KMT2B, lysine methyltransferase 2B, 9757

N. diseases: 193; N. variants: 24
Disease: Microdeletion syndromes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1954751
Disease: Microdeletion syndromes
Microdeletion syndromes 		0.010 Biomarker disease BEFREE Independent support for pathogenicity of the mutations comes from the observation of high rates of dystonic presentations in KMT2B-involving microdeletion syndromes. 27839873 2016