KMT2B, lysine methyltransferase 2B, 9757

N. diseases: 193; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.030 AlteredExpression disease BEFREE The histone H3 lysine 4 (H3K4) presenter WDR5 forms protein complexes with H3K4 methyltransferases MLL1-MLL4 and binding partner proteins including RBBP5, ASH2L, and DPY30, and plays a key role in histone H3K4 trimethylation, chromatin remodeling, transcriptional activation of target genes, normal biology, and diseases such as MLL-rearranged leukemia. 30488017 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.030 Biomarker disease BEFREE These findings highlight the relevance of MLL2 as a drug target in MLL-rearranged leukemia and suggest its broader significance in AML. 28609655 2017
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.030 Biomarker disease BEFREE Both gain-of-function and loss-of-function mutations in hematologic malignancy are restricted to MLL1 and MLL3/MLL4, but emerging data indicate that SETD1A/SETD1B and MLL2 can be critical in leukemia as well. 28375985 2017