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. 2022 Mar 15;13(3):514. doi: 10.3390/genes13030514

Table 1.

Details of genes and syndromes represented in Figure 2.

Gene (OMIM *) Associated Developmental Disorder(s) (OMIM #) Targeted Lysine Residue
SETD1A (611052) Neurodevelopmental disorder with speech impairment and dysmorphic facies NEDSID (619056)/Epilepsy, early-onset, with or without developmental delay EPEDD (618832) H3K4 (met)
SETD2 (612778) Luscan-Lumish S. (616831) H3K36 (met)
KDM1A (609132) Cleft palate, psychomotor retardation, distinctive facial features (616728) H3K4 (demet)
H3K9 (demet)
KDM5C (314690) Claes-Jensen S. (300534) H3K4 (demet)
KDM6A (300128) Kabuki S. 2 (300867) H3K27 (demet)
KMT2A (159555) Wiedemann–Steiner S. (605130) H3K4 (met)
KMT2B (606834) Dystonia 28 (617284) H3K4 (met)
KMT2C (606833) Kleefstra S. 2 (617768) H3K4 (met)
KMT2D (602113) Kabuki S. 1 (147920) H3K4 (met)
KMT5B (610881) Intellectual disability (617788) H4K20 (met)
EZH2 (601573) Weaver S. (277590) H3K9 (met)
H3K27 (met)
EHMT1 (607001) Kleefstra S. 1 (610253) H3K9 (met)
ASH1L (607999) Intellectual disability (617796) H3K36 (met)
NSD1 (606681) Sotos S. (117550) H3K36 (met)
H4K20 (met)
NSD2 (602952) Wolf Hirschhorn S. (194190) H3K36 (met)
PHF8 (300560) Siderius S. (300263) H3K9 (demet)
H3K27 (demet)
H4K20 (demet)

*: Gene, #: Associated Developmental Disorder(s).