|
OMIM |
Link |
Information gain |
01 |
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
0.00277021
|
|
|
krabbe disease
|
[NCBI]
|
0.00200383
|
|
|
fabry disease
|
[NCBI]
|
0.00192532
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
0.00161959
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
0.001285
|
|
|
gm1-gangliosidosis, type ii
|
[NCBI]
|
0.00127705
|
|
|
lactase persistence
|
[NCBI]
|
0.00106652
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
0.000583485
|
|
|
RA
|
[NCBI]
|
0.000378469
|
|
|
GLB1
|
[NCBI]
|
0.000319432
|
|
|
GLA
|
[NCBI]
|
0.000317957
|
|
|
SLE
|
[NCBI]
|
0.000258648
|
|
|
neuraminidase deficiency
|
[NCBI]
|
0.000256319
|
|
|
morquio syndrome b
|
[NCBI]
|
0.00016138
|
|
|
myoclonus and ataxia
|
[NCBI]
|
0.000145777
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
0.000123867
|
|
|
amish infantile epilepsy syndrome
|
[NCBI]
|
0.000114224
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
0.000112244
|
|
|
lactose intolerance, congenital
|
[NCBI]
|
9.46325e-05
|
|
|
enterokinase deficiency
|
[NCBI]
|
7.7355e-05
|
|
|
mucolipidosis iii, complementation group c
|
[NCBI]
|
7.45368e-05
|
|
|
fucosidosis
|
[NCBI]
|
7.30352e-05
|
|
|
succinyl-coa:3-oxoacid coa transferase deficiency
|
[NCBI]
|
6.77559e-05
|
|
|
LCT
|
[NCBI]
|
6.02707e-05
|
|
|
ACY1
|
[NCBI]
|
5.54161e-05
|
|
|
mucopolysaccharidosis type iiia
|
[NCBI]
|
5.38705e-05
|
|
|
MAN2B1
|
[NCBI]
|
5.2339e-05
|
|
|
CF
|
[NCBI]
|
5.20956e-05
|
|
|
gaucher disease, type iii
|
[NCBI]
|
5.19189e-05
|
|
|
GALC
|
[NCBI]
|
4.95361e-05
|
|
|
PSAP
|
[NCBI]
|
4.11729e-05
|
|
|
hurler syndrome
|
[NCBI]
|
3.96395e-05
|
|
|
mucolipidosis ii
|
[NCBI]
|
3.59251e-05
|
|
|
PRSS7
|
[NCBI]
|
3.04106e-05
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
3.01482e-05
|
|
|
MDH1
|
[NCBI]
|
2.58733e-05
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
2.45312e-05
|
|
|
IDH1
|
[NCBI]
|
2.45312e-05
|
|
|
NAGA
|
[NCBI]
|
2.41498e-05
|
|
|
PGM3
|
[NCBI]
|
2.25703e-05
|
|
|
NEU1
|
[NCBI]
|
2.2304e-05
|
|
|
PIAS1
|
[NCBI]
|
2.11425e-05
|
|
|
ARSB
|
[NCBI]
|
2.00198e-05
|
|
|
glycogen storage disease ixa
|
[NCBI]
|
1.9095e-05
|
|
|
HEXB
|
[NCBI]
|
1.76261e-05
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
1.45142e-05
|
|
|
GUSB
|
[NCBI]
|
1.32778e-05
|
|
|
SI
|
[NCBI]
|
1.30983e-05
|
|
|
TSD
|
[NCBI]
|
1.13187e-05
|
|
|
TERT
|
[NCBI]
|
1.12743e-05
|
|
|
G6PD
|
[NCBI]
|
9.33468e-06
|
|
|
APRT
|
[NCBI]
|
8.56043e-06
|
|
|
PI
|
[NCBI]
|
8.05835e-06
|
|
|
GPI
|
[NCBI]
|
7.49801e-06
|
|
|
EGF
|
[NCBI]
|
5.60558e-06
|
|
|
CTGF
|
[NCBI]
|
5.30546e-06
|
|
|
VEGF
|
[NCBI]
|
4.77425e-06
|
|
|
TF
|
[NCBI]
|
3.21491e-06
|
|
|
NGFB
|
[NCBI]
|
1.88626e-06
|
|
|
CEACAM5
|
[NCBI]
|
1.1012e-06
|
|
|
MBP
|
[NCBI]
|
2.64599e-07
|
|
|
CRH
|
[NCBI]
|
2.47325e-09
|
|
|
GFAP
|
[NCBI]
|
5.23497e-12
|
|
|
EPO
|
[NCBI]
|
2.51505e-13
|
|