Disease Term Disease ID Gene Symbol Classification References Source
THIAMIN-RESPONSIVE MAPLE SYRUP URINE DISEASE BCKDHA Unknown Disgenet
BCKDHB Unknown Disgenet
DBT Unknown Disgenet
THIAMINE-RESPONSIVE MAPLE SYRUP URINE DISEASE BCKDHA Unknown GWAS catalog
BCKDHB Unknown GWAS catalog
DBT Unknown CTD Orphanet