DNMT3A, DNA methyltransferase 3 alpha, 1788

N. diseases: 350; N. variants: 56
Disease: Profound Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070 2014