Waardenburg syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| WAARDENBURG SYNDROME | MITF | Causal | — | Disgenet, GenCC | ||
| PAX3 | Causal | CTD, ClinGen, Disgenet | ||||
| SOX10 | Causal | — | Disgenet | |||
| WAARDENBURG SYNDROME TYPE 1 | MITF | Causal | — | Disgenet | ||
| PAX3 | Causal | ClinVar, Disgenet, Orphanet | ||||
| SOX10 | Causal | — | Disgenet | |||
| WAARDENBURG SYNDROME TYPE 2 | MITF | Causal | CTD, ClinGen, Disgenet, HPO, Orphanet | |||
| WAARDENBURG SYNDROME TYPE 2A | MITF | Causal | CTD, ClinVar | |||
| WAARDENBURG SYNDROME TYPE 2E | SOX10 | Causal | ClinVar, GWAS catalog | |||
| WAARDENBURG SYNDROME TYPE 3 | PAX3 | Causal | ClinVar, Disgenet, Orphanet | |||
| WAARDENBURG SYNDROME TYPE 4A | EDNRB | Causal | ClinGen, ClinVar, GWAS catalog | |||
| WAARDENBURG SYNDROME TYPE 4B | EDN3 | Causal | ClinGen, ClinVar, GWAS catalog | |||
| WAARDENBURG SYNDROME TYPE 4C | SOX10 | Causal | — | ClinGen, ClinVar, GenCC | ||
| WAARDENBURG SYNDROME, IIA 2F | KITLG | Causal | ClinVar, GWAS catalog |