Pseudo-torch syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Pseudo-TORCH syndrome C3489725 OCLN Causal Pathogenic evidence from ClinVar 20727516, 23793442 ClinVar
USP18 Causal Pathogenic evidence from ClinVar 27325888 ClinVar
ADAR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23001123 -
IFIH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24686847 -
RNASEH2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SAMHD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23364794 -
TREX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16845398 -
PSEUDO-TORCH SYNDROME 1 C4552078 OCLN Causal Pathogenic evidence from ClinVar 20727516, 23793442 ClinVar
PSEUDO-TORCH SYNDROME 2 C4479376 USP18 Causal Pathogenic evidence from ClinVar 12833411, 27325888, 27821552 ClinVar
USP18 deficiency 481665 USP18 Causal Pathogenic evidence from ClinVar - ClinVar