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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.350 GeneticVariation disease BEFREE Segregation analysis performed on four relatives from one family suggested the involvement of GALNT11 and KMT2C in those at risk of developing CRC. 26620301 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.350 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: 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: 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: 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
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.350 GeneticVariation disease UNIPROT