DNMT3A, DNA methyltransferase 3 alpha, 1788

N. diseases: 350; N. variants: 56
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018273
Disease: Growth Disorders
Growth Disorders
0.300 Biomarker group CTD_human Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. 30478443 2019
CUI: C0018273
Disease: Growth Disorders
Growth Disorders
0.300 Biomarker group CTD_human Thus, DNMT3A joins an emerging group of epigenetic DNA- and histone-modifying genes associated with both developmental growth disorders and hematological malignancies. 24614070 2014