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Table 1 H3K4 methylation machinery implicated in cognitive disease

From: Histone H3 lysine K4 methylation and its role in learning and memory

Enzyme Associated cognitive disease OMIM # Mutation type References
KMT2A Wiedemann–Steiner syndrome 605130 Predicted LOF [12, 97,98,99]
KMT2B Dystonia 28 617284 Predicted LOF [13, 100]
KMT2C Kleefstra syndrome 2 617768 Predicted LOF [14, 98, 101,102,103]
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]
  1. 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