|
OMIM |
Link |
Information gain |
01 |
|
myopathy, autophagic vacuolar, infantile-onset
|
[NCBI]
|
0.00354984
|
|
|
infantile sialic acid storage disorder
|
[NCBI]
|
0.00096145
|
|
|
sialuria, finnish type
|
[NCBI]
|
0.000947128
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
0.000877232
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
0.000764597
|
|
|
SLC17A5
|
[NCBI]
|
0.000367749
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
0.000357575
|
|
|
neuraminidase deficiency
|
[NCBI]
|
0.000351737
|
|
|
danon disease
|
[NCBI]
|
0.000332987
|
|
|
LAMP2
|
[NCBI]
|
0.000316343
|
|
|
GUSB
|
[NCBI]
|
0.000242619
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
0.000231737
|
|
|
MSD
|
[NCBI]
|
0.000206509
|
|
|
HPS1
|
[NCBI]
|
0.000163615
|
|
|
HPS
|
[NCBI]
|
0.000132231
|
|
|
TSD
|
[NCBI]
|
0.000121455
|
|
|
NEU1
|
[NCBI]
|
9.81809e-05
|
|
|
NPC1
|
[NCBI]
|
9.78797e-05
|
|
|
krabbe disease
|
[NCBI]
|
8.20464e-05
|
|
|
CLCN6
|
[NCBI]
|
7.67296e-05
|
|
|
CHS
|
[NCBI]
|
6.66327e-05
|
|
|
IDUA
|
[NCBI]
|
6.3628e-05
|
|
|
ACP2
|
[NCBI]
|
6.29532e-05
|
|
|
mannosidosis, beta a, lysosomal
|
[NCBI]
|
6.26967e-05
|
|
|
pycnodysostosis
|
[NCBI]
|
6.07448e-05
|
|
|
canavan disease
|
[NCBI]
|
5.53454e-05
|
|
|
CD63
|
[NCBI]
|
5.43827e-05
|
|
|
CHIT1
|
[NCBI]
|
5.43827e-05
|
|
|
DFNB1
|
[NCBI]
|
5.34967e-05
|
|
|
MANBA
|
[NCBI]
|
5.18754e-05
|
|
|
CTSE
|
[NCBI]
|
5.18754e-05
|
|
|
LAMP1
|
[NCBI]
|
5.18754e-05
|
|
|
gaucher disease, type iii
|
[NCBI]
|
5.18422e-05
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
5.13272e-05
|
|
|
mucolipidosis iv
|
[NCBI]
|
5.13272e-05
|
|
|
glycogen storage disease vii
|
[NCBI]
|
5.03452e-05
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
4.89789e-05
|
|
|
CLN2
|
[NCBI]
|
4.8218e-05
|
|
|
cystinuria
|
[NCBI]
|
4.81301e-05
|
|
|
HHF1
|
[NCBI]
|
4.58303e-05
|
|
|
HSAN3
|
[NCBI]
|
4.47967e-05
|
|
|
CLN3
|
[NCBI]
|
4.35181e-05
|
|
|
DYT1
|
[NCBI]
|
4.32144e-05
|
|
|
mucolipidosis ii
|
[NCBI]
|
4.23376e-05
|
|
|
CCL18
|
[NCBI]
|
4.09756e-05
|
|
|
RSTS
|
[NCBI]
|
4.07216e-05
|
|
|
hurler syndrome
|
[NCBI]
|
3.97322e-05
|
|
|
CTSK
|
[NCBI]
|
3.84125e-05
|
|
|
BLM
|
[NCBI]
|
3.75091e-05
|
|
|
gaucher disease, type i
|
[NCBI]
|
3.69015e-05
|
|
|
NPC1
|
[NCBI]
|
3.32733e-05
|
|
|
hypercholesterolemia, autosomal dominant
|
[NCBI]
|
3.29206e-05
|
|
|
pta deficiency
|
[NCBI]
|
3.23236e-05
|
|
|
GLB1
|
[NCBI]
|
3.20267e-05
|
|
|
FANCC
|
[NCBI]
|
3.1459e-05
|
|
|
PSAP
|
[NCBI]
|
3.11872e-05
|
|
|
PPT1
|
[NCBI]
|
3.09229e-05
|
|
|
BRCA2
|
[NCBI]
|
1.94516e-05
|
|
|
GJB2
|
[NCBI]
|
1.7009e-05
|
|
|
BRCA1
|
[NCBI]
|
1.48381e-05
|
|
|
ALD
|
[NCBI]
|
1.22924e-05
|
|
|
SOD2
|
[NCBI]
|
9.48216e-06
|
|
|
CF
|
[NCBI]
|
4.59736e-06
|
|
|
APC
|
[NCBI]
|
1.95536e-06
|
|
|
MBP
|
[NCBI]
|
5.36454e-07
|
|
|
GFAP
|
[NCBI]
|
3.80929e-09
|
|