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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
PSEUDO-TORCH SYNDROME OCLN Unknown Disgenet, GWAS catalog
PSEUDO-TORCH SYNDROME 1 OCLN Causal CTD, ClinVar, Disgenet, GWAS catalog, HPO
PSEUDO-TORCH SYNDROME 2 USP18 Causal ClinVar, Disgenet, GWAS catalog, HPO
PSEUDO-TORCH SYNDROME 3 STAT2 Causal CTD, ClinVar, Disgenet, HPO
PSEUDO-TORCH SYNDROME TYPE 1 OCLN Unknown Orphanet
PSEUDO-TORCH SYNDROME TYPE 2 USP18 Unknown Orphanet
All3 Causal3 Unknown2