|
OMIM |
Link |
Information gain |
01 |
|
gaucher disease, type i
|
[NCBI]
|
0.00790243
|
|
|
GBA
|
[NCBI]
|
0.00598298
|
|
|
gaucher disease, type iii
|
[NCBI]
|
0.00327241
|
|
|
gaucher disease, type ii
|
[NCBI]
|
0.00140382
|
|
|
gaucher disease, perinatal lethal
|
[NCBI]
|
0.00114786
|
|
|
ocular motor apraxia
|
[NCBI]
|
0.00111789
|
|
|
gaucher disease, type iiic
|
[NCBI]
|
0.000833436
|
|
|
PSAP
|
[NCBI]
|
0.000750033
|
|
|
gaucher disease, atypical, due to saposin c deficiency
|
[NCBI]
|
0.00072886
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
0.000374741
|
|
|
SLE
|
[NCBI]
|
0.000242719
|
|
|
niemann-pick disease, type b
|
[NCBI]
|
0.000238187
|
|
|
MTX1
|
[NCBI]
|
0.000211551
|
|
|
CHIT1
|
[NCBI]
|
0.000189199
|
|
|
CF
|
[NCBI]
|
0.00012242
|
|
|
TSD
|
[NCBI]
|
0.000105265
|
|
|
CCL18
|
[NCBI]
|
8.39741e-05
|
|
|
combined saposin deficiency
|
[NCBI]
|
7.28876e-05
|
|
|
THBS3
|
[NCBI]
|
7.04346e-05
|
|
|
SCAMP3
|
[NCBI]
|
7.04346e-05
|
|
|
PKLR
|
[NCBI]
|
6.68282e-05
|
|
|
ACP5
|
[NCBI]
|
6.39772e-05
|
|
|
tuftsin deficiency
|
[NCBI]
|
6.33369e-05
|
|
|
wolman disease
|
[NCBI]
|
6.04198e-05
|
|
|
sea-blue histiocyte disease
|
[NCBI]
|
4.97351e-05
|
|
|
metachromatic leukodystrophy due to saposin b deficiency
|
[NCBI]
|
4.97351e-05
|
|
|
VWM
|
[NCBI]
|
3.57484e-05
|
|
|
glycogen storage disease iv
|
[NCBI]
|
3.34932e-05
|
|
|
TNF
|
[NCBI]
|
3.07836e-05
|
|
|
UGCG
|
[NCBI]
|
3.01703e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
2.47652e-05
|
|
|
NPC1
|
[NCBI]
|
1.96816e-05
|
|
|
fabry disease
|
[NCBI]
|
1.33383e-05
|
|
|
MBL2
|
[NCBI]
|
8.01648e-06
|
|
|
DHFR
|
[NCBI]
|
2.88238e-06
|
|
|
PD
|
[NCBI]
|
1.79005e-06
|
|
|
TNFRSF11B
|
[NCBI]
|
1.75259e-06
|
|
|
ALD
|
[NCBI]
|
8.67655e-07
|
|
|
ADA
|
[NCBI]
|
6.45449e-07
|
|
|
APOE
|
[NCBI]
|
3.70531e-07
|
|
|
G6PD
|
[NCBI]
|
1.42671e-07
|
|
|
CFTR
|
[NCBI]
|
2.66217e-08
|
|
|
CAT
|
[NCBI]
|
5.97474e-09
|
|