MLH1, mutL homolog 1, 4292

N. diseases: 31; N. variants: 711
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 Biomarker disease CTD_human Germ line hemiallelic methylations of MLH1 or MSH2 are termed as epimutations and have been identified as causative of Lynch syndrome. 25701956 2015
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 GermlineCausalMutation disease ORPHANET Segregation of a novel MLH1 mutation in an Iranian Lynch syndrome family. 26149658 2015
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 Biomarker disease CTD_human A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614 2012
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 GermlineCausalMutation disease ORPHANET We expect to detect the mutation in other LS patients from the region, and recommend cost-effective screening for this mutation by restriction fragment length polymorphism-polymerase chain reaction or DNA sequencing of MLH1 Exon5 prior to full genetic testing in all LS suspects of Macedonian ancestry. 23100212 2012
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 Biomarker disease CTD_human Moreover, an MLH1-NES mutation detected in a patient with Lynch syndrome showed normal MMR activity but led to significantly impaired cytoplasmic transport after actinomycin D treatment. 21064154 2011
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 Biomarker disease CTD_human The hereditary colon and endometrium cancer predisposition Lynch Syndrome (also called HNPCC) is caused by a germ-line mutation in one of the DNA mismatch repair (MMR) genes. 20020535 2010
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 Biomarker disease CTD_human Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. 14756672 2004
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GermlineCausalMutation disease ORPHANET Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm. 25006859 2014
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GermlineCausalMutation disease ORPHANET Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome. 25197397 2014
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CLINGEN Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. 22692065 2013
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GermlineCausalMutation disease ORPHANET Constitutional mismatch repair-deficiency syndrome. 20442441 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 Biomarker disease CTD_human Tumour samples from 73 CRC patients who were treated in advanced stage with either irinotecan alone or in combination with 5-FU/leucovorin, were analysed for expression of Bcl-2, hMLH1 and hMSH2 using immunohistochemistry. 18949393 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 Biomarker disease CTD_human We analyzed sporadic CRCs in Omani (of African origin, N = 61), Iranian (of Caucasian origin, N = 53) and African American (N = 95) patients for microsatellite instability, expression status of mismatched repair genes (hMLH1, hMSH2) and presence of the BRAF (V600E) mutation. 18718023 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 Biomarker disease CTD_human Moreover, a multivariate analysis revealed that hMLH1 mRNA expression was a significant independent prognostic factor for tumor recurrence in CRC patients treated with adjuvant 5-FU. 18497967 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 GeneticVariation disease UNIPROT Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. 18033691 2008
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CLINGEN Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors. 18593904 2008
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CLINGEN Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 17440981 2007
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 17440981 2007
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation disease UNIPROT Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 17440981 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 GeneticVariation disease UNIPROT The new MLH1 variant confers a high risk of CRC and identifies a previously unrecognized mechanism in microsatellite-stable tumors. 15184898 2004
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CLINGEN HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. 15139004 2004
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CLINGEN A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer. 15340263 2004