Table 1.
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).