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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 AlteredExpression group BEFREE We also examined the expression of MLL3 mRNA in 30 breast tumors and their matched normal breast tissues. 21116761 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.350 AlteredExpression disease BEFREE We also analyzed MLL3 expression in GC and CRC tissues using immunohistochemistry. 23259788 2013
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.360 AlteredExpression disease BEFREE We also analyzed MLL3 expression in GC and CRC tissues using immunohistochemistry. 23259788 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE UTX and its protein interactors within the COMPASS family, including the MLL3 and MLL4 lysine methyltransferases, are frequently mutated in multiple human cancers; however, the molecular basis of how these mutations contribute to oncogenesis remains unclear. 30753822 2019
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.030 GeneticVariation disease BEFREE Using RNAi and CRISPR/Cas9 approaches, we show that an ∼50% reduction in gene dosage of the mixed lineage leukemia 3 (MLL3) gene, located on 7q36.1, cooperates with other events occurring in -7/del(7q) AMLs to promote leukemogenesis. 24794707 2014
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.380 Biomarker disease BEFREE Using RNAi and CRISPR/Cas9 approaches, we show that an ∼50% reduction in gene dosage of the mixed lineage leukemia 3 (MLL3) gene, located on 7q36.1, cooperates with other events occurring in -7/del(7q) AMLs to promote leukemogenesis. 24794707 2014
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.380 Biomarker disease BEFREE To evaluate the prognostic impact of gene expression levels (ELs) of two tumor suppressor genes, sprouty 4 (SPRY4, located on 5q) and lysine methyltransferase 2C (KMT2C, located on 7q) in correlation with clinical characteristics and genetic abnormalities assessed at initial diagnosis in acute myeloid leukemia (AML). 28940816 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Thus, our mouse model functionally validates MLL3 as a haploinsufficient 7q tumor suppressor and suggests a therapeutic option for this aggressive disease. 24794707 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE This study provides mechanistic insight into the oncogenic effects of PHD-associated mutations in MLL3 and suggests that restoration of a balanced state of Polycomb-COMPASS activity may have therapeutic efficacy in tumors that bear mutations in the genes encoding these epigenetic factors. 29785026 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE This review provides an overview of this protein family and its relation to cancers, focusing on the recent links between MLL3/KMT2C and MLL2/4/KMT2D and their potential roles as tumor suppressors in an assortment of cell types. 25794446 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.070 GeneticVariation disease BEFREE This comprehensive series of NF1-associated breast cancers suggests that their aggressive features are related to germline NF1 mutations in cooperation with somatic mutations in TP53, KMT2C and other genes. 29926297 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.070 GeneticVariation disease BEFREE These results suggest that mutation of MLL3 plays a role in the development of breast cancer. 21116761 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 GeneticVariation disease BEFREE These results suggest that mutation of MLL3 plays a role in the development of breast cancer. 21116761 2011
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.080 Biomarker phenotype BEFREE These findings, together with an examination of cancer genomics databases provide new insights into the contribution of KMT2C/D proteins in epigenetic gene regulation and links to carcinogenesis. 31128216 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE These findings, together with an examination of cancer genomics databases provide new insights into the contribution of KMT2C/D proteins in epigenetic gene regulation and links to carcinogenesis. 31128216 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 Biomarker group BEFREE These findings, together with an examination of cancer genomics databases provide new insights into the contribution of KMT2C/D proteins in epigenetic gene regulation and links to carcinogenesis. 31128216 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.380 Biomarker disease BEFREE Therefore, we propose that MLL3 loss in patients may contribute to the progression of MDS and AML by promoting myelopoiesis. 27610619 2016
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.020 Biomarker group BEFREE Therefore, we propose that MLL3 loss in patients may contribute to the progression of MDS and AML by promoting myelopoiesis. 27610619 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.350 GeneticVariation disease BEFREE The strongest association with CRC risk and survival was found for MLL3 (rs6464211, OR 1.50, p = 0.002, dominant model; HR 2.12, p = 0.020, recessive model). 24706189 2014
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.360 AlteredExpression disease BEFREE The purpose of this study was to examine the expression of MLL3 in tissue samples of patients with gastric cancer and to analyze the relationship between MLL3 protein expression and clinical records. 25222251 2014
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.040 AlteredExpression disease BEFREE The purpose of this study was to examine the expression of MLL3 in tissue samples of patients with gastric cancer and to analyze the relationship between MLL3 protein expression and clinical records. 25222251 2014
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.360 GeneticVariation disease BEFREE The present study aimed to investigate the association of a missense mutation (S3660L) in the MLL3 gene with gastric cancer risk in a Chinese population. 24965397 2014
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.040 GeneticVariation disease BEFREE The present study aimed to investigate the association of a missense mutation (S3660L) in the MLL3 gene with gastric cancer risk in a Chinese population. 24965397 2014
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome 		0.300 Biomarker disease CTD_human The mutational landscape of cutaneous T cell lymphoma and Sézary syndrome. 26551667 2015
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.300 Biomarker disease CTD_human The mutational landscape of adenoid cystic carcinoma. 23685749 2013