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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.420 Biomarker group BEFREE In particular, we found that the DNMs of DNMT3A were shared among EE, autism spectrum disorder (ASD), and intellectual disability (ID) and mainly occurred in the functional domain of DNMT3A. 28386848 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.420 Biomarker group CTD_human Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.420 GeneticVariation group BEFREE Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.420 Biomarker group HPO