|
OMIM |
Link |
Information gain |
01 |
|
PSAP
|
[NCBI]
|
0.00121625
|
|
|
metachromatic leukodystrophy due to saposin b deficiency
|
[NCBI]
|
0.000796619
|
|
|
gaucher disease, atypical, due to saposin c deficiency
|
[NCBI]
|
0.000474396
|
|
|
combined saposin deficiency
|
[NCBI]
|
0.000343514
|
|
|
gangliosidosis, gm2, juvenile, a(m)b variant
|
[NCBI]
|
0.000192635
|
|
|
mucolipidosis ii
|
[NCBI]
|
8.11583e-05
|
|
|
krabbe disease
|
[NCBI]
|
6.81001e-05
|
|
|
tay-sachs disease, ab variant
|
[NCBI]
|
5.97774e-05
|
|
|
TSD
|
[NCBI]
|
5.21686e-05
|
|
|
CD1B
|
[NCBI]
|
3.26277e-05
|
|
|
SRF
|
[NCBI]
|
2.73888e-05
|
|
|
CD1D
|
[NCBI]
|
2.73271e-05
|
|
|
GLA
|
[NCBI]
|
2.27188e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
2.17802e-05
|
|
|
TLR4
|
[NCBI]
|
8.70646e-06
|
|
|
CNTF
|
[NCBI]
|
7.20756e-06
|
|
|
CHAT
|
[NCBI]
|
2.90505e-06
|
|