Table 1.

H3K4 methylation machinery implicated in cognitive disease

Enzyme	Associated cognitive disease	OMIM #	Mutation type	References
KMT2A	Wiedemann–Steiner syndrome	605130	Predicted LOF	[12, 97–99]
KMT2B	Dystonia 28	617284	Predicted LOF	[13, 100]
KMT2C	Kleefstra syndrome 2	617768	Predicted LOF	[14, 98, 101–103]
KMT2D	Kabuki syndrome 1	147920	Predicted LOF	[15, 104]
KMT2E	ASD	n/a	Predicted LOF	[16]
KMT2F	Schizophrenia	n/a	Predicted LOF	[19, 105]
KDM1A	CPRF	616728	Unknown	[17, 106]
KDM5A	ID	n/a	Predicted LOF	[107]
KDM5B	ASD, ID	n/a	Unknown	[97, 102, 103, 108]
KDM5C	Claes–Jensen syndrome, ASD	300534	Predicted LOF	[18, 109]

Associated disease(s) are listed in the second column. Online Mendelian Inheritance in Man (OMIM) # reported for each disease in the third column. Mutation type, if predicted or unknown, reported in the fourth column (LOF loss of function). References contributing significantly to an understanding of disease etiology or clinical manifestations are listed in the fifth column