Hirschsprung disease
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION | ECE1 | Causal | — | CTD, ClinVar, Disgenet, HPO | ||
| HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | RET | Causal | ClinVar, GWAS catalog | |||
| HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 | EDNRB | Causal | ClinVar, GWAS catalog | |||
| HIRSCHSPRUNG DISEASE-GANGLIONEUROBLASTOMA SYNDROME | PHOX2B | Causal | Orphanet | — |