|
OMIM |
Link |
Information gain |
01 |
|
TRMA
|
[NCBI]
|
0.00289629
|
|
|
wernicke-korsakoff syndrome
|
[NCBI]
|
0.00230594
|
|
|
maple syrup urine disease
|
[NCBI]
|
0.00111916
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
0.00110076
|
|
|
SLC19A2
|
[NCBI]
|
0.000512539
|
|
|
LS
|
[NCBI]
|
0.000380917
|
|
|
lactic acidosis, fatal infantile
|
[NCBI]
|
0.000221394
|
|
|
cerebrocortical degeneration of infancy
|
[NCBI]
|
0.000161681
|
|
|
mitochondrial myopathy with lactic acidosis
|
[NCBI]
|
0.000130109
|
|
|
leigh syndrome, x-linked
|
[NCBI]
|
0.000118204
|
|
|
DBT
|
[NCBI]
|
0.000104757
|
|
|
hypoascorbemia
|
[NCBI]
|
7.98314e-05
|
|
|
coenzyme q10 deficiency
|
[NCBI]
|
7.67194e-05
|
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
7.15613e-05
|
|
|
HNPP
|
[NCBI]
|
6.3876e-05
|
|
|
WFS1
|
[NCBI]
|
6.15725e-05
|
|
|
PDHA1
|
[NCBI]
|
5.65441e-05
|
|
|
PDSS2
|
[NCBI]
|
4.263e-05
|
|
|
CF
|
[NCBI]
|
4.02152e-05
|
|
|
TPK1
|
[NCBI]
|
3.98284e-05
|
|
|
TKTL1
|
[NCBI]
|
3.98284e-05
|
|
|
giant platelet syndrome
|
[NCBI]
|
3.4896e-05
|
|
|
BCKDHB
|
[NCBI]
|
3.32449e-05
|
|
|
BCKDHA
|
[NCBI]
|
3.03856e-05
|
|
|
TKT
|
[NCBI]
|
2.85336e-05
|
|
|
TFF1
|
[NCBI]
|
2.64103e-05
|
|
|
KLF4
|
[NCBI]
|
2.29353e-05
|
|
|
PC
|
[NCBI]
|
1.90067e-05
|
|
|
SST
|
[NCBI]
|
1.55584e-05
|
|
|
MPO
|
[NCBI]
|
3.19225e-06
|
|
|
ACHE
|
[NCBI]
|
1.76906e-06
|
|