KDM6A, lysine demethylase 6A, 7403

N. diseases: 238; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.320 AlteredExpression disease BEFREE Moreover, trimethylation of H3K27 and expression of its modifiers EZH2, KDM6A and KDM6B were detected in a spatio-temporal manner during development of the human cerebellum, with consistent high occurrence in the four proliferative zones, which are believed to harbor the precursor cells of the different MB subgroups. 29108280 2017
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.320 Biomarker disease BEFREE Recurrent mutations were detected in 41 genes not yet implicated in medulloblastoma; several target distinct components of the epigenetic machinery in different disease subgroups, such as regulators of H3K27 and H3K4 trimethylation in subgroups 3 and 4 (for example, KDM6A and ZMYM3), and CTNNB1-associated chromatin re-modellers in WNT-subgroup tumours (for example, SMARCA4 and CREBBP). 22722829 2012
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.320 GenomicAlterations disease CGI
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.320 CausalMutation disease CGI