BeFree 25345868 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer Role of endometrial cancer abnormal MMR protein in screening Lynch-syndrome fami... BeFree 25400828 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer In order to identify MMR genes causing LS in India, we analyzed MSI and determin... BeFree 25420488 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer In order to obtain further insights on the phenotypic characteristics of MLH1 ep... BeFree 25437057 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer The identification of MMR-D/MSI-H may impact CRC prognosis, prediction of respon... BeFree 25475571 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer In a number of families with colorectal adenomatous polyposis or suspected Lynch... BeFree 25529843 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer In addition, although these tumors are recommended for either immunohistochemist... BeFree 25695547 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer Lynch syndrome (LS) is an inherited disorder caused by a germline mutation in th... BeFree 25745978 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer Carriers of germline mutations in DNA mismatch repair (MMR) genes are at increas... BeFree 26077226 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer Although heterogenous MSH6 loss provides evidence against germline MSH6 mutation... BeFree 26099011 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer Patients with bi-allelic germline mutations in mismatch repair (MMR) genes (MLH1... BeFree 26116798 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer Lynch syndrome is an autosomal dominant disorder caused by germline mutations in... BeFree 26149658 Detail
<0.001 Sporadic Breast Carcinoma NA BeFree Detail
<0.001 Testicular Germ Cell Tumor NA BeFree Detail
<0.001 Thymic Lymphoma NA BeFree Detail
<0.001 Mammary Neoplasms NA BeFree Detail
<0.001 Autism Spectrum Disorders MMR coverage and autism disorder or autism spectrum disorder prevalence data for... BeFree 26103708 Detail
<0.001 Hepatocarcinogenesis NA BeFree Detail
<0.001 Turcot Syndrome Type 1 NA BeFree Detail
0.041 colorectal cancer Colorectal cancer (CRC) that displays high microsatellite instability (MSI-H) ca... BeFree,GAD 23880961 Detail
0.041 colorectal cancer The hallmarks of Lynch syndrome (LS) include a positive family history of colore... BeFree,GAD 24518836 Detail
0.041 colorectal cancer We found that MSI+ and MMR protein-deficient CRCs comprised 6.3% (N = 302) of th... BeFree,GAD 25110875 Detail
0.041 colorectal cancer Lynch syndrome is the most common form of hereditary colorectal cancer and is ca... BeFree,GAD 25133505 Detail
0.041 colorectal cancer In Lynch syndrome (LS), a dominantly inherited colorectal cancer disease, more t... BeFree,GAD 25345868 Detail
0.041 colorectal cancer Overall mutations (pathogenic, likely pathogenic) in MMR genes make the highest ... BeFree,GAD 25559809 Detail
0.041 colorectal cancer Therefore, we aimed to demonstrate the associations between common variants in t... BeFree,GAD 25560462 Detail
0.041 colorectal cancer Formalin-fixed paraffin-embedded blocks of CRC tissue samples were analyzed for ... BeFree,GAD 25624727 Detail
0.041 colorectal cancer Lynch syndrome (LS) is an inherited disorder caused by a germline mutation in th... BeFree,GAD 25745978 Detail
0.041 colorectal cancer Lynch syndrome, the most common inherited colorectal cancer syndrome in adults, ... BeFree,GAD 25883011 Detail
0.041 colorectal cancer Our results provide additional evidence that, for MMR gene mutation carriers, us... BeFree,GAD 26109217 Detail
<0.001 Leprosy, Multibacillary NA BeFree Detail
<0.001 Leprosy, Paucibacillary NA BeFree Detail
<0.001 tumor vasculature TAMs were the predominant cells expressing immunoreactive CXCR4 in chemotherapy-... BeFree 26269531 Detail
<0.001 hereditary diffuse gastric cancer NA BeFree Detail
<0.001 Developmental regression NA BeFree Detail
<0.001 Cafe au lait spots, multiple NA BeFree Detail
0.010 uterine corpus cancer Determination of the detailed carcinogenic mechanisms will be useful for prevent... BeFree 25131761 Detail
0.010 uterine corpus cancer Recent investigations have revealed DNA mismatch repair (MMR) gene mutations are... BeFree 25310854 Detail
0.010 uterine corpus cancer Role of endometrial cancer abnormal MMR protein in screening Lynch-syndrome fami... BeFree 25400828 Detail
0.010 uterine corpus cancer Lynch syndrome (LS) is an inherited disorder caused by a germline mutation in th... BeFree 25745978 Detail
0.010 uterine corpus cancer We checked the association between EC occurrence and two polymorphisms of MMR ge... BeFree 25804231 Detail
<0.001 liver carcinoma NA BeFree Detail
<0.001 Pulmonary arterial hypertension NA BeFree Detail
<0.001 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) NA BeFree Detail
<0.001 Serrated adenocarcinoma NA BeFree Detail
<0.001 Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia NA BeFree Detail
<0.001 Experimental Organism Basal Cell Carcinoma NA BeFree Detail
0.001 adenocarcinoma NA BeFree Detail
0.002 adenoma NA BeFree Detail
<0.001 arthritis NA BeFree Detail
<0.001 rheumatoid arthritis NA BeFree Detail
0.003 asthma NA BeFree,GAD Detail
<0.001 Astrocytoma NA BeFree Detail
<0.001 autistic disorder MMR coverage and autism disorder or autism spectrum disorder prevalence data for... BeFree 26103708 Detail
<0.001 Autoimmune Diseases This review charts the functional structures of MMREs, their genetic defects and... BeFree 25619773 Detail
0.002 Malignant neoplasm of urinary bladder NA BeFree Detail
<0.001 Bladder Neoplasm NA BeFree Detail
<0.001 Brain Neoplasms Biallelic MMR gene mutations were linked to brain tumor development in childhood... BeFree 25648859 Detail
0.004 Malignant neoplasm of breast NA BeFree Detail
<0.001 Carcinoid Tumor NA BeFree Detail
0.010 Malignant tumor of colon The most common hereditary colon cancer susceptibility condition, Lynch syndrome... BeFree 24051481 Detail
0.010 Malignant tumor of colon Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutatio... BeFree 25117503 Detail
0.010 Malignant tumor of colon We included 1858 participants in the Colon Cancer Family Registry who had been f... BeFree 26109217 Detail
0.010 Malignant neoplasm of endometrium Determination of the detailed carcinogenic mechanisms will be useful for prevent... BeFree 25131761 Detail
0.010 Malignant neoplasm of endometrium Recent investigations have revealed DNA mismatch repair (MMR) gene mutations are... BeFree 25310854 Detail
0.010 Malignant neoplasm of endometrium Role of endometrial cancer abnormal MMR protein in screening Lynch-syndrome fami... BeFree 25400828 Detail
0.010 Malignant neoplasm of endometrium Lynch syndrome (LS) is an inherited disorder caused by a germline mutation in th... BeFree 25745978 Detail
0.010 Malignant neoplasm of endometrium We checked the association between EC occurrence and two polymorphisms of MMR ge... BeFree 25804231 Detail
<0.001 Rectal Carcinoma NA BeFree Detail
<0.001 Malignant neoplasm of skin NA BeFree Detail
<0.001 mucinous adenocarcinoma NA BeFree Detail
<0.001 Non-small cell lung carcinoma NA BeFree Detail
<0.001 renal cell carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
Women with MMR gene mutations were found to have an increased risk of cervical cancer. DisGeNET Detail
NA DisGeNET Detail
Colorectal cancer (CRC) that displays high microsatellite instability (MSI-H) can be caused by eithe... DisGeNET Detail
The hallmarks of Lynch syndrome (LS) include a positive family history of colorectal cancer (CRC), g... DisGeNET Detail
We found that MSI+ and MMR protein-deficient CRCs comprised 6.3% (N = 302) of this cohort. DisGeNET Detail
Lynch syndrome is the most common form of hereditary colorectal cancer and is caused by germline mut... DisGeNET Detail
In Lynch syndrome (LS), a dominantly inherited colorectal cancer disease, more than 50 founder patho... DisGeNET Detail
Overall mutations (pathogenic, likely pathogenic) in MMR genes make the highest contribution to fami... DisGeNET Detail
Therefore, we aimed to demonstrate the associations between common variants in two MMR genes (hMLH1 ... DisGeNET Detail
Formalin-fixed paraffin-embedded blocks of CRC tissue samples were analyzed for dMMR by detection of... DisGeNET Detail
To investigate gene mutations and DNA mismatch repair (MMR) protein abnormality in Chinese colorecta... DisGeNET Detail
Lynch syndrome (LS) is an inherited disorder caused by a germline mutation in the DNA mismatch repai... DisGeNET Detail
Lynch syndrome, the most common inherited colorectal cancer syndrome in adults, is an autosomal domi... DisGeNET Detail
Our results provide additional evidence that, for MMR gene mutation carriers, use of aspirin and ibu... DisGeNET Detail
Diagnosed colorectal tumors were microsatellite unstable although immunohistochemical staining revea... DisGeNET Detail
Colorectal tumors exhibiting defective DNA mismatch repair (MMR-D)/microsatellite instability (MSI-H... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Expression of the mannose receptor CD206 in HIV and SIV encephalitis: a phenotypic switch of brain p... DisGeNET Detail
Loss of expression of at least 1 MMR protein was observed in 17 (53.1%) of the endometrial tumors an... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
However, more recent studies reveal that decreased MMR protein levels occur often in recurrent GBM. DisGeNET Detail
NA DisGeNET Detail
Since the beginning of this century, a few reports on autoantibodies to some MMREs have been reporte... DisGeNET Detail
NA DisGeNET Detail
Association of MRC-1 and IL-28B with the treatment outcome of hepatitis C: a case control study. DisGeNET Detail
Expression of the mannose receptor CD206 in HIV and SIV encephalitis: a phenotypic switch of brain p... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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HNPCC is an autosomal inherited cancer syndrome characterized by germinal and somatic mutations of D... DisGeNET Detail
NA DisGeNET Detail
The constitution of synovial macrophage subsets was analysed by immunohistochemical staining of huma... DisGeNET Detail
The genome wide significant association of MRC1 with sCOMP levels was found likely to act independen... DisGeNET Detail
Clinicopathologic features and the expression pattern of MMR proteins (MLH1, MSH2, and MSH6) were ch... DisGeNET Detail
NA DisGeNET Detail
Comparison of CD163+ CD206+ M2 macrophages in the lesional skin of bullous pemphigoid and pemphigus ... DisGeNET Detail
Comparison of CD163+ CD206+ M2 macrophages in the lesional skin of bullous pemphigoid and pemphigus ... DisGeNET Detail
Our results indicate a critical role of CD206-positive pulmonary macrophages in triggering inflammat... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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Single nucleotide polymorphisms/haplotypes associated with multiple rubella-specific immune response... DisGeNET Detail
NA DisGeNET Detail
Clinical variables, including age at diagnosis of SN, clinical diagnostic criteria for LS and Muir-T... DisGeNET Detail
Given the low prevalence of sebaceous neoplasms in Denmark, immunohistochemistry for the four MMR-pr... DisGeNET Detail
Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torre syndrome-like pati... DisGeNET Detail
NA DisGeNET Detail
We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the... DisGeNET Detail
We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Expression of the mannose receptor CD206 in HIV and SIV encephalitis: a phenotypic switch of brain p... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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The inherited mutation in one allele together with an acquired defect in the other allele of an MMR ... DisGeNET Detail
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Patients who carry either single allele (LS) or double allele (constitutional mismatch repair defici... DisGeNET Detail
Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutation carriers (23 MSH2,... DisGeNET Detail
Thus, a case with the clinical condition of hereditary non-polyposis colorectal cancer as defined by... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We examined the expressions of MMR proteins and ARID1A by immunohistochemistry in consecutive 489 pr... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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Women with MMR gene mutations were found to have an increased risk of cervical cancer. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
However, we found that variants rs692527 (P = 0.022) and rs34856358 (P = 0.022) of the MRC1 gene wer... DisGeNET Detail
However, we found that variants rs692527 (P = 0.022) and rs34856358 (P = 0.022) of the MRC1 gene wer... DisGeNET Detail
NA DisGeNET Detail
MMR IHC screening of prostate cancers will aid in identifying MMR gene mutation carriers. DisGeNET Detail
Mismatch repair (MMR) enzymes have been shown to be deficient in prostate cancer (PCa). DisGeNET Detail
Inheriting biallelic (homozygous) mutations in any of the MMR genes results in a different clinical ... DisGeNET Detail
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Determination of the detailed carcinogenic mechanisms will be useful for prevention and diagnosis of... DisGeNET Detail
The immunohistochemistry signature of mismatch repair (MMR) proteins in a multiethnic Asian cohort w... DisGeNET Detail
Recent investigations have revealed DNA mismatch repair (MMR) gene mutations are closely related wit... DisGeNET Detail
Role of endometrial cancer abnormal MMR protein in screening Lynch-syndrome families. DisGeNET Detail
Lynch syndrome (LS) is an inherited disorder caused by a germline mutation in the DNA mismatch repai... DisGeNET Detail
We checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G>A (rs49... DisGeNET Detail
NA DisGeNET Detail
Mutations and methylation of MMR genes induce various oncogenic changes that cause carcinogenesis, a... DisGeNET Detail
Recent investigations have revealed DNA mismatch repair (MMR) gene mutations are closely related wit... DisGeNET Detail
All four genes were expressed equally in normal and neoplastic tissues, so MMR gene inactivation cou... DisGeNET Detail
NA DisGeNET Detail
MMR IHC screening of prostate cancers will aid in identifying MMR gene mutation carriers. DisGeNET Detail
Mismatch repair (MMR) enzymes have been shown to be deficient in prostate cancer (PCa). DisGeNET Detail
The purpose of the study was to determine the relationship between microsatellite instability (MSI),... DisGeNET Detail
γ-Tilmanocept, a New Radiopharmaceutical Tracer for Cancer Sentinel Lymph Nodes, Binds to the Mannos... DisGeNET Detail
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We reviewed clinicopathological findings (age, gender, tumor size, gross appearance, histological mo... DisGeNET Detail
The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously kn... DisGeNET Detail
We included 1858 participants in the Colon Cancer Family Registry who had been found to have a patho... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Carriers of germline mutations in DNA mismatch repair (MMR) genes are at increased risk of several c... DisGeNET Detail
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NA DisGeNET Detail
This review charts the functional structures of MMREs, their genetic defects and associated disorder... DisGeNET Detail
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The loss of immunoexpression of MMR genes was not seen in ovarian tumors. DisGeNET Detail
Only 4 cases (12.5%) that had specific MMR protein loss showed the same type of loss for both endome... DisGeNET Detail
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Clinicopathologic features and the expression pattern of MMR proteins (MLH1, MSH2, and MSH6) were ch... DisGeNET Detail
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Clinical variables, including age at diagnosis of SN, clinical diagnostic criteria for LS and Muir-T... DisGeNET Detail
Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torre syndrome-like pati... DisGeNET Detail
NA DisGeNET Detail
Patients who carry either single allele (LS) or double allele (constitutional mismatch repair defici... DisGeNET Detail
These reports show that the clinical expression of biallelic MMR mutations depends on the biological... DisGeNET Detail
The hallmarks of Lynch syndrome (LS) include a positive family history of colorectal cancer (CRC), g... DisGeNET Detail
Clinical variables, including age at diagnosis of SN, clinical diagnostic criteria for LS and Muir-T... DisGeNET Detail
Lynch syndrome (LS) is an autosomal dominant cancer-susceptibility disease caused by inactivating ge... DisGeNET Detail
Mono-allelic germline mutations in DNA mismatch repair (MMR) genes lead to Lynch syndrome (LS). DisGeNET Detail
In Lynch syndrome (LS), a dominantly inherited colorectal cancer disease, more than 50 founder patho... DisGeNET Detail
Role of endometrial cancer abnormal MMR protein in screening Lynch-syndrome families. DisGeNET Detail
In order to identify MMR genes causing LS in India, we analyzed MSI and determined expression status... DisGeNET Detail
In order to obtain further insights on the phenotypic characteristics of MLH1 epimutation carriers, ... DisGeNET Detail
The identification of MMR-D/MSI-H may impact CRC prognosis, prediction of response to chemotherapeut... DisGeNET Detail
In a number of families with colorectal adenomatous polyposis or suspected Lynch syndrome/HNPCC, no ... DisGeNET Detail
In addition, although these tumors are recommended for either immunohistochemistry for DNA mismatch ... DisGeNET Detail
Lynch syndrome (LS) is an inherited disorder caused by a germline mutation in the DNA mismatch repai... DisGeNET Detail
Carriers of germline mutations in DNA mismatch repair (MMR) genes are at increased risk of several c... DisGeNET Detail
Although heterogenous MSH6 loss provides evidence against germline MSH6 mutation, patients whose tum... DisGeNET Detail
Patients with bi-allelic germline mutations in mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS... DisGeNET Detail
Lynch syndrome is an autosomal dominant disorder caused by germline mutations in mismatch repair (MM... DisGeNET Detail
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MMR coverage and autism disorder or autism spectrum disorder prevalence data for Norway, Sweden and ... DisGeNET Detail
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NA DisGeNET Detail
Colorectal cancer (CRC) that displays high microsatellite instability (MSI-H) can be caused by eithe... DisGeNET Detail
The hallmarks of Lynch syndrome (LS) include a positive family history of colorectal cancer (CRC), g... DisGeNET Detail
We found that MSI+ and MMR protein-deficient CRCs comprised 6.3% (N = 302) of this cohort. DisGeNET Detail
Lynch syndrome is the most common form of hereditary colorectal cancer and is caused by germline mut... DisGeNET Detail
In Lynch syndrome (LS), a dominantly inherited colorectal cancer disease, more than 50 founder patho... DisGeNET Detail
Overall mutations (pathogenic, likely pathogenic) in MMR genes make the highest contribution to fami... DisGeNET Detail
Therefore, we aimed to demonstrate the associations between common variants in two MMR genes (hMLH1 ... DisGeNET Detail
Formalin-fixed paraffin-embedded blocks of CRC tissue samples were analyzed for dMMR by detection of... DisGeNET Detail
Lynch syndrome (LS) is an inherited disorder caused by a germline mutation in the DNA mismatch repai... DisGeNET Detail
Lynch syndrome, the most common inherited colorectal cancer syndrome in adults, is an autosomal domi... DisGeNET Detail
Our results provide additional evidence that, for MMR gene mutation carriers, use of aspirin and ibu... DisGeNET Detail
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TAMs were the predominant cells expressing immunoreactive CXCR4 in chemotherapy-treated mouse tumors... DisGeNET Detail
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Determination of the detailed carcinogenic mechanisms will be useful for prevention and diagnosis of... DisGeNET Detail
Recent investigations have revealed DNA mismatch repair (MMR) gene mutations are closely related wit... DisGeNET Detail
Role of endometrial cancer abnormal MMR protein in screening Lynch-syndrome families. DisGeNET Detail
Lynch syndrome (LS) is an inherited disorder caused by a germline mutation in the DNA mismatch repai... DisGeNET Detail
We checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G>A (rs49... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
MMR coverage and autism disorder or autism spectrum disorder prevalence data for Norway, Sweden and ... DisGeNET Detail
This review charts the functional structures of MMREs, their genetic defects and associated disorder... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Biallelic MMR gene mutations were linked to brain tumor development in childhood. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously kn... DisGeNET Detail
Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutation carriers (23 MSH2,... DisGeNET Detail
We included 1858 participants in the Colon Cancer Family Registry who had been found to have a patho... DisGeNET Detail
Determination of the detailed carcinogenic mechanisms will be useful for prevention and diagnosis of... DisGeNET Detail
Recent investigations have revealed DNA mismatch repair (MMR) gene mutations are closely related wit... DisGeNET Detail
Role of endometrial cancer abnormal MMR protein in screening Lynch-syndrome families. DisGeNET Detail
Lynch syndrome (LS) is an inherited disorder caused by a germline mutation in the DNA mismatch repai... DisGeNET Detail
We checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G>A (rs49... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs34856358 dbSNP
Genome
hg38
Position
chr10:17,809,348-17,911,164
Variant Type
snv
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