|
OMIM |
Link |
Information gain |
01 |
|
gangliosidosis, gm2, type iii, or juvenile type
|
[NCBI]
|
0.00252968
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
0.00135811
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
0.00122575
|
|
|
TSD
|
[NCBI]
|
0.00106559
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
0.000687191
|
|
|
GLB1
|
[NCBI]
|
0.000562611
|
|
|
tay-sachs disease, ab variant
|
[NCBI]
|
0.000467568
|
|
|
sandhoff disease
|
[NCBI]
|
0.00044043
|
|
|
neuraminidase deficiency
|
[NCBI]
|
0.000334681
|
|
|
gm1-gangliosidosis, type ii
|
[NCBI]
|
0.000242878
|
|
|
HEXA
|
[NCBI]
|
0.0002295
|
|
|
mucolipidosis ii
|
[NCBI]
|
0.00010081
|
|
|
HEXB
|
[NCBI]
|
8.8385e-05
|
|
|
morquio syndrome b
|
[NCBI]
|
6.16586e-05
|
|
|
fucosidosis
|
[NCBI]
|
3.87864e-05
|
|
|
ALD
|
[NCBI]
|
3.80973e-05
|
|
|
krabbe disease
|
[NCBI]
|
2.6977e-05
|
|
|
G6PD
|
[NCBI]
|
6.68094e-06
|
|