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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker group GENOMICS_ENGLAND Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. 29069077 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker group BEFREE Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. 29069077 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker group GENOMICS_ENGLAND Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 22726846 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker group HPO
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2
0.400 Biomarker disease GENOMICS_ENGLAND Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. 29276005 2018
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2
0.400 GeneticVariation disease CLINVAR Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. 29069077 2017
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2
0.400 Biomarker disease GENOMICS_ENGLAND Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 22726846 2012
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2
0.400 GeneticVariation disease CLINVAR Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 22726846 2012
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2
0.400 CausalMutation disease CLINVAR
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.380 GeneticVariation disease BEFREE MLL-rearranged acute myeloid leukemia: Influence of the genetic partner in allo-HSCT response and prognostic factor of MLL 3' region mRNA expression. 29384595 2018
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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.380 GeneticVariation disease BEFREE Aberrant DNA methylation of acute myeloid leukemia and colorectal cancer in a Chinese pedigree with a MLL3 germline mutation. 27405564 2016
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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.380 Biomarker disease BEFREE In this issue of Cancer Cell, Chen and colleagues identify MLL3 as a novel haplo-insufficient tumor suppressor on 7q that, in combination with NF1 suppression and TP53 deficiency, mediates MDS and AML phenotypes in mouse and human systems. 24823633 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 CTD_human Interestingly, Mll3-suppressed leukemias, like human -7/del(7q) AMLs, are refractory to conventional chemotherapy but sensitive to the BET inhibitor JQ1. 24794707 2014
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.380 Biomarker disease BEFREE Of our candidate genes, we found that MLL3 was a compound heterozygote in every infant who developed AML and 50% of infants who developed ALL. 24301523 2014
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.380 GeneticVariation disease BEFREE In one case of AML with del(11)(q23), deletion of the MLL 3' region and the region telomeric to the MLL gene was seen. 15350305 2004
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.360 GeneticVariation disease BEFREE Mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) have been found in 47% of GCs. 24744582 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: 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: 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: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.360 GeneticVariation disease BEFREE Our results for the first time provided new insight into susceptibility factors of MLL3 gene variants in carcinogenesis of gastric cancer of the Chinese Han population. 23991983 2013
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.360 AlteredExpression disease BEFREE Frequent mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) also occurred in 47% of the gastric cancers. 22484628 2012
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.360 Biomarker disease CTD_human Frequent mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) also occurred in 47% of the gastric cancers. 22484628 2012