|
OMIM |
Link |
Information gain |
01 |
|
krabbe disease
|
[NCBI]
|
0.00155678
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
0.000410425
|
|
|
gaucher disease, type i
|
[NCBI]
|
0.000313945
|
|
|
MBP
|
[NCBI]
|
0.000309809
|
|
|
fabry disease
|
[NCBI]
|
0.000265673
|
|
|
gaucher disease, type ii
|
[NCBI]
|
0.00019318
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
0.000173649
|
|
|
gaucher disease, type iii
|
[NCBI]
|
0.00016733
|
|
|
wolman disease with hypolipoproteinemia and acanthocytosis
|
[NCBI]
|
0.000161681
|
|
|
TSD
|
[NCBI]
|
0.000141133
|
|
|
corpus callosum, partial agenesis of, x-linked
|
[NCBI]
|
0.000130109
|
|
|
NPC1
|
[NCBI]
|
0.000122839
|
|
|
ceroid storage disease
|
[NCBI]
|
0.000118204
|
|
|
OKS
|
[NCBI]
|
0.00010474
|
|
|
GAL3ST1
|
[NCBI]
|
9.54122e-05
|
|
|
PMD
|
[NCBI]
|
9.45366e-05
|
|
|
metachromatic leukodystrophy due to saposin b deficiency
|
[NCBI]
|
8.34499e-05
|
|
|
gm1-gangliosidosis, type ii
|
[NCBI]
|
7.98314e-05
|
|
|
niemann-pick disease, type b
|
[NCBI]
|
6.83559e-05
|
|
|
ALD
|
[NCBI]
|
5.78505e-05
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
5.47601e-05
|
|
|
mucolipidosis ii
|
[NCBI]
|
5.08928e-05
|
|
|
PSAP
|
[NCBI]
|
4.86988e-05
|
|
|
ZS
|
[NCBI]
|
3.63447e-05
|
|
|
FAAH
|
[NCBI]
|
3.39737e-05
|
|
|
CHS
|
[NCBI]
|
2.89696e-05
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
2.82688e-05
|
|
|
CNP
|
[NCBI]
|
2.75302e-05
|
|
|
MAG
|
[NCBI]
|
2.60953e-05
|
|
|
GALC
|
[NCBI]
|
2.46658e-05
|
|
|
SLOS
|
[NCBI]
|
2.46375e-05
|
|
|
TF
|
[NCBI]
|
1.93776e-05
|
|
|
PAM
|
[NCBI]
|
1.6205e-05
|
|
|
phenylketonuria
|
[NCBI]
|
1.363e-05
|
|
|
ALB
|
[NCBI]
|
8.02362e-06
|
|
|
G6PD
|
[NCBI]
|
4.666e-06
|
|
|
CHAT
|
[NCBI]
|
2.5908e-06
|
|
|
AFP
|
[NCBI]
|
1.77669e-06
|
|
|
GFAP
|
[NCBI]
|
1.05618e-06
|
|
|
EGF
|
[NCBI]
|
6.8891e-07
|
|
|
CEACAM5
|
[NCBI]
|
5.50507e-07
|
|