|
OMIM |
Link |
Information gain |
01 |
|
mannose 6-phosphate receptor recognition defect, lebanese type
|
[NCBI]
|
0.0020498
|
|
|
PARG
|
[NCBI]
|
0.002045
|
|
|
spondyloenchondrodysplasia
|
[NCBI]
|
0.00192174
|
|
|
gangliosidosis, gm2, type iii, or juvenile type
|
[NCBI]
|
0.00192174
|
|
|
CSID
|
[NCBI]
|
0.00109416
|
|
|
hurler-scheie syndrome
|
[NCBI]
|
0.000529114
|
|
|
hurler syndrome
|
[NCBI]
|
0.000505015
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
0.000404045
|
|
|
mucolipidosis ii
|
[NCBI]
|
0.000377396
|
|
|
mucolipidosis iiia
|
[NCBI]
|
0.000266993
|
|
|
glycogen storage disease iii
|
[NCBI]
|
0.000233216
|
|
|
fabry disease
|
[NCBI]
|
0.000214305
|
|
|
scheie syndrome
|
[NCBI]
|
0.000179238
|
|
|
RA
|
[NCBI]
|
0.000178183
|
|
|
TSD
|
[NCBI]
|
0.000164168
|
|
|
chondrodysplasia calcificans metaphysealis
|
[NCBI]
|
0.000148774
|
|
|
glycogen storage disease iv
|
[NCBI]
|
0.000145725
|
|
|
gaucher disease, type iii
|
[NCBI]
|
0.000141642
|
|
|
HPSE
|
[NCBI]
|
0.000135588
|
|
|
fucosidosis
|
[NCBI]
|
0.000135209
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
0.000129756
|
|
|
amish infantile epilepsy syndrome
|
[NCBI]
|
0.000117216
|
|
|
CDG1E
|
[NCBI]
|
0.000117216
|
|
|
sandhoff disease
|
[NCBI]
|
0.00011377
|
|
|
mucopolysaccharidoses, unclassified types
|
[NCBI]
|
0.000105325
|
|
|
lactose intolerance, congenital
|
[NCBI]
|
9.76152e-05
|
|
|
SLE
|
[NCBI]
|
9.74122e-05
|
|
|
lactase deficiency, congenital
|
[NCBI]
|
9.18904e-05
|
|
|
IDUA
|
[NCBI]
|
8.98456e-05
|
|
|
glycogen storage disease ii
|
[NCBI]
|
8.72266e-05
|
|
|
thyroxine-binding globulin of serum
|
[NCBI]
|
8.35524e-05
|
|
|
krabbe disease
|
[NCBI]
|
8.26046e-05
|
|
|
aspirin resistance
|
[NCBI]
|
7.07011e-05
|
|
|
gaucher disease, type ii
|
[NCBI]
|
6.71115e-05
|
|
|
ADPRHL2
|
[NCBI]
|
6.59789e-05
|
|
|
hypophosphatasia, adult type
|
[NCBI]
|
6.26363e-05
|
|
|
alkaptonuria
|
[NCBI]
|
5.78212e-05
|
|
|
mucopolysaccharidosis type iiib
|
[NCBI]
|
5.67688e-05
|
|
|
TREH
|
[NCBI]
|
5.57664e-05
|
|
|
niemann-pick disease, type b
|
[NCBI]
|
5.57657e-05
|
|
|
infantile sialic acid storage disorder
|
[NCBI]
|
5.30125e-05
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
5.1358e-05
|
|
|
UMOD
|
[NCBI]
|
5.08006e-05
|
|
|
PARP1
|
[NCBI]
|
4.61619e-05
|
|
|
lactase persistence
|
[NCBI]
|
4.2444e-05
|
|
|
MAN2B1
|
[NCBI]
|
4.09166e-05
|
|
|
ADPRH
|
[NCBI]
|
3.80878e-05
|
|
|
gaucher disease, type i
|
[NCBI]
|
3.44839e-05
|
|
|
TNF
|
[NCBI]
|
3.22712e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
3.14416e-05
|
|
|
ADPRHL1
|
[NCBI]
|
3.06686e-05
|
|
|
ST6GALNAC3
|
[NCBI]
|
3.06686e-05
|
|
|
PRELP
|
[NCBI]
|
3.06686e-05
|
|
|
PLA2G3
|
[NCBI]
|
2.7871e-05
|
|
|
UAP1
|
[NCBI]
|
2.7871e-05
|
|
|
PTGFRN
|
[NCBI]
|
2.7871e-05
|
|
|
deleted in split-hand/split-foot 1 region
|
[NCBI]
|
2.60558e-05
|
|
|
chitobiase, di-n-acetyl-
|
[NCBI]
|
2.60558e-05
|
|
|
GCS1
|
[NCBI]
|
2.60558e-05
|
|
|
SDC2
|
[NCBI]
|
2.5555e-05
|
|
|
HEXA
|
[NCBI]
|
2.52227e-05
|
|
|
H6PD
|
[NCBI]
|
2.51074e-05
|
|
|
DPM1
|
[NCBI]
|
2.47071e-05
|
|
|
CA6
|
[NCBI]
|
2.36332e-05
|
|
|
IL31RA
|
[NCBI]
|
2.36332e-05
|
|
|
NSF
|
[NCBI]
|
2.31383e-05
|
|
|
GUSB
|
[NCBI]
|
2.27697e-05
|
|
|
PLB1
|
[NCBI]
|
2.27409e-05
|
|
|
SI
|
[NCBI]
|
2.24145e-05
|
|
|
CF
|
[NCBI]
|
2.23104e-05
|
|
|
SIL1
|
[NCBI]
|
2.13109e-05
|
|
|
HPS1
|
[NCBI]
|
2.0719e-05
|
|
|
CXCL11
|
[NCBI]
|
2.0719e-05
|
|
|
ST8SIA4
|
[NCBI]
|
1.97038e-05
|
|
|
CTSE
|
[NCBI]
|
1.97038e-05
|
|
|
HPS
|
[NCBI]
|
1.94311e-05
|
|
|
SLC17A5
|
[NCBI]
|
1.92614e-05
|
|
|
BLMH
|
[NCBI]
|
1.92614e-05
|
|
|
CA4
|
[NCBI]
|
1.88535e-05
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
1.88535e-05
|
|
|
AP3B1
|
[NCBI]
|
1.88535e-05
|
|
|
MAG
|
[NCBI]
|
1.87053e-05
|
|
|
CHS
|
[NCBI]
|
1.80681e-05
|
|
|
MCP
|
[NCBI]
|
1.7643e-05
|
|
|
SN
|
[NCBI]
|
1.63956e-05
|
|
|
tay-sachs disease, ab variant
|
[NCBI]
|
1.61564e-05
|
|
|
CD59
|
[NCBI]
|
1.54992e-05
|
|
|
CES1
|
[NCBI]
|
1.4562e-05
|
|
|
ARSB
|
[NCBI]
|
1.43936e-05
|
|
|
GP1BA
|
[NCBI]
|
1.43936e-05
|
|
|
APOH
|
[NCBI]
|
1.37708e-05
|
|
|
BACE1
|
[NCBI]
|
1.36264e-05
|
|
|
FN1
|
[NCBI]
|
1.33495e-05
|
|
|
GRIA2
|
[NCBI]
|
1.3087e-05
|
|
|
IL2RA
|
[NCBI]
|
1.20515e-05
|
|
|
TG
|
[NCBI]
|
1.16562e-05
|
|
|
RASA1
|
[NCBI]
|
1.15081e-05
|
|
|
TBG
|
[NCBI]
|
1.11961e-05
|
|
|
SLC2A2
|
[NCBI]
|
1.06214e-05
|
|
|
BTC
|
[NCBI]
|
1.05446e-05
|
|
|
UGT1A1
|
[NCBI]
|
1.03214e-05
|
|
|
TF
|
[NCBI]
|
1.00832e-05
|
|
|
LCN2
|
[NCBI]
|
9.97114e-06
|
|
|
CCL2
|
[NCBI]
|
9.58248e-06
|
|
|
LCAT
|
[NCBI]
|
9.10904e-06
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
9.05416e-06
|
|
|
BSG
|
[NCBI]
|
8.99901e-06
|
|
|
HRG
|
[NCBI]
|
8.78483e-06
|
|
|
LCT
|
[NCBI]
|
8.73282e-06
|
|
|
polycystic kidneys
|
[NCBI]
|
8.13395e-06
|
|
|
PRL
|
[NCBI]
|
7.39195e-06
|
|
|
RNASE2
|
[NCBI]
|
7.10459e-06
|
|
|
AVP
|
[NCBI]
|
6.46545e-06
|
|
|
NGFB
|
[NCBI]
|
6.40163e-06
|
|
|
GC
|
[NCBI]
|
6.32385e-06
|
|
|
IGFALS
|
[NCBI]
|
6.29432e-06
|
|
|
KLK3
|
[NCBI]
|
6.27726e-06
|
|
|
PSEN1
|
[NCBI]
|
5.98294e-06
|
|
|
SPINK1
|
[NCBI]
|
5.13025e-06
|
|
|
LPL
|
[NCBI]
|
4.73912e-06
|
|
|
SST
|
[NCBI]
|
4.50955e-06
|
|
|
GFAP
|
[NCBI]
|
4.48709e-06
|
|
|
ABP1
|
[NCBI]
|
4.47298e-06
|
|
|
PDCD8
|
[NCBI]
|
3.79891e-06
|
|
|
SERPINA6
|
[NCBI]
|
3.50118e-06
|
|
|
MPO
|
[NCBI]
|
3.01671e-06
|
|
|
GNRH1
|
[NCBI]
|
2.9023e-06
|
|
|
LRP1
|
[NCBI]
|
2.85974e-06
|
|
|
OSM
|
[NCBI]
|
2.38543e-06
|
|
|
ACHE
|
[NCBI]
|
2.37631e-06
|
|
|
TPO
|
[NCBI]
|
1.8851e-06
|
|
|
MBP
|
[NCBI]
|
1.88125e-06
|
|
|
ACE
|
[NCBI]
|
1.62172e-06
|
|
|
FGF7
|
[NCBI]
|
1.51737e-06
|
|
|
HP
|
[NCBI]
|
1.3579e-06
|
|
|
PF4
|
[NCBI]
|
1.17822e-06
|
|
|
CHAT
|
[NCBI]
|
1.15622e-06
|
|
|
CCK
|
[NCBI]
|
1.15591e-06
|
|
|
IL2
|
[NCBI]
|
9.88086e-07
|
|
|
NPPA
|
[NCBI]
|
8.63561e-07
|
|
|
CNTF
|
[NCBI]
|
3.56795e-07
|
|
|
BDNF
|
[NCBI]
|
3.41801e-07
|
|
|
CEACAM5
|
[NCBI]
|
2.56453e-07
|
|
|
CFTR
|
[NCBI]
|
2.18614e-07
|
|
|
EGF
|
[NCBI]
|
2.04545e-07
|
|
|
RNASE3
|
[NCBI]
|
1.3659e-07
|
|
|
AFP
|
[NCBI]
|
9.43698e-08
|
|
|
APOB
|
[NCBI]
|
8.20696e-08
|
|
|
SHBG
|
[NCBI]
|
5.55372e-08
|
|
|
CJD
|
[NCBI]
|
2.51193e-08
|
|
|
EPO
|
[NCBI]
|
1.00986e-08
|
|