Disease Term Disease ID Gene Symbol References
Cornelia De Lange Syndrome C0270972, 199 KMT2A 28120103
RAD21 22633399, 25378554, 25125236, 17567667, 24378232, 27620904, 30716475, 27882533, 30125677
SMC1A
SMC3
BRD4 29379197
NIPBL 25255084, 15146186, 26544867, 15146185, 19886366, 19763162, 22628566, 29379197
SETD5 28120103
HDAC8 22885700, 19605684, 25102094, 29519750, 22889856
Cornelia de Lange Syndrome 1 C4551851 KMT2A
RAD21
TAF6
SMC1A
SMC3
BRD4 29379197
NIPBL 28167679, 20124326, 29440723, 17661813, 15318302, 27164022, 30158690, 24038889, 19886366, 26938784, 11391654, 15146185, 17221863, 16100726, 23254390, 25447906, 24635725, 20358602, 20824775, 16236812, 23505322, 21934712, 26701315, 19763162, 29379197, 24874887, 15146186, 8291537, 26725122, 26925417
HDAC8
Cornelia de Lange Syndrome 3 C1853099 RAD21
SMC1A
SMC3 26633545, 25125236, 30158690, 25655089, 25529582
BRD4 29379197
NIPBL 19763162, 29379197, 19886366
CORNELIA DE LANGE SYNDROME 4 C3553517 RAD21 27882533, 22633399, 30158690, 30125677, 27620904
UTP23 22633399, 30125677
CORNELIA DE LANGE SYNDROME 5 C3550903 HDAC8 24403048, 22885700, 25533962, 30158690, 26633545, 24375697, 27159028, 26938784, 26671848, 26725122