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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
DYSKERATOSIS CONGENITA DCLRE1B Unknown — Disgenet
ENOSF1 Unknown — Disgenet
GAR1 Unknown CTD, Disgenet
NHP2 Unknown Disgenet, Orphanet
NOP10 Unknown Disgenet, Orphanet
NPM1 Unknown CTD, Disgenet, GWAS catalog, Orphanet
PFAS Unknown — Disgenet
RMND5B Unknown — Disgenet —
TGM1 Unknown — Disgenet
TP53 Unknown — Disgenet
Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more
USB1 Unknown Disgenet, GWAS catalog, Orphanet —
WRAP53 Unknown ClinGen, Disgenet, GenCC, Orphanet
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT TERT Unknown — CTD, Disgenet
TINF2 Unknown — CTD, Disgenet
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 MECOM Unknown — Disgenet
RTEL1 Unknown — Disgenet
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE DCLRE1B Unknown — Disgenet
NHP2 Unknown — CTD, Disgenet
NOP10 Unknown — CTD, Disgenet
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 NOP10 Unknown ClinVar, Disgenet, HPO
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 RMND5B Unknown — Disgenet —
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 TP53 Unknown — Disgenet
Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4 TERT Unknown — Disgenet
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 ARFRP1 Unknown — Disgenet
TERT Unknown — Disgenet
TNFRSF6B Unknown — Disgenet
DYSKERATOSIS CONGENITA, DIGENIC ENOSF1 Unknown — Disgenet
All26 Causal14 Unknown18