|
OMIM |
Link |
Information gain |
01 |
|
storage pool platelet disease
|
[NCBI]
|
0.00480184
|
|
|
spondyloepiphyseal dysplasia tarda, toledo type
|
[NCBI]
|
0.00332128
|
|
|
dandy-walker malformation with mental retardation, basal ganglia disease, and seizures
|
[NCBI]
|
0.00235325
|
|
|
fatty metamorphosis of viscera
|
[NCBI]
|
0.00150626
|
|
|
GPS
|
[NCBI]
|
0.000815814
|
|
|
CHS
|
[NCBI]
|
0.000282311
|
|
|
ACG1B
|
[NCBI]
|
0.000269283
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
0.000221197
|
|
|
ADA
|
[NCBI]
|
0.000217495
|
|
|
uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
|
[NCBI]
|
0.000197973
|
|
|
athrombia, essential
|
[NCBI]
|
0.000172611
|
|
|
pyruvate kinase deficiency of red cells
|
[NCBI]
|
0.000156041
|
|
|
LNS
|
[NCBI]
|
0.000150739
|
|
|
DCK
|
[NCBI]
|
0.000128288
|
|
|
AHO
|
[NCBI]
|
0.000126879
|
|
|
RNASEL
|
[NCBI]
|
0.000120196
|
|
|
HPS
|
[NCBI]
|
0.000111886
|
|
|
phosphorylase kinase deficiency of liver and muscle, autosomal recessive
|
[NCBI]
|
0.000107259
|
|
|
adenosine deaminase, elevated, hemolytic anemia due to
|
[NCBI]
|
0.00010116
|
|
|
HPC1
|
[NCBI]
|
9.63627e-05
|
|
|
DNTT
|
[NCBI]
|
8.70182e-05
|
|
|
xanthinuria, type i
|
[NCBI]
|
8.61268e-05
|
|
|
CHAC
|
[NCBI]
|
7.54433e-05
|
|
|
glycogen storage disease ixa
|
[NCBI]
|
7.00569e-05
|
|
|
prostate cancer
|
[NCBI]
|
6.48627e-05
|
|
|
P2RY6
|
[NCBI]
|
6.36304e-05
|
|
|
HHF2
|
[NCBI]
|
6.19224e-05
|
|
|
JMML
|
[NCBI]
|
5.66606e-05
|
|
|
AMPD1
|
[NCBI]
|
4.63655e-05
|
|
|
ADK
|
[NCBI]
|
4.3735e-05
|
|
|
PXE
|
[NCBI]
|
4.14877e-05
|
|
|
APRT
|
[NCBI]
|
3.74643e-05
|
|
|
PGK1
|
[NCBI]
|
3.70593e-05
|
|
|
AIS
|
[NCBI]
|
3.62059e-05
|
|
|
P2RY11
|
[NCBI]
|
3.45896e-05
|
|
|
RNS4I
|
[NCBI]
|
3.17898e-05
|
|
|
RBM17
|
[NCBI]
|
3.17898e-05
|
|
|
PPAN
|
[NCBI]
|
3.17898e-05
|
|
|
MODY
|
[NCBI]
|
3.0732e-05
|
|
|
SLC25A3
|
[NCBI]
|
2.86213e-05
|
|
|
PPAT
|
[NCBI]
|
2.86213e-05
|
|
|
ADORA2B
|
[NCBI]
|
2.75451e-05
|
|
|
MDH2
|
[NCBI]
|
2.66506e-05
|
|
|
PPP1R2
|
[NCBI]
|
2.5885e-05
|
|
|
VDAC2
|
[NCBI]
|
2.5885e-05
|
|
|
PLCB2
|
[NCBI]
|
2.5216e-05
|
|
|
NT5C3
|
[NCBI]
|
2.5216e-05
|
|
|
VDAC1
|
[NCBI]
|
2.40876e-05
|
|
|
MDH1
|
[NCBI]
|
2.40876e-05
|
|
|
PCBP2
|
[NCBI]
|
2.36022e-05
|
|
|
PAPSS2
|
[NCBI]
|
2.31575e-05
|
|
|
IDH1
|
[NCBI]
|
2.27472e-05
|
|
|
TBXA2R
|
[NCBI]
|
2.23665e-05
|
|
|
APAF1
|
[NCBI]
|
2.16785e-05
|
|
|
SLC25A20
|
[NCBI]
|
1.87763e-05
|
|
|
PBP
|
[NCBI]
|
1.82466e-05
|
|
|
KCNJ11
|
[NCBI]
|
1.80813e-05
|
|
|
CFTR
|
[NCBI]
|
1.79968e-05
|
|
|
AK1
|
[NCBI]
|
1.74681e-05
|
|
|
GSR
|
[NCBI]
|
1.56558e-05
|
|
|
isoniazid inactivation
|
[NCBI]
|
1.55549e-05
|
|
|
CF
|
[NCBI]
|
1.46764e-05
|
|
|
PF4
|
[NCBI]
|
1.38215e-05
|
|
|
ANG
|
[NCBI]
|
1.35215e-05
|
|
|
RYR1
|
[NCBI]
|
1.34549e-05
|
|
|
PARP1
|
[NCBI]
|
1.33892e-05
|
|
|
APC
|
[NCBI]
|
1.22269e-05
|
|
|
PTH
|
[NCBI]
|
1.11923e-05
|
|
|
HPRT1
|
[NCBI]
|
1.1e-05
|
|
|
von willebrand disease
|
[NCBI]
|
1.06135e-05
|
|
|
XDH
|
[NCBI]
|
1.0179e-05
|
|
|
GAPDH
|
[NCBI]
|
9.7566e-06
|
|
|
VEGF
|
[NCBI]
|
9.3357e-06
|
|
|
ACADM
|
[NCBI]
|
9.15435e-06
|
|
|
CAT
|
[NCBI]
|
8.44345e-06
|
|
|
G6PD
|
[NCBI]
|
6.52385e-06
|
|
|
GPI
|
[NCBI]
|
5.91943e-06
|
|
|
ABCC1
|
[NCBI]
|
4.73164e-06
|
|
|
EGF
|
[NCBI]
|
4.61462e-06
|
|
|
NGFB
|
[NCBI]
|
3.15345e-06
|
|
|
NPY
|
[NCBI]
|
1.59337e-06
|
|
|
TNF
|
[NCBI]
|
1.34871e-06
|
|
|
ACHE
|
[NCBI]
|
1.0307e-06
|
|
|
AVP
|
[NCBI]
|
8.09584e-07
|
|
|
TNFSF6
|
[NCBI]
|
7.33106e-07
|
|
|
TH
|
[NCBI]
|
6.80366e-07
|
|
|
CCK
|
[NCBI]
|
4.48589e-07
|
|
|
VIP
|
[NCBI]
|
2.84838e-07
|
|
|
AD
|
[NCBI]
|
1.61582e-07
|
|
|
MPO
|
[NCBI]
|
8.16617e-08
|
|
|
MBP
|
[NCBI]
|
2.26219e-11
|
|