Branched-chain keto acid dehydrogenase kinase deficiency
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY | BCKDK | Causal | CTD, ClinGen, ClinVar, Disgenet, HPO |