MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.090 AlteredExpression disease BEFREE Up-regulation of MSH6 is associated with temozolomide resistance in human glioblastoma. 29366782 2018
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.020 Biomarker disease BEFREE Reminiscent of the neoplasms arising in patients with Lynch syndrome III, mice deficient in MSH6 die prematurely of lymphoma. 20934970 2010
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.020 GeneticVariation disease BEFREE Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation. 20015892 2010
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		0.010 GeneticVariation disease BEFREE His brother had died of a medulloblastoma at age 6 years (low MSI, no MSH6 expression).Both boys had cafe-au-lait spots. 17440981 2007
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma 		0.010 AlteredExpression disease BEFREE The second patient was diagnosed with a non-Hodgkin lymphoma (no tissue available) and an anaplastic oligodendroglioma (low MSI; no MSH6 expression) at age 4 years and 6 years, respectively. 17440981 2007
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		0.010 GeneticVariation disease BEFREE These data demonstrate that endogenous MSH6 mutations may be present before alkylator therapy and occur in at least two histologic subtypes of adult glial neoplasms, with this report serving as the first to note these mutations in oligodendroglioma. 25078279 2014
CUI: C3842001
Disease: Adult only
Adult only 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia 		0.020 Biomarker disease BEFREE In this study, we investigated the expression of six human DNA mismatch repair (MMR) genes, human MutS homologues 2 (hMSH2), 3 (hMSH3), and 6 (hMSH6), human MutL homologue 1 (hMLH1), human post-meiotic segregations 1 (hPMS1) and 2 (hPMS2), in primary leukemic cells obtained from 11 patients with acute-type adult T-cell leukemia (ATL) by using reverse transcription-polymerase chain reaction (RT-PCR). 15682421 2005
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia 		0.020 Biomarker disease BEFREE Mutation of the mismatch repair gene hMSH2 and hMSH6 in a human T-cell leukemia line tolerant to methylating agents. 9739019 1998
CUI: C1314691
Disease: Age at menarche
Age at menarche 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASCAT Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. 26414677 2015
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0001816
Disease: Agnosia
Agnosia 		0.100 Biomarker disease HPO
CUI: C0149793
Disease: Amaurosis Fugax
Amaurosis Fugax 		0.100 Biomarker phenotype HPO
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma 		0.020 GeneticVariation disease BEFREE Novel MSH6 mutations in treatment-naïve glioblastoma and anaplastic oligodendroglioma contribute to temozolomide resistance independently of MGMT promoter methylation. 25078279 2014
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma 		0.020 AlteredExpression disease BEFREE The second patient was diagnosed with a non-Hodgkin lymphoma (no tissue available) and an anaplastic oligodendroglioma (low MSI; no MSH6 expression) at age 4 years and 6 years, respectively. 17440981 2007
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.010 GeneticVariation disease BEFREE Although the vast majority of AR mutations appeared capable of increased activation in response to ART-27, an AR mutation identified in prostate cancer (AR P340L) and AIS (AR E2K) show reduced transcriptional responses to ART-27, whereas their response to the p160 class of coactivators was not diminished. 15919721 2005
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.110 Biomarker disease BEFREE We analyzed protein expression and promoter methylation of MLH1, MSH2 and MSH6 as well as microsatellite instability (MSI) and MMR gene mutations in a set of 96 low- and high-grade astrocytomas. 24073290 2013
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.110 Biomarker disease HPO
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 Biomarker disease HPO
CUI: C1305409
Disease: Atypical adenoma
Atypical adenoma 		0.010 Biomarker disease BEFREE In contrast, major differences were noted for mismatch repair protein MSH6 immunostaining: Although MSH6 was diffusely immunopositive in the atypical adenoma, it became immunonegative when the tumor evolved into TMZ-refractory pituitary carcinoma. 21389894 2011
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		0.100 Biomarker phenotype HPO
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		0.010 AlteredExpression disease BEFREE There was a strong positive correlation between MLH1 and PMS2 expression (Spearman ρ 0.97; P<0.001) and between MSH2 and MSH6 expression (Spearman ρ 0.90, P<0.001) in the entire sample and in all BE groups. 29972732 2018
CUI: C0347509
Disease: Benign neoplasm of central nervous system
Benign neoplasm of central nervous system 		0.100 Biomarker group HPO