|
OMIM |
Link |
Information gain |
01 |
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
0.00386879
|
|
|
PDHA1
|
[NCBI]
|
0.00242121
|
|
|
STUT2
|
[NCBI]
|
0.00137383
|
|
|
pyruvate dehydrogenase e3-binding protein deficiency
|
[NCBI]
|
0.000762311
|
|
|
LS
|
[NCBI]
|
0.000358913
|
|
|
PDHX
|
[NCBI]
|
0.000351807
|
|
|
pyruvate dehydrogenase e2 deficiency
|
[NCBI]
|
0.000238404
|
|
|
pyruvate dehydrogenase phosphatase deficiency
|
[NCBI]
|
0.000183885
|
|
|
maple syrup urine disease
|
[NCBI]
|
0.000161587
|
|
|
TRMA
|
[NCBI]
|
0.000134937
|
|
|
PCK2
|
[NCBI]
|
0.000127623
|
|
|
leigh syndrome, x-linked
|
[NCBI]
|
8.26281e-05
|
|
|
PDHA2
|
[NCBI]
|
8.04195e-05
|
|
|
mitochondrial myopathy with diabetes
|
[NCBI]
|
7.02714e-05
|
|
|
PDHB
|
[NCBI]
|
6.66417e-05
|
|
|
CMT2A2
|
[NCBI]
|
6.48423e-05
|
|
|
mitochondrial dna depletion syndrome, hepatocerebral form
|
[NCBI]
|
5.85774e-05
|
|
|
DLAT
|
[NCBI]
|
5.80685e-05
|
|
|
SLC19A2
|
[NCBI]
|
4.81311e-05
|
|
|
OPA1
|
[NCBI]
|
4.72458e-05
|
|
|
GLUD1
|
[NCBI]
|
4.46476e-05
|
|
|
DLD
|
[NCBI]
|
4.394e-05
|
|
|
MTTK
|
[NCBI]
|
3.59696e-05
|
|
|
MTATP6
|
[NCBI]
|
3.40516e-05
|
|
|
MTTL1
|
[NCBI]
|
2.70977e-05
|
|
|
FRDA
|
[NCBI]
|
2.69268e-05
|
|
|
KSS
|
[NCBI]
|
2.29361e-05
|
|