Maple syrup urine disease

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