Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| CORNEAL INTRAEPITHELIAL DYSKERATOSIS, PALMOPLANTAR HYPERKERATOSIS, LARYNGEAL DYSKERATOSIS SYNDROME | NLRP1 | Unknown | — | Disgenet | ||
| CORNEAL INTRAEPITHELIAL DYSKERATOSIS-PALMOPLANTAR HYPERKERATOSIS-LARYNGEAL DYSKERATOSIS SYNDROME | NLRP1 | Causal | ClinVar, Disgenet, Orphanet |