Disease Term Disease ID Gene Symbol References
Seckel syndrome C0265202, 808 ATR 12640452
CDC6 22333897
CENPE 24748105
CENPF 25564561
DNA2
DNMT3A 29900417
IGF1 8857020
LIG4 11779494
ORC1 21358633
ORC4 21358632
PCNT 19643772
RBBP8 21998596
XRCC4 24389050
TRAIP 26595769
PLK4 25344692, 25320347
WDR4 29597095
CEP152 21131973
ORC6 21358632
GMNN 26637980
CENPJ 20522431
CDT1 21358632
ATRIP 23144622
Seckel syndrome 1 C4551474 ATR 12640452
PCNT 18157127
CEP152 21131973
SECKEL SYNDROME 8 C3891452 DNA2 24389050
SECKEL SYNDROME 2 C1847572 PCNT 18174396
RBBP8 21998596, 24389050
SECKEL SYNDROME 9 C4225212 TRAIP 26595769, 30914295
SECKEL SYNDROME 5 C3151187 CEP152 21131973
CENPJ
SECKEL SYNDROME 7 C3553870 NIN 22933543, 23665482
SECKEL SYNDROME 4 C3888212 CENPJ 20522431, 16900296
SECKEL SYNDROME 6 C3553582 CEP63 21983783, 26400686, 26158450
SECKEL SYNDROME 10 C4310647 NSMCE2 25105364