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: C0025202
Disease: melanoma
melanoma
0.400 Biomarker disease HPO
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.130 Biomarker group HPO
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.110 Biomarker disease HPO
CUI: C0016689
Disease: Freckles
Freckles
0.100 Biomarker phenotype HPO
CUI: C0027960
Disease: Nevus
Nevus
0.100 Biomarker disease HPO
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.100 Biomarker group HPO
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.100 Biomarker group HPO
CUI: C0151908
Disease: Dry skin
Dry skin
0.100 Biomarker phenotype HPO
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign
0.100 Biomarker phenotype HPO
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE
0.100 Biomarker phenotype HPO
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
0.100 Biomarker phenotype HPO
CUI: C4021976
Disease: Abnormality of the lymphatic system
Abnormality of the lymphatic system
0.100 Biomarker disease HPO
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.400 GeneticVariation group BEFREE Human malignant gliomas (glioblastomas and anaplastic astrocytomas) are the most frequent brain tumors and are associated with a variety of genetic alterations including retinoblastoma (RB) and p53 gene mutations, loss of interferon alpha and beta (IFNA, IFNB) genes and lack of O6-methylguanine-DNA methyltransferase (MGMT) expression. 1501894 1992
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE Human malignant gliomas (glioblastomas and anaplastic astrocytomas) are the most frequent brain tumors and are associated with a variety of genetic alterations including retinoblastoma (RB) and p53 gene mutations, loss of interferon alpha and beta (IFNA, IFNB) genes and lack of O6-methylguanine-DNA methyltransferase (MGMT) expression. 1501894 1992
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 GeneticVariation disease BEFREE Human malignant gliomas (glioblastomas and anaplastic astrocytomas) are the most frequent brain tumors and are associated with a variety of genetic alterations including retinoblastoma (RB) and p53 gene mutations, loss of interferon alpha and beta (IFNA, IFNB) genes and lack of O6-methylguanine-DNA methyltransferase (MGMT) expression. 1501894 1992
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma
0.100 GeneticVariation disease BEFREE Human malignant gliomas (glioblastomas and anaplastic astrocytomas) are the most frequent brain tumors and are associated with a variety of genetic alterations including retinoblastoma (RB) and p53 gene mutations, loss of interferon alpha and beta (IFNA, IFNB) genes and lack of O6-methylguanine-DNA methyltransferase (MGMT) expression. 1501894 1992
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.030 AlteredExpression disease BEFREE The exception was loss of RB mRNA, which may be associated with lack of MGMT mRNA. 1501894 1992
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Because the Mer- phenotype enhances tumor response to such agents, we investigated possible mechanisms involved in regulation of MGMT expression in a panel of Mer+ and Mer- pediatric rhabdomyosarcoma xenograft and cell lines. 1504376 1992
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma
0.020 GeneticVariation disease BEFREE Transfection of Mer+ and Mer- rhabdomyosarcoma cell lines with MGMT gene promoter-CAT constructs yielded similar levels of CAT expression, indicating that Mer- cells possessed the necessary factors to support transcription. 1504376 1992
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.010 GeneticVariation disease BEFREE Transfection of Mer+ and Mer- rhabdomyosarcoma cell lines with MGMT gene promoter-CAT constructs yielded similar levels of CAT expression, indicating that Mer- cells possessed the necessary factors to support transcription. 1504376 1992
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
0.010 GeneticVariation disease BEFREE Transfection of Mer+ and Mer- rhabdomyosarcoma cell lines with MGMT gene promoter-CAT constructs yielded similar levels of CAT expression, indicating that Mer- cells possessed the necessary factors to support transcription. 1504376 1992
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.400 Biomarker group BEFREE Thus the Northern method with MGMT cDNA probe reported here is a practical and reliable method for estimation of cellular resistance to CENUs such as ACNU and for screening the chemotherapeutic response to CENUs of human brain tumors. 1518162 1992
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 AlteredExpression disease BEFREE Human brain tumors that were highly resistant to ACNU, such as glioblastoma Gbl1 and metastatic brain tumor Col1 with SD10 values (microM) of above 100, expressed markedly increased amounts of 0.95 kb MGMT mRNA. 1518162 1992
CUI: C0017638
Disease: Glioma
Glioma
0.400 AlteredExpression disease BEFREE By this method, the expression levels of MGMT mRNA in six human glioma cell lines and 12 human brain tumor tissues from surgical specimens were determined. 1518162 1992
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 AlteredExpression disease BEFREE Human brain tumors that were highly resistant to ACNU, such as glioblastoma Gbl1 and metastatic brain tumor Col1 with SD10 values (microM) of above 100, expressed markedly increased amounts of 0.95 kb MGMT mRNA. 1518162 1992