MGMT, O-6-methylguanine-DNA methyltransferase, 4255

N. diseases: 444; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206701
Disease: Cystadenocarcinoma, Serous
Cystadenocarcinoma, Serous 		0.010 GeneticVariation disease BEFREE The aim of this study was to analyse the promoter methylation status of the gene O6-methylguanine-DNA methyltransferase (MGMT) in malignant effusions, with focus on serous carcinoma. 31808217 2020
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		0.010 PosttranslationalModification disease BEFREE The cell-proliferation assay and colony-formation assay were applied to evaluate proliferation ability, while methylation-specific PCR were used to detect the methylation status of the MGMT promoter CpG island in ICC tissues and cells. 31264147 2020
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma 		0.010 PosttranslationalModification disease BEFREE MGMT methylation at all four cytosine-guanine dinucleotide sites examined was detected in only 2/81 (2%) specimens, consisting of a high-grade serous carcinoma with high frequency of methylation, and a breast carcinoma with low methylation frequency. 31808217 2020
CUI: C0018021
Disease: Goiter
Goiter 		0.010 Biomarker phenotype BEFREE The resulting areas under the receiver operating characteristic (ROC) curve were 0.78 for MGMT (d) for PTC versus goiter samples that can represent the overall ability of MGMT (d) methylation status to discriminate between PTC and goiter patients. 31127647 2019
CUI: C0037917
Disease: Spina Bifida Cystica
Spina Bifida Cystica 		0.010 PosttranslationalModification disease BEFREE Bisulfite sequencing polymerase chain reaction for MGMT promoter methylation demonstrated that almost all CpG sites in the MGMT promoter remained unmethylated in both spina bifida aperta rats and normal controls, and there was no significant difference in methylation level between the two groups on either E14 or E18. 30531021 2019
CUI: C0149978
Disease: Adenocarcinoma of rectum
Adenocarcinoma of rectum 		0.010 Biomarker disease BEFREE O6-methylguanine-DNA Methyltransferase Promoter Methylation in Patients with Rectal Adenocarcinoma After Chemoradiotherapy Treatment: Clinical Implications 31199091 2019
CUI: C0206139
Disease: Lichen Planus, Oral
Lichen Planus, Oral 		0.010 GeneticVariation disease BEFREE Genotyping of the C>T allele of rs16906252, predictor of O16-methylguanine-DNA methyltransferase (MGMT) promoter methylation status, in erosive atrophic lesions of oral lichen planus. 31373397 2019
CUI: C0333873
Disease: Squamous intraepithelial lesion
Squamous intraepithelial lesion 		0.010 PosttranslationalModification phenotype BEFREE Associations of MGMT promoter hypermethylation with squamous intraepithelial lesion and cervical carcinoma: A meta-analysis. 31574102 2019
CUI: C0346156
Disease: Benign neoplasm of breast
Benign neoplasm of breast 		0.010 PosttranslationalModification disease BEFREE MGMT promoter methylation was identified in 18.5% of MBT and 0.0% of the BBT (P = 0.01). 30938887 2019
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		0.010 PosttranslationalModification disease BEFREE RPA VI (p = 0.048) and absence of MGMT methylation (p = 0.001) worsened OS significantly. 31054101 2019
CUI: C1337011
Disease: Well Differentiated Pancreatic Endocrine Tumor
Well Differentiated Pancreatic Endocrine Tumor 		0.010 Biomarker disease BEFREE Clinical and in vitro studies of the correlation between MGMT and the effect of streptozocin in pancreatic NET. 30310970 2019
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.010 PosttranslationalModification disease BEFREE RPA VI (p = 0.048) and absence of MGMT methylation (p = 0.001) worsened OS significantly. 31054101 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 Biomarker group BEFREE Immunohistochemical staining was performed against H3K27M, H3K27me3, EZH2, EED, mutant isocitrate dehydrogenase 1 (IDH1), α-thalassemia X-linked intellectual disability (ATRX), p53, O6-methylguanine-DNA methyltransferase (MGMT), and Ki-67 antibodies. 31096221 2019
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.010 Biomarker group BEFREE Promoter hypermethylation of TIMP3 and MGMT was detected in women with CIN recurrence and without CIN recurrence independent of HIV infection with significant difference between groups (p = 0.04 and p = 0.02, respectively). 30218185 2018
CUI: C0026618
Disease: Dental Fluorosis, Acquired
Dental Fluorosis, Acquired 		0.010 AlteredExpression disease BEFREE The mRNA levels of MGMT and MLH1 genes from the patients in fluorosis region were lower than those of a control group, and also showed a positive correlation with the severity of fluorosis. 30262283 2018
CUI: C0034885
Disease: Rectal Neoplasms
Rectal Neoplasms 		0.010 PosttranslationalModification group BEFREE In the present study we aimed to analyze the methylation status of MGMT and ERCC1 promoter regions in blood and tissue of patients with benign and malignant rectal tumors. 29080834 2018
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.010 GeneticVariation disease BEFREE Biopsy results suggested alveolar rhabdomyosarcoma bearing a methylated O6-methylguanine-DNA methyltransferase (MGMT) gene promoter. 28834127 2018
CUI: C0267026
Disease: Actinic cheilitis
Actinic cheilitis 		0.010 Biomarker disease BEFREE MGMT promoter methylation and 1p/19q co-deletion might not be the ideal biomarkers for TMZ treatment in TC/AC patients. 29914531 2018
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.010 GeneticVariation disease BEFREE Biopsy results suggested alveolar rhabdomyosarcoma bearing a methylated O6-methylguanine-DNA methyltransferase (MGMT) gene promoter. 28834127 2018
CUI: C0334299
Disease: Carcinoid tumor no ICD-O subtype
Carcinoid tumor no ICD-O subtype 		0.010 PosttranslationalModification phenotype BEFREE MGMT promoter methylation and 1p/19q co-deletion of surgically resected pulmonary carcinoid and large-cell neuroendocrine carcinoma. 29914531 2018
CUI: C1265996
Disease: Large cell neuroendocrine carcinoma
Large cell neuroendocrine carcinoma 		0.010 PosttranslationalModification disease BEFREE Currently, the status of MGMT promoter methylation and 1p/19q co-deletion in pulmonary carcinoid (PC) and large-cell neuroendocrine carcinoma (LCNEC) is not reported. 29914531 2018
CUI: C1302773
Disease: Low Grade Squamous Intraepithelial Neoplasia
Low Grade Squamous Intraepithelial Neoplasia 		0.010 PosttranslationalModification disease BEFREE For triage of low-grade squamous intraepithelial lesion (LSIL), gene methylation increased specificity from 4.0% of HR-HPV detection to 30.8% of MGMT (χ<sup>2</sup> = 9.873, P = 0.002) and to 50.0% of C13ORF18 (χ<sup>2</sup> = 21.814, P = 0.001). 29664054 2018
CUI: C4330050
Disease: WHO Grade II Glioma
WHO Grade II Glioma 		0.010 PosttranslationalModification disease BEFREE This is the first study, to our knowledge, to validate the prognostic importance of MGMT promoter methylation in patients with grade II glioma treated with combined radiotherapy and temozolomide and highlights its potential prognostic value beyond IDH1/2 mutation status. 29955793 2018
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 Biomarker disease BEFREE In ER negative breast cancer the MGMT promoter is frequently methylated. 30038716 2018
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.010 GeneticVariation disease BEFREE Further investigation is needed to decipher the functional properties of the methyltransferase encoded by MGMT and to understand how alteration of such functions may lead to the development of the most common type of thyroid cancer. 28499365 2017