chr3:36993226:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr3:37,034,717-37,092,387 
hg38 chr3:36,993,226-37,050,896

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
0.009 renal cell carcinoma NA BeFree,GAD,LHGDN Detail
0.031 squamous cell carcinoma The hMLH1 -93G>A promoter polymorphism is associates with outcomes in oral squam... BeFree,GAD,LHGDN 25047469 Detail
0.031 squamous cell carcinoma We examined the influence of MLH1 c.-93G>A, MSH2 c.211 + 9C>G, MSH3 c.3133G>A an... BeFree,GAD,LHGDN 25598504 Detail
0.002 Carcinoma, Transitional Cell NA BeFree Detail
<0.001 celiac disease NA BeFree Detail
<0.001 Malignant tumor of cervix NA BeFree Detail
<0.001 Congenital chromosomal disease NA BeFree Detail
<0.001 colitis NA BeFree Detail
0.012 ulcerative colitis NA BeFree,GAD,LHGDN Detail
0.029 Colonic Neoplasms NA BeFree,GAD,LHGDN Detail
0.003 Colonic Polyps NA BeFree,LHGDN Detail
0.230 Colorectal Neoplasms NA BeFree,CTD_human,GAD,LHGDN Detail
0.240 Hereditary nonpolyposis colorectal neoplasms NA CTD_human,GAD,LHGDN Detail
0.004 Crohn Disease NA BeFree,LHGDN Detail
<0.001 Phyllodes Tumor NA BeFree Detail
0.002 DNA Damage NA GAD Detail
<0.001 Endocrine Gland Neoplasms NA BeFree Detail
0.023 Endometrial Neoplasms NA BeFree,GAD,LHGDN Detail
0.001 endometrial hyperplasia NA BeFree Detail
<0.001 endometriosis NA BeFree Detail
0.003 Esophageal Diseases NA BeFree,LHGDN Detail
0.003 Esophageal Neoplasms NA BeFree,GAD Detail
0.001 Fanconi anemia NA BeFree Detail
<0.001 fragile X syndrome NA BeFree Detail
<0.001 Friedreich ataxia We propose that upregulation of MLH1 or PMS2 could be potential FRDA therapeutic... BeFree 24971578 Detail
0.005 gastritis NA LHGDN Detail
0.002 Gastritis, Atrophic NA GAD Detail
0.008 Gastrointestinal Neoplasms NA BeFree,GAD,LHGDN Detail
0.003 Genital Neoplasms, Female NA BeFree,GAD Detail
0.002 glioblastoma Formerly, we found evidence of prognostic impact of MLH1 and MSH6 immunohistoche... BeFree 24995467 Detail
0.001 Glioma These families all had at least 2 verified glioma cases and a third reported or ... BeFree 24723567 Detail
0.001 Glioma MutL homolog 1 contributes to temozolomide-induced autophagy via ataxia-telangie... BeFree 25646660 Detail
<0.001 granulosa cell tumor NA BeFree Detail
0.003 Head and Neck Neoplasms NA LHGDN Detail
0.003 hepatitis NA LHGDN Detail
<0.001 hepatitis A NA BeFree Detail
<0.001 Herpes Simplex Infections NA BeFree Detail
<0.001 HIV Infections NA BeFree Detail
0.003 Hodgkin Disease NA BeFree,GAD Detail
<0.001 Huntington disease Association at MLH1 and pathway analysis of the full GWA results support a role ... BeFree 26232222 Detail
0.003 Inflammatory Bowel Diseases NA BeFree,GAD Detail
<0.001 insulinoma NA BeFree Detail
<0.001 Intestinal Neoplasms NA BeFree Detail
<0.001 irritable bowel syndrome NA BeFree Detail
<0.001 keratoacanthoma NA BeFree Detail
0.015 leukemia NA BeFree,GAD,LHGDN Detail
0.003 chronic lymphocytic leukemia NA BeFree,LHGDN Detail
<0.001 lymphoid leukemia NA BeFree Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 NA BeFree Detail
0.013 Leukemia, Myelocytic, Acute NA BeFree,GAD,LHGDN Detail
<0.001 Myeloid Leukemia, Chronic NA BeFree Detail
<0.001 Leukemia, Plasma Cell NA BeFree Detail
<0.001 Leukemia, T-Cell NA BeFree Detail
<0.001 Adult T-Cell Lymphoma/Leukemia NA BeFree Detail
0.003 Leukoplakia NA BeFree,LHGDN Detail
<0.001 liposarcoma NA BeFree Detail
<0.001 Alcoholic Liver Diseases NA BeFree Detail
0.002 Chronic Obstructive Airway Disease NA GAD Detail
0.085 Lung Neoplasms NA LHGDN,RGD Detail
<0.001 Lymphatic Metastasis NA BeFree Detail
0.125 lymphoma NA BeFree,CTD_human,LHGDN Detail
0.003 Lymphoma, Follicular The genotype of MLH1 identifies a subgroup of follicular lymphoma patients who d... BeFree,GAD 25596266 Detail
0.025 Malignant neoplasm of stomach Mismatch repair was affected by a mutation of MLH1 in 1 GC and by aberrant methy... BeFree,GAD 24510342 Detail
0.025 Malignant neoplasm of stomach Predictive value of CHFR and MLH1 methylation in human gastric cancer. BeFree,GAD 24748501 Detail
0.025 Malignant neoplasm of stomach TP53 mutation, allelic deletion of the APC gene and nuclear staining of β-cateni... BeFree,GAD 26033320 Detail
0.017 melanoma NA BeFree,GAD,LHGDN Detail
<0.001 Monoclonal Gammopathy of Undetermined Significance NA BeFree Detail
<0.001 multiple myeloma NA BeFree Detail
0.003 mycosis fungoides NA BeFree,LHGDN Detail
<0.001 Myotonic dystrophy NA BeFree Detail
0.125 Neoplasm Metastasis NA BeFree,CTD_human,LHGDN Detail
0.002 Neoplasm Recurrence, Local NA GAD Detail
0.121 Neoplastic Syndromes, Hereditary HNPCC is an autosomal inherited cancer syndrome characterized by germinal and so... BeFree,CLINVAR 25200962 Detail
<0.001 nephroblastoma NA BeFree Detail
0.002 neurofibromatosis 1 NA BeFree Detail
<0.001 oligospermia NA BeFree Detail
0.010 ovarian carcinoma Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MS... BeFree 25238946 Detail
0.010 ovarian carcinoma Pyrosequencing analyses confirmed that SGI-110 caused both global (LINE1) and ge... BeFree 25316809 Detail
0.007 Pancreatic Neoplasm NA GAD Detail
<0.001 plasmacytoma NA BeFree Detail
0.007 Adenomatous Polyposis Coli NA BeFree Detail
0.013 polyps These polyps contain BRAF mutations and are prone to epigenetic methylation that... BeFree,LHGDN 25602793 Detail
0.013 polyps CpG methylation of MLH1 often leads to reduced or lost expression in dysplastic ... BeFree,LHGDN 26030242 Detail
<0.001 Precancerous Conditions NA BeFree Detail
0.125 Prostatic Neoplasms NA CTD_human,LHGDN Detail
0.003 Rectal Neoplasms NA BeFree,GAD Detail
<0.001 retinoblastoma NA BeFree Detail
<0.001 Sandhoff disease NA BeFree Detail
<0.001 seminoma NA BeFree Detail
<0.001 Skin Diseases, Genetic NA BeFree 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
0.012 Malignant neoplasm of urinary bladder We examined the associations between bladder cancer and 7 polymorphisms from 5 g... BeFree 22927776 Detail
0.022 Stomach Neoplasms NA BeFree,GAD,LHGDN Detail
0.003 synovial sarcoma NA LHGDN Detail
0.005 Thyroid Neoplasm NA BeFree,GAD Detail
<0.001 viral hepatitis NA BeFree Detail
0.002 Helicobacter Infections NA GAD Detail
<0.001 Ichthyosis, X-Linked NA BeFree Detail
0.003 B-Cell Lymphomas NA BeFree,LHGDN Detail
0.003 diffuse large B-cell lymphoma NA BeFree,GAD Detail
<0.001 Immunoblastic Large-Cell Lymphoma NA BeFree Detail
0.082 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.160 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.005 Neoplasms, Second Primary NA GAD Detail
<0.001 Polyendocrinopathies, Autoimmune NA BeFree Detail
<0.001 cecum carcinoma NA BeFree Detail
<0.001 Epstein-Barr Virus Infections NA BeFree Detail
<0.001 Squamous cell carcinoma of lung NA BeFree Detail
<0.001 Gastric adenoma NA BeFree Detail
0.001 Cutaneous Melanoma We found an association between the risk of CMM and peripheral blood mononuclear... BeFree 25026000 Detail
<0.001 Adenocarcinoma of lung (disorder) NA BeFree Detail
<0.001 esophageal carcinoma NA BeFree Detail
<0.001 Malignant neoplasm of mouth NA BeFree Detail
<0.001 Malignant neoplasm of gallbladder NA BeFree Detail
<0.001 uterine cancer NA BeFree Detail
<0.001 Malignant neoplasm of testis NA BeFree Detail
<0.001 Secondary malignant neoplasm of lung NA BeFree Detail
<0.001 endometriosis of ovary NA BeFree Detail
<0.001 Aortic Aneurysm, Thoracic NA BeFree Detail
0.003 Tumor Progression NA BeFree Detail
<0.001 Undifferentiated carcinoma NA BeFree Detail
<0.001 Germ cell tumor NA BeFree Detail
0.003 adenomyoma NA LHGDN Detail
<0.001 Sarcoma, Clear Cell NA BeFree Detail
<0.001 alveolar soft part sarcoma NA BeFree Detail
<0.001 Adenoma, Villous NA BeFree Detail
<0.001 Adenomatous Polyps NA BeFree Detail
<0.001 Adenocarcinoma, Clear Cell NA BeFree Detail
0.001 sebaceous adenocarcinoma We report the case of a 52-year-old caucasian woman with the development of meta... BeFree 25197397 Detail
0.001 sebaceous adenocarcinoma Eighteen (56%) of the 32 specimens with SA or SC displayed MMR-protein deficienc... BeFree 25457183 Detail
0.004 Carcinoma, Endometrioid NA BeFree,LHGDN Detail
0.003 Medullary carcinoma NA BeFree,LHGDN Detail
<0.001 Cervical Intraepithelial Neoplasia NA BeFree Detail
<0.001 Lip and oral cavity carcinoma NA BeFree Detail
<0.001 gallbladder carcinoma NA BeFree Detail
0.002 pancreatic carcinoma NA BeFree Detail
<0.001 Gastrointestinal Stromal Tumors NA BeFree Detail
<0.001 Hereditary pancreatitis NA BeFree Detail
<0.001 Papillary thyroid carcinoma NA BeFree Detail
0.001 Multiple tumors NA BeFree Detail
0.492 Turcot syndrome (disorder) Tumor MMR-deficiency was observed for 22 cases [69 %; 95 % confidence interval (... BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT 25117503 Detail
0.492 Turcot syndrome (disorder) This study compared two biomarkers in tumours with mismatch repair deficiency; q... BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT 25280751 Detail
0.492 Turcot syndrome (disorder) Thus, a case with the clinical condition of hereditary non-polyposis colorectal ... BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT 25716099 Detail
0.492 Turcot syndrome (disorder) This study provides statistical evidence that MMR deficiency is correlated with ... BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT 25938433 Detail
<0.001 Stage II Colon Cancer NA BeFree Detail
<0.001 Malignant Childhood Neoplasm NA BeFree Detail
<0.001 Adenocarcinoma of small intestine NA BeFree Detail
<0.001 Metastatic melanoma NA BeFree Detail
<0.001 Cancer of Head and Neck NA BeFree Detail
<0.001 Liver and Intrahepatic Biliary Tract Carcinoma NA BeFree Detail
<0.001 Lobular carcinoma in situ of breast NA BeFree Detail
0.001 Squamous cell carcinoma of esophagus NA BeFree Detail
<0.001 Conventional (Clear Cell) Renal Cell Carcinoma Loss of MLH1 confers resistance to PI3Kβ inhibitors in renal clear cell carcinom... BeFree 25528216 Detail
<0.001 Solid tumour NA BeFree Detail
<0.001 laryngeal squamous cell carcinoma NA BeFree Detail
0.001 cervix carcinoma NA BeFree Detail
0.003 Hyperplastic Polyp NA BeFree Detail
0.014 Multiple polyps NA BeFree Detail
<0.001 tubular adenomas and adenocarcinomas NA BeFree Detail
<0.001 Non-infiltrating lobular carcinoma NA BeFree Detail
<0.001 Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse NA BeFree Detail
0.003 Malignant neoplasm of liver NA BeFree,GAD Detail
<0.001 intrahepatic cholangiocarcinoma NA BeFree Detail
<0.001 Breast Cancer, Familial NA BeFree Detail
<0.001 Endometrioid carcinoma ovary NA BeFree Detail
<0.001 intestinal cancer NA BeFree Detail
0.004 Malignant neoplasm of pancreas NA BeFree,GAD Detail
<0.001 Atypical endometrial hyperplasia NA BeFree Detail
0.012 Malignant neoplasm of prostate Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutatio... BeFree,GAD 25117503 Detail
0.012 Malignant neoplasm of prostate DNA mismatch repair gene MLH1 induces apoptosis in prostate cancer cells. BeFree,GAD 25526032 Detail
0.012 Malignant neoplasm of prostate This study provides statistical evidence that MMR deficiency is correlated with ... BeFree,GAD 25938433 Detail
0.004 Hematologic Neoplasms NA BeFree,LHGDN Detail
<0.001 Congenital Myotonic Dystrophy NA BeFree Detail
0.037 endometrial carcinoma This review shows that BRAF mutations occurs so infrequently in endometrial tumo... BeFree,GAD 23880961 Detail
0.037 endometrial carcinoma Endometrial cancers from 173 patients recruited to the Nanchong Central Hospital... BeFree,GAD 25400828 Detail
0.037 endometrial carcinoma MSI is also observed in about 15 % of sporadic colorectal cancer (CRC), gastric ... BeFree,GAD 25701956 Detail
0.037 endometrial carcinoma Our results suggest that the -93G>A polymorphism of the hMLH1 gene singly and in... BeFree,GAD 25804231 Detail
0.037 endometrial carcinoma Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients Wit... BeFree,GAD 25871621 Detail
<0.001 Secondary malignant neoplasm of liver NA BeFree Detail
<0.001 Recurrent tumor NA BeFree Detail
0.003 Malignant neoplasm of esophagus NA BeFree,GAD Detail
<0.001 Thyroid carcinoma NA BeFree Detail
<0.001 Ewings sarcoma NA BeFree Detail
<0.001 Squamous cell carcinoma of skin NA BeFree Detail
<0.001 Carcinoma of larynx NA BeFree Detail
0.025 Carcinogenesis As one of the most essential components of mismatch repair system, MutL homolog ... BeFree 25986311 Detail
<0.001 Lymphoid neoplasm NA BeFree Detail
0.003 prostate carcinoma Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutatio... BeFree 25117503 Detail
0.003 prostate carcinoma DNA mismatch repair gene MLH1 induces apoptosis in prostate cancer cells. BeFree 25526032 Detail
0.003 prostate carcinoma This study provides statistical evidence that MMR deficiency is correlated with ... BeFree 25938433 Detail
0.001 Hereditary Breast and Ovarian Cancer Syndrome NA BeFree Detail
0.006 Epithelial ovarian cancer MLH1 was methylated in 37.5% and 64.3% EOCs and LMP tumors. BeFree,GAD 25192888 Detail
0.008 breast carcinoma NA BeFree Detail
0.002 Malignant neoplasm of gastrointestinal tract NA BeFree Detail
0.004 Secondary malignant neoplasm of lymph node We reviewed clinicopathological findings (age, gender, tumor size, gross appeara... BeFree 25759539 Detail
0.020 colon carcinoma The most common hereditary colon cancer susceptibility condition, Lynch syndrome... BeFree 24051481 Detail
0.020 colon carcinoma When stratified by tumor location, hMLH1 -93G>A and IVS3-1403A>T were associated... BeFree 24793746 Detail
0.020 colon carcinoma Among all the 32 families with mutations, families with hMSH2 mutation had a hig... BeFree 25216868 Detail
0.020 colon carcinoma A novel deletion in the splice donor site of MLH1 exon 6 in a Japanese colon can... BeFree 26185136 Detail
0.017 stomach carcinoma Mismatch repair was affected by a mutation of MLH1 in 1 GC and by aberrant methy... BeFree 24510342 Detail
0.017 stomach carcinoma Predictive value of CHFR and MLH1 methylation in human gastric cancer. BeFree 24748501 Detail
0.017 stomach carcinoma TP53 mutation, allelic deletion of the APC gene and nuclear staining of β-cateni... BeFree 26033320 Detail
0.002 Carcinoma of bladder NA BeFree Detail
<0.001 Malignant neoplasm of kidney NA BeFree Detail
<0.001 biliary tract cancer NA BeFree Detail
<0.001 Brain Tumor, Primary NA BeFree Detail
<0.001 Cancer of Urinary Tract NA BeFree Detail
<0.001 adult acute lymphocytic leukemia NA BeFree Detail
<0.001 Malignant Squamous Cell Neoplasm NA BeFree Detail
<0.001 Stage I Endometrial Carcinoma NA BeFree Detail
<0.001 Invasive breast carcinoma NA BeFree Detail
<0.001 Advanced cancer NA BeFree Detail
0.133 ovarian neoplasm Only 4 cases (12.5%) that had specific MMR protein loss showed the same type of ... BeFree,CTD_human,LHGDN 25695547 Detail
0.014 Microsatellite Instability NA GAD Detail
<0.001 precancerous lesions NA BeFree Detail
<0.001 Ovarian adenocarcinoma NA BeFree Detail
0.001 Polyp of large intestine NA BeFree Detail
<0.001 Papillomavirus Infections NA BeFree Detail
<0.001 Invasive Ductal Breast Carcinoma NA BeFree Detail
<0.001 Monoclonal Gammapathies NA BeFree Detail
0.015 Malignant neoplasm of ovary Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MS... BeFree,GAD 25238946 Detail
0.015 Malignant neoplasm of ovary Pyrosequencing analyses confirmed that SGI-110 caused both global (LINE1) and ge... BeFree,GAD 25316809 Detail
0.003 Squamous cell carcinoma of the head and neck NA BeFree Detail
0.004 sarcoma NA BeFree,LHGDN Detail
<0.001 Traditional Serrated Adenoma NA BeFree Detail
0.003 Adenoma of large intestine NA BeFree,GAD Detail
<0.001 Adenocarcinoma of large intestine NA BeFree Detail
0.366 Torre-Muir syndrome Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related ... BeFree,CLINVAR,CTD_human,ORPHANET 25197397 Detail
0.002 Hereditary Malignant Neoplasm NA BeFree Detail
<0.001 Grade 3 Colorectal Adenocarcinoma This raises the question whether these morphological subtypes should be maintain... BeFree 25339302 Detail
<0.001 Invasive Carcinoma NA BeFree Detail
<0.001 Opisthorchis Viverrini-Related Cholangiocarcinoma NA BeFree Detail
<0.001 pancreatic ductal adenocarcinoma NA BeFree Detail
<0.001 Primary Carcinoma NA BeFree Detail
<0.001 Sporadic Breast Carcinoma NA BeFree Detail
<0.001 Testicular Germ Cell Tumor NA BeFree Detail
<0.001 renal carcinoma NA BeFree Detail
0.012 Mammary Neoplasms NA BeFree,GAD,LHGDN Detail
<0.001 Low Grade Cervical Squamous Intraepithelial Neoplasia NA BeFree Detail
<0.001 Ductal Breast Carcinoma NA BeFree Detail
<0.001 Rectal Tumors NA BeFree Detail
<0.001 Rash and Dermatitis Adverse Event Associated with Chemoradiation NA BeFree Detail
<0.001 Adenocarcinoma, Endometrioid NA BeFree Detail
<0.001 Benign Prostatic Hyperplasia NA BeFree Detail
0.002 Non-Neoplastic Disorder NA BeFree Detail
0.120 Cafe au lait spots, multiple NA CTD_human Detail
0.014 uterine corpus cancer This review shows that BRAF mutations occurs so infrequently in endometrial tumo... BeFree 23880961 Detail
0.014 uterine corpus cancer Endometrial cancers from 173 patients recruited to the Nanchong Central Hospital... BeFree 25400828 Detail
0.014 uterine corpus cancer MSI is also observed in about 15 % of sporadic colorectal cancer (CRC), gastric ... BeFree 25701956 Detail
0.014 uterine corpus cancer Our results suggest that the -93G>A polymorphism of the hMLH1 gene singly and in... BeFree 25804231 Detail
<0.001 Urothelial Carcinoma NA BeFree Detail
0.005 liver carcinoma NA BeFree,LHGDN Detail
<0.001 Sessile Serrated Adenoma/Polyp The hierarchical tree of this subset of probes revealed two distinct clusters: G... BeFree 24964857 Detail
<0.001 Sessile Serrated Adenoma/Polyp High miR-31 expression, MLH1 methylation and MSI-high status were more frequentl... BeFree 25632919 Detail
<0.001 Sessile Serrated Adenoma/Polyp CpG methylation of MLH1 often leads to reduced or lost expression in dysplastic ... BeFree 26030242 Detail
<0.001 Treatment related leukaemia NA BeFree Detail
0.002 Chronic ulcerative colitis NA GAD Detail
<0.001 Pancreatic carcinoma, familial NA BeFree Detail
<0.001 Prostate cancer, familial NA BeFree Detail
<0.001 Nasopharyngeal carcinoma NA BeFree Detail
<0.001 Pancreatic Intraductal Papillary Mucinous Neoplasm, Gastric-Type NA BeFree Detail
<0.001 Stage II Colon Cancer AJCC v7 NA BeFree Detail
<0.001 Colorectal Serrated Adenocarcinoma NA BeFree Detail
0.001 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) NA BeFree Detail
0.003 Infection NA LHGDN Detail
<0.001 Sebaceous gland tumors NA BeFree Detail
<0.001 Experimental Organism Basal Cell Carcinoma NA BeFree Detail
<0.001 oligospermia One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059... BeFree 22594646 Detail
<0.001 azoospermia One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059... BeFree 22594646 Detail
0.037 adenocarcinoma These polyps contain BRAF mutations and are prone to epigenetic methylation that... BeFree,GAD,LHGDN 25602793 Detail
0.002 papillary adenocarcinoma NA GAD Detail
0.010 adenoma We conclude that hypermethylation of MLH1, when occurs in an adenoma cell with B... BeFree 24964857 Detail
0.010 adenoma In particular, MLH1, ATM and FHIT gene promoters were found to be significantly ... BeFree 25091577 Detail
<0.001 Astrocytoma NA BeFree Detail
<0.001 azoospermia NA BeFree Detail
<0.001 Barrett esophagus NA BeFree Detail
0.012 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
0.003 Bloom syndrome NA LHGDN Detail
0.001 Brain Neoplasms The risk of brain tumors was significantly higher (2.5%) in MSH2 gene mutation c... BeFree 25648859 Detail
0.022 Malignant neoplasm of breast NA BeFree,GAD Detail
<0.001 Carcinoid Tumor NA BeFree Detail
0.024 Malignant tumor of colon The most common hereditary colon cancer susceptibility condition, Lynch syndrome... BeFree 24051481 Detail
0.024 Malignant tumor of colon When stratified by tumor location, hMLH1 -93G>A and IVS3-1403A>T were associated... BeFree 24793746 Detail
0.024 Malignant tumor of colon Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutatio... BeFree 25117503 Detail
0.024 Malignant tumor of colon Among all the 32 families with mutations, families with hMSH2 mutation had a hig... BeFree 25216868 Detail
0.024 Malignant tumor of colon A novel deletion in the splice donor site of MLH1 exon 6 in a Japanese colon can... BeFree 26185136 Detail
0.014 Malignant neoplasm of endometrium This review shows that BRAF mutations occurs so infrequently in endometrial tumo... BeFree 23880961 Detail
0.014 Malignant neoplasm of endometrium Endometrial cancers from 173 patients recruited to the Nanchong Central Hospital... BeFree 25400828 Detail
0.014 Malignant neoplasm of endometrium MSI is also observed in about 15 % of sporadic colorectal cancer (CRC), gastric ... BeFree 25701956 Detail
0.014 Malignant neoplasm of endometrium Our results suggest that the -93G>A polymorphism of the hMLH1 gene singly and in... BeFree 25804231 Detail
<0.001 female breast carcinoma NA BeFree Detail
0.001 Malignant neoplasm of larynx NA BeFree Detail
0.004 Rectal Carcinoma When stratified by tumor location, hMLH1 -93G>A and IVS3-1403A>T were associated... BeFree 24793746 Detail
<0.001 Noninfiltrating Intraductal Carcinoma NA BeFree Detail
0.005 mucinous adenocarcinoma NA BeFree,LHGDN Detail
0.005 Non-small cell lung carcinoma NA BeFree Detail
0.003 Carcinoma, Papillary NA BeFree,GAD Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
The hMLH1 -93G>A promoter polymorphism is associates with outcomes in oral squamous cell carcinoma p... DisGeNET Detail
We examined the influence of MLH1 c.-93G>A, MSH2 c.211 + 9C>G, MSH3 c.3133G>A and EXO1 c.1765G>A pol... DisGeNET Detail
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We propose that upregulation of MLH1 or PMS2 could be potential FRDA therapeutic approaches to incre... DisGeNET Detail
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Formerly, we found evidence of prognostic impact of MLH1 and MSH6 immunohistochemical expression in ... DisGeNET Detail
These families all had at least 2 verified glioma cases and a third reported or verified glioma case... DisGeNET Detail
MutL homolog 1 contributes to temozolomide-induced autophagy via ataxia-telangiectasia mutated in gl... DisGeNET Detail
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Association at MLH1 and pathway analysis of the full GWA results support a role for DNA handling and... DisGeNET Detail
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The genotype of MLH1 identifies a subgroup of follicular lymphoma patients who do not benefit from d... DisGeNET Detail
Mismatch repair was affected by a mutation of MLH1 in 1 GC and by aberrant methylation of MLH1 in 2 ... DisGeNET Detail
Predictive value of CHFR and MLH1 methylation in human gastric cancer. DisGeNET Detail
TP53 mutation, allelic deletion of the APC gene and nuclear staining of β-catenin are frequently det... DisGeNET Detail
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HNPCC is an autosomal inherited cancer syndrome characterized by germinal and somatic mutations of D... DisGeNET Detail
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Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MSH6, or PMS2, associa... DisGeNET Detail
Pyrosequencing analyses confirmed that SGI-110 caused both global (LINE1) and gene-specific hypometh... DisGeNET Detail
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These polyps contain BRAF mutations and are prone to epigenetic methylation that ultimately silences... DisGeNET Detail
CpG methylation of MLH1 often leads to reduced or lost expression in dysplastic foci and carcinomas ... DisGeNET Detail
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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
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Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
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We found an association between the risk of CMM and peripheral blood mononuclear cell methylation le... DisGeNET Detail
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We report the case of a 52-year-old caucasian woman with the development of metachronous colon cance... DisGeNET Detail
Eighteen (56%) of the 32 specimens with SA or SC displayed MMR-protein deficiency, comprising 17 (65... DisGeNET Detail
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Tumor MMR-deficiency was observed for 22 cases [69 %; 95 % confidence interval (CI) 50-83 %], with t... DisGeNET Detail
This study compared two biomarkers in tumours with mismatch repair deficiency; quantification of met... DisGeNET Detail
Thus, a case with the clinical condition of hereditary non-polyposis colorectal cancer as defined by... DisGeNET Detail
This study provides statistical evidence that MMR deficiency is correlated with hypermethylation of ... DisGeNET Detail
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Loss of MLH1 confers resistance to PI3Kβ inhibitors in renal clear cell carcinoma with SETD2 mutatio... DisGeNET Detail
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Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutation carriers (23 MSH2,... DisGeNET Detail
DNA mismatch repair gene MLH1 induces apoptosis in prostate cancer cells. DisGeNET Detail
This study provides statistical evidence that MMR deficiency is correlated with hypermethylation of ... DisGeNET Detail
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This review shows that BRAF mutations occurs so infrequently in endometrial tumours they can be disc... DisGeNET Detail
Endometrial cancers from 173 patients recruited to the Nanchong Central Hospital were tested for MMR... DisGeNET Detail
MSI is also observed in about 15 % of sporadic colorectal cancer (CRC), gastric cancer (GC), and end... DisGeNET Detail
Our results suggest that the -93G>A polymorphism of the hMLH1 gene singly and in combination with th... DisGeNET Detail
Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and End... DisGeNET Detail
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As one of the most essential components of mismatch repair system, MutL homolog 1 (MLH1) plays an in... DisGeNET Detail
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Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutation carriers (23 MSH2,... DisGeNET Detail
DNA mismatch repair gene MLH1 induces apoptosis in prostate cancer cells. DisGeNET Detail
This study provides statistical evidence that MMR deficiency is correlated with hypermethylation of ... DisGeNET Detail
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MLH1 was methylated in 37.5% and 64.3% EOCs and LMP tumors. 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
When stratified by tumor location, hMLH1 -93G>A and IVS3-1403A>T were associated with colon cancer s... DisGeNET Detail
Among all the 32 families with mutations, families with hMSH2 mutation had a higher ratio of synchro... DisGeNET Detail
A novel deletion in the splice donor site of MLH1 exon 6 in a Japanese colon cancer patient with Lyn... DisGeNET Detail
Mismatch repair was affected by a mutation of MLH1 in 1 GC and by aberrant methylation of MLH1 in 2 ... DisGeNET Detail
Predictive value of CHFR and MLH1 methylation in human gastric cancer. DisGeNET Detail
TP53 mutation, allelic deletion of the APC gene and nuclear staining of β-catenin are frequently det... DisGeNET Detail
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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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Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MSH6, or PMS2, associa... DisGeNET Detail
Pyrosequencing analyses confirmed that SGI-110 caused both global (LINE1) and gene-specific hypometh... DisGeNET Detail
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Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome. DisGeNET Detail
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This raises the question whether these morphological subtypes should be maintained or whether an alt... DisGeNET Detail
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This review shows that BRAF mutations occurs so infrequently in endometrial tumours they can be disc... DisGeNET Detail
Endometrial cancers from 173 patients recruited to the Nanchong Central Hospital were tested for MMR... DisGeNET Detail
MSI is also observed in about 15 % of sporadic colorectal cancer (CRC), gastric cancer (GC), and end... DisGeNET Detail
Our results suggest that the -93G>A polymorphism of the hMLH1 gene singly and in combination with th... DisGeNET Detail
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The hierarchical tree of this subset of probes revealed two distinct clusters: Group 1, mostly compo... DisGeNET Detail
High miR-31 expression, MLH1 methylation and MSI-high status were more frequently detected in SSAs f... DisGeNET Detail
CpG methylation of MLH1 often leads to reduced or lost expression in dysplastic foci and carcinomas ... DisGeNET Detail
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One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and ... DisGeNET Detail
One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and ... DisGeNET Detail
These polyps contain BRAF mutations and are prone to epigenetic methylation that ultimately silences... DisGeNET Detail
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We conclude that hypermethylation of MLH1, when occurs in an adenoma cell with BRAF oncogenic mutati... DisGeNET Detail
In particular, MLH1, ATM and FHIT gene promoters were found to be significantly hypermethylated in r... DisGeNET Detail
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The risk of brain tumors was significantly higher (2.5%) in MSH2 gene mutation carriers compared to ... DisGeNET Detail
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The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously kn... DisGeNET Detail
When stratified by tumor location, hMLH1 -93G>A and IVS3-1403A>T were associated with colon cancer s... DisGeNET Detail
Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutation carriers (23 MSH2,... DisGeNET Detail
Among all the 32 families with mutations, families with hMSH2 mutation had a higher ratio of synchro... DisGeNET Detail
A novel deletion in the splice donor site of MLH1 exon 6 in a Japanese colon cancer patient with Lyn... DisGeNET Detail
This review shows that BRAF mutations occurs so infrequently in endometrial tumours they can be disc... DisGeNET Detail
Endometrial cancers from 173 patients recruited to the Nanchong Central Hospital were tested for MMR... DisGeNET Detail
MSI is also observed in about 15 % of sporadic colorectal cancer (CRC), gastric cancer (GC), and end... DisGeNET Detail
Our results suggest that the -93G>A polymorphism of the hMLH1 gene singly and in combination with th... DisGeNET Detail
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When stratified by tumor location, hMLH1 -93G>A and IVS3-1403A>T were associated with colon cancer s... 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
rs1059060 dbSNP
Genome
hg38
Position
chr3:36,993,226-37,050,896
Variant Type
snv
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