Hirschsprung disease
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| HIRSCHSPRUNG DISEASE | SLC22A1 | Unknown | — | Disgenet | |
| SLC6A20 | Unknown | GWAS catalog | |||
| SMO | Unknown | Disgenet Orphanet | |||
| SNF8 | Unknown | — | Disgenet | ||
| SOX10 | Unknown | — | Disgenet | ||
| SREBF1 | Unknown | ClinGen Disgenet Orphanet | |||
| STIM2 | Unknown | GWAS catalog | |||
| STX1A | Unknown | — | Disgenet | ||
| TBATA | Unknown | — | Disgenet | ||
| TMEM165 | Unknown | — | Disgenet | ||
| UTP25 | Unknown | CTD Disgenet | |||
| VCL | Unknown | — | Disgenet | ||
| VRK2 | Unknown | GWAS catalog | |||
| WNT8B | Unknown | — | Disgenet | ||
| YWHAE | Unknown | — | Disgenet | ||
| ZEB2 | Unknown | — | Disgenet | ||
| ZNF592 | Unknown | — | Disgenet | ||
| HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION | ECE1 | Causal | — | CTD ClinVar Disgenet HPO | |
| HIRSCHSPRUNG DISEASE, GANGLIONEUROBLASTOMA SYNDROME | PHOX2B | Unknown | — | Disgenet | |
| HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | RET | Causal | ClinVar GWAS catalog | ||
| HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 | EDNRB | Causal | ClinVar GWAS catalog | ||
| HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 | GDNF | Unknown | — | ClinVar | |
| HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4 | EDN3 | Unknown | — | ClinVar GenCC | |
| HIRSCHSPRUNG DISEASE-GANGLIONEUROBLASTOMA SYNDROME | PHOX2B | Causal | Orphanet |