|
OMIM |
Link |
Information
gain |
01 |
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
0.00233531
|
|
|
|
STUT2
|
[NCBI]
|
0.00137383
|
|
|
|
PC
|
[NCBI]
|
0.00109186
|
|
|
|
holocarboxylase synthetase deficiency
|
[NCBI]
|
0.00107843
|
|
|
|
biotinidase deficiency
|
[NCBI]
|
0.000426313
|
|
|
|
PCK2
|
[NCBI]
|
0.00014432
|
|
|
|
LS
|
[NCBI]
|
9.82333e-05
|
|
|
|
lactic acidosis, fatal infantile
|
[NCBI]
|
7.80613e-05
|
|
|
|
CMT2A2
|
[NCBI]
|
7.26201e-05
|
|
|
|
propionic acidemia
|
[NCBI]
|
6.18336e-05
|
|
|
|
ACACA
|
[NCBI]
|
5.86684e-05
|
|
|
|
HLCS
|
[NCBI]
|
5.86684e-05
|
|
|
|
OPA1
|
[NCBI]
|
5.49394e-05
|
|
|
|
PCCB
|
[NCBI]
|
5.02526e-05
|
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
4.97833e-05
|
|
|
|
maple syrup urine disease
|
[NCBI]
|
4.35316e-05
|
|
