|
OMIM |
Link |
Information gain |
01 |
|
myopathy with deficiency of succinate dehydrogenase and aconitase
|
[NCBI]
|
0.0034382
|
|
|
beta-aminoisobutyric acid, urinary excretion of
|
[NCBI]
|
0.00305188
|
|
|
tricarboxylic acid cycle, defect of
|
[NCBI]
|
0.00247056
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
0.00170755
|
|
|
MCDU
|
[NCBI]
|
0.00145259
|
|
|
LS
|
[NCBI]
|
0.000858152
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
0.000683651
|
|
|
lactic acidosis, fatal infantile
|
[NCBI]
|
0.000492953
|
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
0.000391551
|
|
|
carnitine acetyltransferase deficiency
|
[NCBI]
|
0.000308968
|
|
|
alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus
|
[NCBI]
|
0.000265478
|
|
|
histidinemia
|
[NCBI]
|
0.000244789
|
|
|
KSS
|
[NCBI]
|
0.000224732
|
|
|
pyruvate dehydrogenase phosphatase deficiency
|
[NCBI]
|
0.00022204
|
|
|
SLE
|
[NCBI]
|
0.000159766
|
|
|
lactic acidosis, chronic adult form
|
[NCBI]
|
0.000154326
|
|
|
cerebrocortical degeneration of infancy
|
[NCBI]
|
0.000154326
|
|
|
PC
|
[NCBI]
|
0.00014655
|
|
|
mitochondrial myopathy with lactic acidosis
|
[NCBI]
|
0.000122761
|
|
|
pyruvate kinase deficiency of red cells
|
[NCBI]
|
0.000119753
|
|
|
leigh syndrome, x-linked
|
[NCBI]
|
0.000110863
|
|
|
maple syrup urine disease
|
[NCBI]
|
0.000105039
|
|
|
FRDA
|
[NCBI]
|
9.31494e-05
|
|
|
hyperoxaluria, primary, type ii
|
[NCBI]
|
8.90609e-05
|
|
|
wolfram syndrome, mitochondrial form
|
[NCBI]
|
8.90609e-05
|
|
|
mitochondrial myopathy with diabetes
|
[NCBI]
|
8.58202e-05
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
8.29902e-05
|
|
|
MSS
|
[NCBI]
|
7.61736e-05
|
|
|
MERRF
|
[NCBI]
|
7.42983e-05
|
|
|
parkinson disease, mitochondrial
|
[NCBI]
|
7.42983e-05
|
|
|
SLC16A7
|
[NCBI]
|
6.87748e-05
|
|
|
OPTB3
|
[NCBI]
|
6.67574e-05
|
|
|
hyperoxaluria, primary, type i
|
[NCBI]
|
5.30376e-05
|
|
|
glycogen storage disease v
|
[NCBI]
|
5.30376e-05
|
|
|
glycogen storage disease vii
|
[NCBI]
|
4.99061e-05
|
|
|
mitochondrial complex i deficiency
|
[NCBI]
|
4.93323e-05
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
4.76723e-05
|
|
|
PDHA1
|
[NCBI]
|
4.7427e-05
|
|
|
SLC16A1
|
[NCBI]
|
4.71874e-05
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
4.71834e-05
|
|
|
CTNS
|
[NCBI]
|
4.57069e-05
|
|
|
HMGB1
|
[NCBI]
|
4.34347e-05
|
|
|
SLC5A8
|
[NCBI]
|
3.21543e-05
|
|
|
alpha-ketoglutarate dehydrogenase deficiency
|
[NCBI]
|
3.10771e-05
|
|
|
DLAT
|
[NCBI]
|
3.01815e-05
|
|
|
MTTF
|
[NCBI]
|
3.01815e-05
|
|
|
VDAC1
|
[NCBI]
|
2.76145e-05
|
|
|
diphosphoglycerate mutase deficiency of erythrocyte
|
[NCBI]
|
2.62711e-05
|
|
|
HDC
|
[NCBI]
|
2.57181e-05
|
|
|
ME2
|
[NCBI]
|
2.55332e-05
|
|
|
DLD
|
[NCBI]
|
2.2285e-05
|
|
|
LDHA
|
[NCBI]
|
2.19239e-05
|
|
|
glycogen storage disease i
|
[NCBI]
|
1.9798e-05
|
|
|
MTATP6
|
[NCBI]
|
1.96826e-05
|
|
|
DAO
|
[NCBI]
|
1.83764e-05
|
|
|
EGF
|
[NCBI]
|
1.78023e-05
|
|
|
MAPK3
|
[NCBI]
|
1.73322e-05
|
|
|
BL
|
[NCBI]
|
1.73183e-05
|
|
|
MODY
|
[NCBI]
|
1.54206e-05
|
|
|
ADA
|
[NCBI]
|
1.23334e-05
|
|
|
phenylketonuria
|
[NCBI]
|
1.17e-05
|
|
|
TNFSF10
|
[NCBI]
|
9.83097e-06
|
|
|
AKR1B1
|
[NCBI]
|
9.71834e-06
|
|
|
INS
|
[NCBI]
|
8.85054e-06
|
|
|
MB
|
[NCBI]
|
7.08633e-06
|
|
|
GIP
|
[NCBI]
|
7.03356e-06
|
|
|
IL2
|
[NCBI]
|
6.40181e-06
|
|
|
SOD2
|
[NCBI]
|
6.37187e-06
|
|
|
PYY
|
[NCBI]
|
6.04253e-06
|
|
|
GAPDH
|
[NCBI]
|
4.71208e-06
|
|
|
G6PD
|
[NCBI]
|
3.1135e-06
|
|
|
F3
|
[NCBI]
|
1.99977e-06
|
|
|
NPPA
|
[NCBI]
|
1.56164e-06
|
|
|
HGF
|
[NCBI]
|
8.76702e-07
|
|
|
TNF
|
[NCBI]
|
5.99239e-07
|
|
|
PRL
|
[NCBI]
|
2.4052e-07
|
|
|
PTH
|
[NCBI]
|
9.96516e-08
|
|