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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
TRICHOHEPATOENTERIC SYNDROME SKIC2 Causal CTD, Disgenet, Orphanet —
SKIC3 Causal CTD, ClinVar, Disgenet, Orphanet —
NELFE Unknown — Disgenet
TRICHOHEPATOENTERIC SYNDROME 1 AGK Causal — Disgenet
SKIC3 Causal ClinGen, ClinVar, Disgenet, HPO —
TRICHOHEPATOENTERIC SYNDROME 2 SKIC2 Causal ClinGen, ClinVar, Disgenet, GenCC, HPO —
All4 Causal3 Unknown1