|
OMIM |
Link |
Information gain |
01 |
|
metachromatic leukodystrophy
|
[NCBI]
|
0.00594454
|
|
|
ARSA
|
[NCBI]
|
0.0029575
|
|
|
DYT2
|
[NCBI]
|
0.00254657
|
|
|
metachromatic leukodystrophy due to saposin b deficiency
|
[NCBI]
|
0.00091338
|
|
|
MSD
|
[NCBI]
|
0.000807146
|
|
|
mucolipidosis ii
|
[NCBI]
|
0.000211379
|
|
|
metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a
|
[NCBI]
|
0.000155954
|
|
|
LGMD2A
|
[NCBI]
|
0.000145469
|
|
|
chromosome 22q13.3 deletion syndrome
|
[NCBI]
|
9.44702e-05
|
|
|
methemoglobinemia due to deficiency of methemoglobin reductase
|
[NCBI]
|
6.62891e-05
|
|
|
niemann-pick disease, type b
|
[NCBI]
|
6.27477e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
5.91149e-05
|
|
|
hurler syndrome
|
[NCBI]
|
4.92547e-05
|
|
|
ARSB
|
[NCBI]
|
4.71048e-05
|
|
|
CAPN3
|
[NCBI]
|
4.71048e-05
|
|
|
krabbe disease
|
[NCBI]
|
3.31318e-05
|
|
|
TSN
|
[NCBI]
|
2.81627e-05
|
|
|
SHANK3
|
[NCBI]
|
2.73966e-05
|
|
|
CTSD
|
[NCBI]
|
2.17756e-05
|
|
|
GAL3ST1
|
[NCBI]
|
2.15337e-05
|
|
|
tay-sachs disease, ab variant
|
[NCBI]
|
2.15337e-05
|
|
|
TSD
|
[NCBI]
|
1.90129e-05
|
|
|
CYP17A1
|
[NCBI]
|
1.74613e-05
|
|
|
CTSL
|
[NCBI]
|
1.67503e-05
|
|
|
PSAP
|
[NCBI]
|
1.65639e-05
|
|
|
GUSB
|
[NCBI]
|
1.30104e-05
|
|
|
PWS
|
[NCBI]
|
7.52009e-06
|
|
|
EGF
|
[NCBI]
|
6.24122e-06
|
|
|
ADA
|
[NCBI]
|
1.76517e-06
|
|
|
MBP
|
[NCBI]
|
1.91752e-07
|
|