KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.360 GeneticVariation disease BEFREE High-throughput short-read sequencing of exomes and whole cancer genomes in multiple human hepatocellular carcinoma (HCC) cohorts confirmed previously identified frequently mutated somatic genes, such as TP53, CTNNB1 and AXIN1, and identified several novel genes with moderate mutation frequencies, including ARID1A, ARID2, MLL, MLL2, MLL3, MLL4, IRF2, ATM, CDKN2A, FGF19, PIK3CA, RPS6KA3, JAK1, KEAP1, NFE2L2, C16orf62, LEPR, RAC2, and IL6ST. 24379610 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.360 Biomarker disease BEFREE In addition, the hotspots of recurrent integrations of HBV-DNA into host chromosomes such as hTERT, PDGF receptor, MLL are involved in pathogenesis of hepatocellular carcinoma (HCC). 25475418 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.360 Biomarker disease BEFREE In comparison, almost all redoxins were upregulated in CRC liver metastases, with Trx1 and Grx3 being significantly more increased in the CRC liver metastases than in the primary HCC tumors. 25004829 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.360 GeneticVariation disease BEFREE Integration of hepatitis B virus DNA into the myeloid/lymphoid or mixed-lineage leukemia (MLL4) gene and rearrangements of MLL4 in human hepatocellular carcinoma. 18320596 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.360 GeneticVariation disease BEFREE The NFE2L2-KEAP1 and MLL pathways are recurrently mutated in multiple cohorts of HCC. 23728943 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.360 Biomarker disease BEFREE The protein-protein interaction between menin and histone methyltransferase mixed lineage leukemia 1 (MLL1) plays an important role in the development of HCC, implying that pharmacologic inhibition of this interaction could lead to new therapeutic strategy for the HCC patients. 29142068 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.360 Biomarker disease CTD_human Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators. 22634756 2012