Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 Biomarker group BEFREE Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. 29069077 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 GeneticVariation group BEFREE Kleefstra syndrome (KS), is caused by haploinsufficiency of the EHMT1 gene, and is an example of an emerging group of intellectual disability (ID) disorders caused by genes encoding epigenetic regulators of neuronal gene activity. 23175442 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 Biomarker group BEFREE Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 22726846 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 Biomarker group HPO