|
OMIM |
Link |
Information gain |
01 |
|
GCDH
|
[NCBI]
|
0.000297368
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
0.00027669
|
|
|
glutaric acidemia i
|
[NCBI]
|
0.000270779
|
|
|
GAMT
|
[NCBI]
|
0.000156707
|
|
|
GLUL
|
[NCBI]
|
0.000142496
|
|
|
glutamine deficiency, congenital
|
[NCBI]
|
0.000134271
|
|
|
CDG1E
|
[NCBI]
|
0.000111802
|
|
|
aminoacylase 1 deficiency
|
[NCBI]
|
0.000103324
|
|
|
encephalopathy, ethylmalonic
|
[NCBI]
|
9.04679e-05
|
|
|
SANDO
|
[NCBI]
|
8.77575e-05
|
|
|
adenylosuccinase deficiency
|
[NCBI]
|
8.54378e-05
|
|
|
creatine deficiency syndrome, x-linked
|
[NCBI]
|
8.54378e-05
|
|
|
l-2-hydroxyglutaric aciduria
|
[NCBI]
|
8.54378e-05
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
7.71694e-05
|
|
|
molybdenum cofactor deficiency
|
[NCBI]
|
7.36928e-05
|
|
|
succinic semialdehyde dehydrogenase deficiency
|
[NCBI]
|
7.2683e-05
|
|
|
SUOX
|
[NCBI]
|
7.10704e-05
|
|
|
NDUFA12L
|
[NCBI]
|
7.10704e-05
|
|
|
ADHFE1
|
[NCBI]
|
7.10704e-05
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
6.91794e-05
|
|
|
NBIA1
|
[NCBI]
|
6.76781e-05
|
|
|
methylmalonic aciduria and homocystinuria, cblc type
|
[NCBI]
|
6.76781e-05
|
|
|
DPM1
|
[NCBI]
|
6.58708e-05
|
|
|
MLC
|
[NCBI]
|
6.56608e-05
|
|
|
mitochondrial complex i deficiency
|
[NCBI]
|
6.44447e-05
|
|
|
SLC25A15
|
[NCBI]
|
5.99851e-05
|
|
|
ACY1
|
[NCBI]
|
5.63228e-05
|
|
|
AUH
|
[NCBI]
|
5.63228e-05
|
|
|
NAGS
|
[NCBI]
|
5.63228e-05
|
|
|
MLC1
|
[NCBI]
|
5.36558e-05
|
|
|
MTTI
|
[NCBI]
|
5.25509e-05
|
|
|
SLC6A8
|
[NCBI]
|
4.83544e-05
|
|
|
SLC2A1
|
[NCBI]
|
4.70733e-05
|
|
|
LS
|
[NCBI]
|
4.50407e-05
|
|
|
3-@hydroxy-3-methylglutaryl-coa lyase deficiency
|
[NCBI]
|
4.49227e-05
|
|
|
PANK2
|
[NCBI]
|
4.4001e-05
|
|
|
ACADS
|
[NCBI]
|
4.35705e-05
|
|
|
POLG
|
[NCBI]
|
3.86915e-05
|
|
|
STAT1
|
[NCBI]
|
3.39211e-05
|
|
|
MECP2
|
[NCBI]
|
2.68828e-05
|
|
|
TF
|
[NCBI]
|
1.66487e-05
|
|
|
CAT
|
[NCBI]
|
7.07485e-06
|
|
|
TH
|
[NCBI]
|
6.24868e-06
|
|
|
GFAP
|
[NCBI]
|
2.72789e-06
|
|