Maple syrup urine disease
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| MAPLE SYRUP URINE DISEASE | BCKDHA | Causal | — | CTD, ClinVar, Disgenet, GenCC | ||
| BCKDHB | Causal | ClinVar, Disgenet, GWAS catalog | ||||
| DBT | Causal | CTD, ClinGen, Disgenet | ||||
| MAPLE SYRUP URINE DISEASE TYPE 1A | BCKDHA | Causal | — | ClinGen, ClinVar, GenCC | ||
| MAPLE SYRUP URINE DISEASE TYPE 1B | BCKDHB | Causal | — | ClinGen, ClinVar, GenCC | ||
| MAPLE SYRUP URINE DISEASE TYPE 2 | DBT | Causal | — | ClinVar, GenCC | ||
| MAPLE SYRUP URINE DISEASE, MILD VARIANT | PPM1K | Causal | ClinGen, ClinVar, Disgenet, GenCC, HPO |