Maple syrup urine disease

Disease Term Disease ID Gene Symbol References
Maple Syrup Urine Disease C0024776 BCAT2 14755340
BCKDHA 16786533, 26830710, 14517957, 1867199, 14567968, 22593002, 9582350, 19456321, 26257134, 7883996, 25255367, 1885764, 11069910, 19715473, 8037208, 25525159, 18378174, 11507102, 16468966, 10745006, 26232051, 19480318, 2241958, 21098507, 8161368, 31112740, 2060625, 26901124, 21844576, 2703538, 11825067, 25087612, 17922217, 10694918, 22727569
BCKDHB 17922217, 16468966, 16786533, 28830848, 28197878, 11180212, 11509994, 18378174, 25333063, 28417071, 26830710, 19480318, 14567968, 19282776, 24772966, 11112664, 22350544, 25525159, 8430702, 25381949, 14742428, 11448970, 31112740, 20307994, 26232051, 8161368, 22593002, 14517957, 26786177, 22727569, 26453840, 26257134, 8312380, 21484869, 9375800, 4517957, 22326532, 24995870, 27682710, 27507644, 15884622
DBT 26257134, 21098507, 16579849, 28417071, 22046030, 24772966, 14517957, 24394677, 20307994, 31119508, 8430702, 18378174, 1847055, 20570198, 9621512, 16468966, 20639189, 31112740, 24486081, 26683372, 27518768, 16786533, 1990841, 26589311, 10915611, 9239422, 22727569, 25255367, 28919799
DLD
PPM1K
Classic Maple Syrup Urine Disease C0268568, 268145 BCAT2 14755340
BCKDHA
BCKDHB
DBT
PPM1K
Intermittent Maple Syrup Urine Disease C0268569, 268173 BCAT2 14755340
BCKDHA
BCKDHB
DBT
PPM1K
Maple Syrup Urine Disease, Thiamine Responsive C0751285 BCAT2 14755340
BCKDHA
BCKDHB
DBT
PPM1K
Intermediate Maple Syrup Urine Disease C1621920, 268162 BCAT2 14755340
BCKDHA
BCKDHB
DBT
PPM1K 23086801
Maple Syrup Urine Disease, Type IA C1855369 BCKDHA 27604308
Maple syrup urine disease, type 1A C2930989 BCKDHA 12888983, 27403441, 19480318, 26830710, 21228398, 2703538, 10694918, 14567968, 23765052, 24374108, 14517957, 8037208, 21098507
Maple syrup urine disease, type 1B C2930990 BCKDHB 27604308
MAPLE SYRUP URINE DISEASE, TYPE II C1855371 DBT 27604308
MAPLE SYRUP URINE DISEASE, MILD VARIANT C3554575 PPM1K