Disease Term Disease ID Gene Symbol References
Pseudo-TORCH syndrome C3489725 ADAR 23001123
USP18 27325888
TREX1 16845398
SAMHD1 23364794
IFIH1 24686847
RNASEH2B
OCLN 23793442, 20727516
PSEUDO-TORCH SYNDROME 1 C4552078 OCLN 20727516, 23793442
PSEUDO-TORCH SYNDROME 2 C4479376 USP18 27821552, 12833411, 27325888
USP18 deficiency 481665 USP18