|
OMIM |
Link |
Information gain |
01 |
|
MSD
|
[NCBI]
|
0.000811073
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
0.000288037
|
|
|
PSAP
|
[NCBI]
|
0.000251502
|
|
|
SUMF1
|
[NCBI]
|
0.000248246
|
|
|
combined saposin deficiency
|
[NCBI]
|
0.00024142
|
|
|
sulfatase-modifying factor 2
|
[NCBI]
|
0.000186918
|
|
|
gm1-gangliosidosis, type ii
|
[NCBI]
|
0.000179338
|
|
|
NPC1
|
[NCBI]
|
0.000123134
|
|
|
amish infantile epilepsy syndrome
|
[NCBI]
|
0.000113311
|
|
|
gaucher disease, atypical, due to saposin c deficiency
|
[NCBI]
|
8.92647e-05
|
|
|
metachromatic leukodystrophy due to saposin b deficiency
|
[NCBI]
|
8.14952e-05
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
7.06814e-05
|
|
|
sandhoff disease
|
[NCBI]
|
5.85682e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
5.55524e-05
|
|
|
RSTS
|
[NCBI]
|
5.30203e-05
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
4.97465e-05
|
|
|
NPC1
|
[NCBI]
|
4.94846e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
4.58656e-05
|
|
|
fabry disease
|
[NCBI]
|
4.25959e-05
|
|
|
PMD
|
[NCBI]
|
4.08367e-05
|
|
|
TSD
|
[NCBI]
|
3.50008e-05
|
|