|
OMIM |
Link |
Information gain |
01 |
|
TSD
|
[NCBI]
|
0.00488267
|
|
|
gangliosidosis, gm2, type iii, or juvenile type
|
[NCBI]
|
0.00383223
|
|
|
sandhoff disease
|
[NCBI]
|
0.00226702
|
|
|
CHR
|
[NCBI]
|
0.00188466
|
|
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
0.00168774
|
|
|
mannose 6-phosphate receptor recognition defect, lebanese type
|
[NCBI]
|
0.00168774
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
0.00127375
|
|
|
mucolipidosis ii
|
[NCBI]
|
0.00105583
|
|
|
schindler disease, type i
|
[NCBI]
|
0.000978192
|
|
|
mucopolysaccharidosis type iiib
|
[NCBI]
|
0.000920634
|
|
|
kanzaki disease
|
[NCBI]
|
0.000909553
|
|
|
GPS
|
[NCBI]
|
0.00086774
|
|
|
HEXB
|
[NCBI]
|
0.000529844
|
|
|
HEXA
|
[NCBI]
|
0.000468015
|
|
|
RA
|
[NCBI]
|
0.000459295
|
|
|
NAGA
|
[NCBI]
|
0.000453587
|
|
|
CHIT1
|
[NCBI]
|
0.000311679
|
|
|
mucopolysaccharidosis type iiia
|
[NCBI]
|
0.000219492
|
|
|
gaucher disease, type iii
|
[NCBI]
|
0.000213217
|
|
|
fabry disease
|
[NCBI]
|
0.000177402
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
0.000177258
|
|
|
mucolipidosis iii, complementation group c
|
[NCBI]
|
0.000170371
|
|
|
gaucher disease, type i
|
[NCBI]
|
0.000148533
|
|
|
gm1-gangliosidosis, type ii
|
[NCBI]
|
0.00014842
|
|
|
gangliosidosis, gm2, juvenile, a(m)b variant
|
[NCBI]
|
0.000139249
|
|
|
mucolipidosis iiia
|
[NCBI]
|
0.000139091
|
|
|
CF
|
[NCBI]
|
0.000131256
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
0.000111122
|
|
|
amish infantile epilepsy syndrome
|
[NCBI]
|
0.000107708
|
|
|
tay-sachs disease, ab variant
|
[NCBI]
|
0.000107046
|
|
|
HEXC
|
[NCBI]
|
8.18684e-05
|
|
|
glycogen storage disease 0, liver
|
[NCBI]
|
7.41307e-05
|
|
|
SCZD1
|
[NCBI]
|
6.81091e-05
|
|
|
krabbe disease
|
[NCBI]
|
6.49757e-05
|
|
|
mucopolysaccharidosis type iiic
|
[NCBI]
|
5.95153e-05
|
|
|
CHIA
|
[NCBI]
|
5.20094e-05
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
5.11529e-05
|
|
|
NAGLU
|
[NCBI]
|
5.03603e-05
|
|
|
MPI
|
[NCBI]
|
4.89331e-05
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
4.86419e-05
|
|
|
niemann-pick disease, type b
|
[NCBI]
|
4.66211e-05
|
|
|
MAN2B1
|
[NCBI]
|
4.6551e-05
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
4.22999e-05
|
|
|
CD300LB
|
[NCBI]
|
4.09135e-05
|
|
|
MSD
|
[NCBI]
|
3.5187e-05
|
|
|
MAN2C1
|
[NCBI]
|
3.34925e-05
|
|
|
TCOF
|
[NCBI]
|
3.21893e-05
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
3.07335e-05
|
|
|
LARS
|
[NCBI]
|
3.06931e-05
|
|
|
B4GALNT1
|
[NCBI]
|
2.88761e-05
|
|
|
GCS1
|
[NCBI]
|
2.88761e-05
|
|
|
NCR1
|
[NCBI]
|
2.88761e-05
|
|
|
TRDN
|
[NCBI]
|
2.88761e-05
|
|
|
HGSNAT
|
[NCBI]
|
2.75256e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
2.73543e-05
|
|
|
MGEA5
|
[NCBI]
|
2.55558e-05
|
|
|
HSPA5
|
[NCBI]
|
2.47908e-05
|
|
|
PSACH
|
[NCBI]
|
2.47405e-05
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
2.44404e-05
|
|
|
ACO2
|
[NCBI]
|
2.29947e-05
|
|
|
PKM2
|
[NCBI]
|
2.20656e-05
|
|
|
IDH1
|
[NCBI]
|
2.16558e-05
|
|
|
RPS14
|
[NCBI]
|
2.02759e-05
|
|
|
CCL18
|
[NCBI]
|
1.99809e-05
|
|
|
PGM3
|
[NCBI]
|
1.97015e-05
|
|
|
TCOF1
|
[NCBI]
|
1.94362e-05
|
|
|
HBEGF
|
[NCBI]
|
1.84918e-05
|
|
|
GZMB
|
[NCBI]
|
1.78808e-05
|
|
|
ARSB
|
[NCBI]
|
1.71638e-05
|
|
|
DDOST
|
[NCBI]
|
1.68393e-05
|
|
|
BACE1
|
[NCBI]
|
1.63876e-05
|
|
|
PHEX
|
[NCBI]
|
1.62455e-05
|
|
|
FN1
|
[NCBI]
|
1.61071e-05
|
|
|
GLA
|
[NCBI]
|
1.5713e-05
|
|
|
GAA
|
[NCBI]
|
1.5713e-05
|
|
|
fucosidosis
|
[NCBI]
|
1.5466e-05
|
|
|
CTSL
|
[NCBI]
|
1.41922e-05
|
|
|
JAK3
|
[NCBI]
|
1.28049e-05
|
|
|
ARSA
|
[NCBI]
|
1.27341e-05
|
|
|
protein c deficiency, congenital thrombotic disease due to
|
[NCBI]
|
1.27341e-05
|
|
|
ADA
|
[NCBI]
|
1.23403e-05
|
|
|
LCT
|
[NCBI]
|
1.13884e-05
|
|
|
GUSB
|
[NCBI]
|
1.05099e-05
|
|
|
PAM
|
[NCBI]
|
9.80612e-06
|
|
|
LPO
|
[NCBI]
|
9.09388e-06
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
8.11806e-06
|
|
|
TNF
|
[NCBI]
|
7.68941e-06
|
|
|
PLTP
|
[NCBI]
|
7.16362e-06
|
|
|
COMP
|
[NCBI]
|
6.56616e-06
|
|
|
LPL
|
[NCBI]
|
5.79583e-06
|
|
|
PRL
|
[NCBI]
|
5.41163e-06
|
|
|
LRP1
|
[NCBI]
|
5.05489e-06
|
|
|
G6PD
|
[NCBI]
|
4.95353e-06
|
|
|
TG
|
[NCBI]
|
4.57691e-06
|
|
|
TPO
|
[NCBI]
|
3.88305e-06
|
|
|
CEACAM5
|
[NCBI]
|
3.67751e-06
|
|
|
ACP5
|
[NCBI]
|
2.6614e-06
|
|
|
ALB
|
[NCBI]
|
2.56813e-06
|
|
|
ACHE
|
[NCBI]
|
2.07115e-06
|
|
|
POMC
|
[NCBI]
|
1.53475e-06
|
|
|
CCK
|
[NCBI]
|
1.18491e-06
|
|
|
EGF
|
[NCBI]
|
1.13787e-06
|
|
|
APOB
|
[NCBI]
|
1.07484e-06
|
|
|
PPARA
|
[NCBI]
|
1.0537e-06
|
|
|
EPO
|
[NCBI]
|
9.42365e-07
|
|
|
MPO
|
[NCBI]
|
5.01532e-07
|
|
|
AFP
|
[NCBI]
|
2.62605e-07
|
|