Dyskeratosis congenita
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 | |||
| 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 | ||
| 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 |