KMT2C, lysine methyltransferase 2C, 58508

N. diseases: 114; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.320 Biomarker disease CTD_human Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators. 22634756 2012
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma
0.010 GeneticVariation disease BEFREE Whole exome sequencing showed a KMT2C-specific pathogenic mutation among all PAs and PRCCs. 31381885 2019
CUI: C0205650
Disease: Papillary adenoma
Papillary adenoma
0.010 GeneticVariation disease BEFREE Whole exome sequencing showed a KMT2C-specific pathogenic mutation among all PAs and PRCCs. 31381885 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Whole exome sequencing (n=22, with paired tumor/germline DNA) and/or targeted deep sequencing (n=24) showed recurrent mutations of epigenetic modifiers in 74% of cases, involving notably KMT2C (26%), KMT2D (9%), CHD2 (15%) and CREBBP (15%). 31774495 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Whereas KMT2C loss disrupts estrogen-driven proliferation, it conversely promotes tumor outgrowth under hormone-depleted conditions. 29755131 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE We review the most recent evidence on the underlying roles of MLL3/MLL4 and UTX in cancer and highlight key outstanding questions to help drive future research and contribute to our fundamental understanding of cancer and facilitate identification of therapeutic opportunities. 27638352 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE We review the most recent evidence on the underlying roles of MLL3/MLL4 and UTX in cancer and highlight key outstanding questions to help drive future research and contribute to our fundamental understanding of cancer and facilitate identification of therapeutic opportunities. 27638352 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE We propose that cancer-associated mutations in MLL3 and MLL4 exert their properties through the malfunction of Trr/MLL3/MLL4-dependent enhancers. 24656127 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE We propose that cancer-associated mutations in MLL3 and MLL4 exert their properties through the malfunction of Trr/MLL3/MLL4-dependent enhancers. 24656127 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.070 Biomarker disease BEFREE We performed MLL3 chromatin immunoprecipitation sequencing (ChIP-seq) in breast cancer cells, and MLL3 was shown to occupy regions marked by FOXA1 occupancy and H3K4me1 and H3K4me2. 27926873 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 Biomarker disease BEFREE We performed MLL3 chromatin immunoprecipitation sequencing (ChIP-seq) in breast cancer cells, and MLL3 was shown to occupy regions marked by FOXA1 occupancy and H3K4me1 and H3K4me2. 27926873 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 PosttranslationalModification group BEFREE We next studied the two loci separately and found that age and cancer related methylation was solely a property of the pseudogene CpG island and that the MLL3 loci was unmethylated. 21853109 2011
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 PosttranslationalModification group BEFREE We next studied the two loci separately and found that age and cancer related methylation was solely a property of the pseudogene CpG island and that the MLL3 loci was unmethylated. 21853109 2011
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.020 Biomarker disease BEFREE We identify three mosaic missense and likely-gene disrupting mutations in genes previously implicated in ASD (KMT2C, NCKAP1, and MYH10) in probands but none in siblings. 27632392 2016
CUI: C0017638
Disease: Glioma
Glioma
0.010 Biomarker disease BEFREE We identified EZH2, KMT2C, and CHD4 as important genes in glioma in addition to the known gene IDH1/2. 29272522 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 Biomarker disease BEFREE We furthermore identified genes with a significant trend correlating with age in the control (MLL3) or the schizophrenia group (SOX5, CTRL). 24287731 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 AlteredExpression phenotype BEFREE We found that primary osteosarcoma cell lines showed the highest capacity of migration before mRNA KMT2C silencing and the highest capacity of invasion after mRNA KMT2C silencing; on the contrary, osteosarcoma metastatic cell line showed the highest capacity of migration after mRNA KMT2C silencing and the highest capacity of invasion before mRNA KMT2C silencing. 31337554 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE We found that frameshift mutations of MLL3 in both CRC cells and primary tumor that were more common in cases with microsatellite instability. 21853109 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE We find many oncogenes and tumor suppressors among the affected genes that are likely candidates for mediating MLL3/4 tumor suppression function. 30194301 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.070 AlteredExpression disease BEFREE We conclude that KMT2C is a key regulator of ERα activity whose loss uncouples breast cancer proliferation from hormone abundance. 29755131 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 AlteredExpression disease BEFREE We conclude that KMT2C is a key regulator of ERα activity whose loss uncouples breast cancer proliferation from hormone abundance. 29755131 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.350 PosttranslationalModification disease BEFREE We analyzed mutations of coding region and promoter methylation in MLL3 using 126 cases of colorectal cancer. 21853109 2011
Malignant neoplasm of colon and/or rectum
0.020 PosttranslationalModification disease BEFREE We analyzed mutations of coding region and promoter methylation in MLL3 using 126 cases of colorectal cancer. 21853109 2011
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx
0.010 GeneticVariation disease BEFREE We also found that MLL3 rs6943984 and rs4725443 polymorphisms had synergistic effects with smoking or alcohol drinking for the risk of laryngeal cancer. 26818916 2016
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx
0.010 GeneticVariation disease BEFREE We also found that MLL3 rs6943984 and rs4725443 polymorphisms had synergistic effects with smoking or alcohol drinking for the risk of laryngeal cancer. 26818916 2016