|
OMIM |
Link |
Information gain |
01 |
|
mucolipidosis ii
|
[NCBI]
|
0.00380437
|
|
|
mucolipidosis iv
|
[NCBI]
|
0.00290719
|
|
|
mannose 6-phosphate receptor recognition defect, lebanese type
|
[NCBI]
|
0.00159179
|
|
|
mucolipidosis iiia
|
[NCBI]
|
0.00154767
|
|
|
neuraminidase deficiency
|
[NCBI]
|
0.00153051
|
|
|
MCOLN1
|
[NCBI]
|
0.00124989
|
|
|
mucolipidosis iii, complementation group c
|
[NCBI]
|
0.000873182
|
|
|
NEU1
|
[NCBI]
|
0.000572094
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
0.000385125
|
|
|
GNPTAB
|
[NCBI]
|
0.000244819
|
|
|
hurler syndrome
|
[NCBI]
|
0.000191954
|
|
|
GNPTG
|
[NCBI]
|
0.00016296
|
|
|
nephrosialidosis
|
[NCBI]
|
0.000149595
|
|
|
CTSD
|
[NCBI]
|
0.000105916
|
|
|
niemann-pick disease, type c2
|
[NCBI]
|
6.21996e-05
|
|
|
NSHPT
|
[NCBI]
|
5.17066e-05
|
|
|
scheie syndrome
|
[NCBI]
|
4.63494e-05
|
|
|
SLC17A5
|
[NCBI]
|
4.55804e-05
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
4.38435e-05
|
|
|
MTND5
|
[NCBI]
|
4.14457e-05
|
|
|
infantile sialic acid storage disorder
|
[NCBI]
|
3.98005e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
3.75231e-05
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
3.70977e-05
|
|
|
PPT1
|
[NCBI]
|
3.54883e-05
|
|
|
PNPLA6
|
[NCBI]
|
2.63546e-05
|
|
|
NPC1
|
[NCBI]
|
2.39976e-05
|
|
|
gaucher disease, type i
|
[NCBI]
|
2.32293e-05
|
|
|
BBS
|
[NCBI]
|
1.63414e-05
|
|
|
TNF
|
[NCBI]
|
2.82738e-06
|
|