|
OMIM |
Link |
Information gain |
01 |
|
metachromatic leukodystrophy
|
[NCBI]
|
0.00539992
|
|
|
ARSA
|
[NCBI]
|
0.00499641
|
|
|
metachromatic leukodystrophy due to saposin b deficiency
|
[NCBI]
|
0.00124758
|
|
|
DYT2
|
[NCBI]
|
0.00102539
|
|
|
MSD
|
[NCBI]
|
0.000799599
|
|
|
PSAP
|
[NCBI]
|
0.000290953
|
|
|
krabbe disease
|
[NCBI]
|
0.00029061
|
|
|
ALD
|
[NCBI]
|
0.000172547
|
|
|
metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a
|
[NCBI]
|
0.00011244
|
|
|
LGMD2A
|
[NCBI]
|
9.94846e-05
|
|
|
CAPN3
|
[NCBI]
|
7.78246e-05
|
|
|
PMD
|
[NCBI]
|
5.88449e-05
|
|
|
GAL3ST1
|
[NCBI]
|
4.11363e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
3.98232e-05
|
|
|
CTSD
|
[NCBI]
|
3.95517e-05
|
|
|
tay-sachs disease, ab variant
|
[NCBI]
|
3.69913e-05
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
3.28379e-05
|
|
|
CYP17A1
|
[NCBI]
|
3.03292e-05
|
|
|
TTR
|
[NCBI]
|
5.04099e-06
|
|
|
MBP
|
[NCBI]
|
1.92322e-07
|
|