|
OMIM |
Link |
Information gain |
01 |
|
SRS
|
[NCBI]
|
0.000951538
|
|
|
mucopolysaccharidosis type iiia
|
[NCBI]
|
0.000218414
|
|
|
infantile sialic acid storage disorder
|
[NCBI]
|
0.000200515
|
|
|
SLOS
|
[NCBI]
|
0.000197315
|
|
|
CTNS
|
[NCBI]
|
0.000172979
|
|
|
LNS
|
[NCBI]
|
0.000154743
|
|
|
SLS
|
[NCBI]
|
0.000152575
|
|
|
RA
|
[NCBI]
|
0.000128957
|
|
|
carnitine palmitoyltransferase ii deficiency, lethal neonatal
|
[NCBI]
|
0.000119495
|
|
|
krabbe disease
|
[NCBI]
|
0.000113691
|
|
|
succinyl-coa:3-oxoacid coa transferase deficiency
|
[NCBI]
|
0.000107222
|
|
|
molybdenum cofactor deficiency
|
[NCBI]
|
0.000104096
|
|
|
AFP
|
[NCBI]
|
0.000103223
|
|
|
mucopolysaccharidosis type iiic
|
[NCBI]
|
9.6398e-05
|
|
|
propionic acidemia
|
[NCBI]
|
9.6398e-05
|
|
|
mucopolysaccharidosis type iiib
|
[NCBI]
|
9.42443e-05
|
|
|
GCE
|
[NCBI]
|
9.42443e-05
|
|
|
glutaric acidemia i
|
[NCBI]
|
8.70004e-05
|
|
|
OCRL
|
[NCBI]
|
8.39894e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
8.12782e-05
|
|
|
sialuria, finnish type
|
[NCBI]
|
8.00177e-05
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
8.00177e-05
|
|
|
glycogen storage disease iv
|
[NCBI]
|
7.88133e-05
|
|
|
BWS
|
[NCBI]
|
7.85286e-05
|
|
|
hurler syndrome
|
[NCBI]
|
6.52432e-05
|
|
|
VEGF
|
[NCBI]
|
5.94796e-05
|
|
|
ALDH3A2
|
[NCBI]
|
5.91461e-05
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
5.84289e-05
|
|
|
TFPI2
|
[NCBI]
|
5.56944e-05
|
|
|
mucolipidosis ii
|
[NCBI]
|
5.53544e-05
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
5.48763e-05
|
|
|
IGF2AS
|
[NCBI]
|
5.39673e-05
|
|
|
LAMC3
|
[NCBI]
|
5.39673e-05
|
|
|
glycogen storage disease ii
|
[NCBI]
|
5.05378e-05
|
|
|
BYSL
|
[NCBI]
|
4.02233e-05
|
|
|
TSD
|
[NCBI]
|
3.85493e-05
|
|
|
CLN2
|
[NCBI]
|
3.77802e-05
|
|
|
TROAP
|
[NCBI]
|
3.77802e-05
|
|
|
CSH2
|
[NCBI]
|
3.77802e-05
|
|
|
CSHL1
|
[NCBI]
|
3.77802e-05
|
|
|
PC
|
[NCBI]
|
3.73641e-05
|
|
|
TRO
|
[NCBI]
|
3.59645e-05
|
|
|
DMD
|
[NCBI]
|
3.30331e-05
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
3.26612e-05
|
|
|
INSL4
|
[NCBI]
|
3.13895e-05
|
|
|
GH2
|
[NCBI]
|
3.13895e-05
|
|
|
CSH1
|
[NCBI]
|
2.98743e-05
|
|
|
GNB3
|
[NCBI]
|
2.98743e-05
|
|
|
MJD
|
[NCBI]
|
2.92643e-05
|
|
|
PZP
|
[NCBI]
|
2.86258e-05
|
|
|
PCCB
|
[NCBI]
|
2.66416e-05
|
|
|
FSTL3
|
[NCBI]
|
2.44314e-05
|
|
|
CPD
|
[NCBI]
|
2.44314e-05
|
|
|
mucopolysaccharidosis type iva
|
[NCBI]
|
2.35418e-05
|
|
|
FGF4
|
[NCBI]
|
2.35418e-05
|
|
|
MTR
|
[NCBI]
|
2.27527e-05
|
|
|
TFPI
|
[NCBI]
|
2.25654e-05
|
|
|
FANCC
|
[NCBI]
|
2.20438e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
2.18227e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
1.99306e-05
|
|
|
PROCR
|
[NCBI]
|
1.97671e-05
|
|
|
AT
|
[NCBI]
|
1.97082e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
1.96074e-05
|
|
|
SLC6A6
|
[NCBI]
|
1.94513e-05
|
|
|
COL1A2
|
[NCBI]
|
1.92987e-05
|
|
|
PCNA
|
[NCBI]
|
1.90991e-05
|
|
|
TFRC
|
[NCBI]
|
1.88605e-05
|
|
|
AS
|
[NCBI]
|
1.8443e-05
|
|
|
ENPEP
|
[NCBI]
|
1.79358e-05
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
1.72329e-05
|
|
|
TLR4
|
[NCBI]
|
1.63724e-05
|
|
|
FGF7
|
[NCBI]
|
1.63468e-05
|
|
|
ACADM
|
[NCBI]
|
1.58332e-05
|
|
|
hla-d histocompatibility type
|
[NCBI]
|
1.5301e-05
|
|
|
CPE
|
[NCBI]
|
1.46787e-05
|
|
|
HPRT1
|
[NCBI]
|
1.42404e-05
|
|
|
FGFR2
|
[NCBI]
|
1.40319e-05
|
|
|
ALD
|
[NCBI]
|
1.36314e-05
|
|
|
LEP
|
[NCBI]
|
1.34442e-05
|
|
|
DMD
|
[NCBI]
|
1.19027e-05
|
|
|
CDK4
|
[NCBI]
|
1.16636e-05
|
|
|
SLC2A4
|
[NCBI]
|
1.11253e-05
|
|
|
GHR
|
[NCBI]
|
9.95954e-06
|
|
|
BCHE
|
[NCBI]
|
9.7518e-06
|
|
|
APRT
|
[NCBI]
|
9.7179e-06
|
|
|
ILK
|
[NCBI]
|
9.29442e-06
|
|
|
PGR
|
[NCBI]
|
9.20102e-06
|
|
|
G6PD
|
[NCBI]
|
9.13009e-06
|
|
|
PWS
|
[NCBI]
|
7.95325e-06
|
|
|
ADM
|
[NCBI]
|
7.9365e-06
|
|
|
FA
|
[NCBI]
|
7.80105e-06
|
|
|
RASA1
|
[NCBI]
|
7.69675e-06
|
|
|
SLC6A4
|
[NCBI]
|
7.09959e-06
|
|
|
SDC2
|
[NCBI]
|
7.05801e-06
|
|
|
PF4
|
[NCBI]
|
5.91708e-06
|
|
|
HD
|
[NCBI]
|
5.42096e-06
|
|
|
SOD2
|
[NCBI]
|
4.30345e-06
|
|
|
PRL
|
[NCBI]
|
3.70304e-06
|
|
|
EGF
|
[NCBI]
|
3.31741e-06
|
|
|
PTHLH
|
[NCBI]
|
3.25318e-06
|
|
|
FRAP1
|
[NCBI]
|
3.16203e-06
|
|
|
ACP5
|
[NCBI]
|
3.13761e-06
|
|
|
GAPDH
|
[NCBI]
|
2.65754e-06
|
|
|
CEACAM5
|
[NCBI]
|
2.47068e-06
|
|
|
ACHE
|
[NCBI]
|
2.11094e-06
|
|
|
SPP1
|
[NCBI]
|
1.53573e-06
|
|
|
VIP
|
[NCBI]
|
1.34802e-06
|
|
|
CF
|
[NCBI]
|
1.2664e-06
|
|
|
ADA
|
[NCBI]
|
1.07114e-06
|
|
|
SLE
|
[NCBI]
|
1.00002e-06
|
|
|
TNF
|
[NCBI]
|
5.81499e-07
|
|
|
PTK2
|
[NCBI]
|
5.34471e-07
|
|
|
MPO
|
[NCBI]
|
3.69166e-07
|
|
|
TNFSF6
|
[NCBI]
|
3.10794e-07
|
|
|
CRH
|
[NCBI]
|
2.08579e-07
|
|
|
HGF
|
[NCBI]
|
2.02281e-07
|
|
|
CHAT
|
[NCBI]
|
1.40898e-07
|
|