|
OMIM |
Link |
Information gain |
01 |
|
MCDU
|
[NCBI]
|
0.00305188
|
|
|
myopathy with deficiency of succinate dehydrogenase and aconitase
|
[NCBI]
|
0.00291356
|
|
|
tricarboxylic acid cycle, defect of
|
[NCBI]
|
0.0022261
|
|
|
stomatocytosis i
|
[NCBI]
|
0.00217898
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
0.00172248
|
|
|
cataract and cardiomyopathy
|
[NCBI]
|
0.00128562
|
|
|
NAD
|
[NCBI]
|
0.00121061
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
0.000916455
|
|
|
lactic acidosis, fatal infantile
|
[NCBI]
|
0.000909553
|
|
|
LS
|
[NCBI]
|
0.000798076
|
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
0.000683738
|
|
|
mitochondrial complex i deficiency
|
[NCBI]
|
0.000458002
|
|
|
alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus
|
[NCBI]
|
0.000418234
|
|
|
RA
|
[NCBI]
|
0.00040254
|
|
|
maple syrup urine disease
|
[NCBI]
|
0.000378515
|
|
|
KSS
|
[NCBI]
|
0.000304053
|
|
|
glycogen storage disease v
|
[NCBI]
|
0.000281664
|
|
|
mitochondrial myopathy with lactic acidosis
|
[NCBI]
|
0.00027866
|
|
|
SLE
|
[NCBI]
|
0.000256118
|
|
|
erythrocyte lactate transporter defect
|
[NCBI]
|
0.000215578
|
|
|
fructose-1,6-bisphosphatase deficiency
|
[NCBI]
|
0.000170371
|
|
|
biotinidase deficiency
|
[NCBI]
|
0.000167651
|
|
|
glycogen storage disease i
|
[NCBI]
|
0.000162248
|
|
|
brody myopathy
|
[NCBI]
|
0.000160258
|
|
|
lactic aciduria due to d-lactic acid
|
[NCBI]
|
0.000139249
|
|
|
cramps, familial adolescent
|
[NCBI]
|
0.000139249
|
|
|
lactic acidosis, chronic adult form
|
[NCBI]
|
0.000139249
|
|
|
myopathy, granulovacuolar lobular, with electrical myotonia
|
[NCBI]
|
0.000139249
|
|
|
VWM
|
[NCBI]
|
0.000139091
|
|
|
acyl-coa dehydrogenase, short-chain, deficiency of
|
[NCBI]
|
0.000133817
|
|
|
glycogen storage disease ib
|
[NCBI]
|
0.000119184
|
|
|
SLC16A1
|
[NCBI]
|
0.000106178
|
|
|
glycogen storage disease vii
|
[NCBI]
|
0.000101911
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
9.63839e-05
|
|
|
leigh syndrome, x-linked
|
[NCBI]
|
9.58345e-05
|
|
|
LBSL
|
[NCBI]
|
8.81416e-05
|
|
|
MLASA
|
[NCBI]
|
8.24342e-05
|
|
|
glycogen storage disease 0, muscle
|
[NCBI]
|
8.24342e-05
|
|
|
pyruvate dehydrogenase phosphatase deficiency
|
[NCBI]
|
7.78961e-05
|
|
|
CGD
|
[NCBI]
|
7.57242e-05
|
|
|
wolfram syndrome, mitochondrial form
|
[NCBI]
|
7.41307e-05
|
|
|
phosphorylase kinase deficiency of liver and muscle, autosomal recessive
|
[NCBI]
|
7.41307e-05
|
|
|
mitochondrial myopathy
|
[NCBI]
|
7.41307e-05
|
|
|
CF
|
[NCBI]
|
6.91007e-05
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
6.81091e-05
|
|
|
adenosine deaminase, elevated, hemolytic anemia due to
|
[NCBI]
|
6.81091e-05
|
|
|
TNF
|
[NCBI]
|
6.5919e-05
|
|
|
VRNI
|
[NCBI]
|
6.49659e-05
|
|
|
succinyl-coa:3-oxoacid coa transferase deficiency
|
[NCBI]
|
6.1366e-05
|
|
|
MSS
|
[NCBI]
|
6.1366e-05
|
|
|
NETH
|
[NCBI]
|
5.95153e-05
|
|
|
MERRF
|
[NCBI]
|
5.95153e-05
|
|
|
PC
|
[NCBI]
|
5.85601e-05
|
|
|
mitochondrial dna depletion syndrome, myopathic form
|
[NCBI]
|
5.78111e-05
|
|
|
PDHA1
|
[NCBI]
|
5.54967e-05
|
|
|
SLC16A7
|
[NCBI]
|
5.37958e-05
|
|
|
MTTF
|
[NCBI]
|
5.37958e-05
|
|
|
donohue syndrome
|
[NCBI]
|
5.33878e-05
|
|
|
3-@methylcrotonyl-coa carboxylase 1 deficiency
|
[NCBI]
|
5.2097e-05
|
|
|
FHM1
|
[NCBI]
|
5.2097e-05
|
|
|
mitochondrial dna depletion syndrome, hepatocerebral form
|
[NCBI]
|
5.2097e-05
|
|
|
TRMA
|
[NCBI]
|
5.08808e-05
|
|
|
MELAS
|
[NCBI]
|
4.66211e-05
|
|
|
propionic acidemia
|
[NCBI]
|
4.47812e-05
|
|
|
holocarboxylase synthetase deficiency
|
[NCBI]
|
4.39199e-05
|
|
|
glycogen storage disease iii
|
[NCBI]
|
4.30937e-05
|
|
|
hyperglycerolemia
|
[NCBI]
|
4.22999e-05
|
|
|
histidinemia
|
[NCBI]
|
4.15364e-05
|
|
|
PYGM
|
[NCBI]
|
4.0398e-05
|
|
|
CAT
|
[NCBI]
|
3.90577e-05
|
|
|
AMPD1
|
[NCBI]
|
3.85468e-05
|
|
|
MADD
|
[NCBI]
|
3.68844e-05
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
3.28147e-05
|
|
|
MTATP6
|
[NCBI]
|
3.21053e-05
|
|
|
CTNS
|
[NCBI]
|
3.17333e-05
|
|
|
pyruvate kinase deficiency of red cells
|
[NCBI]
|
3.04297e-05
|
|
|
MB
|
[NCBI]
|
2.83927e-05
|
|
|
MHS1
|
[NCBI]
|
2.80746e-05
|
|
|
PTH
|
[NCBI]
|
2.62061e-05
|
|
|
NDUFS6
|
[NCBI]
|
2.60558e-05
|
|
|
SLC16A5
|
[NCBI]
|
2.60558e-05
|
|
|
ALB
|
[NCBI]
|
2.49968e-05
|
|
|
SLC5A8
|
[NCBI]
|
2.47071e-05
|
|
|
OXCT1
|
[NCBI]
|
2.36332e-05
|
|
|
alpha-ketoglutarate dehydrogenase deficiency
|
[NCBI]
|
2.36332e-05
|
|
|
AVP
|
[NCBI]
|
2.27476e-05
|
|
|
PCK2
|
[NCBI]
|
2.27409e-05
|
|
|
DLAT
|
[NCBI]
|
2.27409e-05
|
|
|
INS
|
[NCBI]
|
2.23381e-05
|
|
|
YAP1
|
[NCBI]
|
2.19776e-05
|
|
|
glycogen storage disease vi
|
[NCBI]
|
2.13109e-05
|
|
|
NDUFS4
|
[NCBI]
|
2.13109e-05
|
|
|
thrombasthenia of glanzmann and naegeli
|
[NCBI]
|
2.09711e-05
|
|
|
glycogen storage disease ii
|
[NCBI]
|
2.07332e-05
|
|
|
ADA
|
[NCBI]
|
2.02539e-05
|
|
|
GYS1
|
[NCBI]
|
2.0187e-05
|
|
|
phosphoglycerate mutase, muscle, deficiency of
|
[NCBI]
|
2.0187e-05
|
|
|
ATP2A1
|
[NCBI]
|
1.97038e-05
|
|
|
GAPDH
|
[NCBI]
|
1.88721e-05
|
|
|
krabbe disease
|
[NCBI]
|
1.87439e-05
|
|
|
NPPA
|
[NCBI]
|
1.80595e-05
|
|
|
AHO
|
[NCBI]
|
1.79386e-05
|
|
|
PFKM
|
[NCBI]
|
1.71874e-05
|
|
|
GIP
|
[NCBI]
|
1.70602e-05
|
|
|
SHBG
|
[NCBI]
|
1.61949e-05
|
|
|
3-@hydroxy-3-methylglutaryl-coa lyase deficiency
|
[NCBI]
|
1.57091e-05
|
|
|
MTND3
|
[NCBI]
|
1.57091e-05
|
|
|
HK1
|
[NCBI]
|
1.54992e-05
|
|
|
MTTK
|
[NCBI]
|
1.39195e-05
|
|
|
FASN
|
[NCBI]
|
1.39195e-05
|
|
|
FABP3
|
[NCBI]
|
1.36264e-05
|
|
|
MTCYB
|
[NCBI]
|
1.26e-05
|
|
|
HPS
|
[NCBI]
|
1.21409e-05
|
|
|
AD
|
[NCBI]
|
1.19517e-05
|
|
|
HS
|
[NCBI]
|
1.18481e-05
|
|
|
GPI
|
[NCBI]
|
1.15081e-05
|
|
|
PGK1
|
[NCBI]
|
1.10248e-05
|
|
|
APCS
|
[NCBI]
|
1.08594e-05
|
|
|
methemoglobinemia due to deficiency of methemoglobin reductase
|
[NCBI]
|
1.08594e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
1.05446e-05
|
|
|
MAPK3
|
[NCBI]
|
1.01081e-05
|
|
|
MTTL1
|
[NCBI]
|
9.77279e-06
|
|
|
LPL
|
[NCBI]
|
9.40563e-06
|
|
|
H6PD
|
[NCBI]
|
8.99901e-06
|
|
|
UCP3
|
[NCBI]
|
8.94452e-06
|
|
|
PF4
|
[NCBI]
|
7.2649e-06
|
|
|
G6PD
|
[NCBI]
|
6.14159e-06
|
|
|
SLC2A4
|
[NCBI]
|
6.12149e-06
|
|
|
IL6
|
[NCBI]
|
5.56963e-06
|
|
|
RTT
|
[NCBI]
|
5.11026e-06
|
|
|
phenylketonuria
|
[NCBI]
|
4.93884e-06
|
|
|
VEGF
|
[NCBI]
|
4.75781e-06
|
|
|
OXT
|
[NCBI]
|
4.27848e-06
|
|
|
XDH
|
[NCBI]
|
4.26115e-06
|
|
|
AKR1B1
|
[NCBI]
|
3.29224e-06
|
|
|
IAPP
|
[NCBI]
|
3.0736e-06
|
|
|
NGFB
|
[NCBI]
|
2.93499e-06
|
|
|
STAR
|
[NCBI]
|
2.82744e-06
|
|
|
PMCH
|
[NCBI]
|
2.6918e-06
|
|
|
MPO
|
[NCBI]
|
2.20746e-06
|
|
|
ALD
|
[NCBI]
|
2.11009e-06
|
|
|
LCAT
|
[NCBI]
|
1.84933e-06
|
|
|
TH
|
[NCBI]
|
1.6093e-06
|
|
|
VIP
|
[NCBI]
|
1.18023e-06
|
|
|
IL2
|
[NCBI]
|
9.88086e-07
|
|
|
SOD2
|
[NCBI]
|
9.71301e-07
|
|
|
HGF
|
[NCBI]
|
8.43305e-07
|
|
|
PYY
|
[NCBI]
|
7.9327e-07
|
|
|
FRAP1
|
[NCBI]
|
5.4427e-07
|
|
|
PWS
|
[NCBI]
|
4.49002e-07
|
|
|
EGF
|
[NCBI]
|
4.35173e-07
|
|
|
ACHE
|
[NCBI]
|
1.00094e-07
|
|
|
PPARA
|
[NCBI]
|
7.53065e-08
|
|
|
GNRH1
|
[NCBI]
|
5.21135e-08
|
|
|
PRL
|
[NCBI]
|
4.91916e-08
|
|
|
GFAP
|
[NCBI]
|
1.10811e-08
|
|
|
EPO
|
[NCBI]
|
1.00986e-08
|
|
|
NPY
|
[NCBI]
|
5.78023e-09
|
|
|
FMF
|
[NCBI]
|
5.71331e-11
|
|