|
OMIM |
Link |
Information gain |
01 |
|
ethanolaminosis
|
[NCBI]
|
0.00264194
|
|
|
hyperglycerolemia
|
[NCBI]
|
0.00199354
|
|
|
phosphoribosylpyrophosphate synthetase superactivity
|
[NCBI]
|
0.00166119
|
|
|
d-glyceric acidemia
|
[NCBI]
|
0.00162298
|
|
|
spondyloepiphyseal dysplasia tarda, toledo type
|
[NCBI]
|
0.00162298
|
|
|
galactokinase deficiency
|
[NCBI]
|
0.0011552
|
|
|
mucolipidosis ii
|
[NCBI]
|
0.000961419
|
|
|
AK1
|
[NCBI]
|
0.000677289
|
|
|
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to
|
[NCBI]
|
0.000562611
|
|
|
IDDM
|
[NCBI]
|
0.000534254
|
|
|
RA
|
[NCBI]
|
0.000485185
|
|
|
LS
|
[NCBI]
|
0.000442694
|
|
|
AHC
|
[NCBI]
|
0.000417317
|
|
|
glycogen storage disease ic
|
[NCBI]
|
0.000411687
|
|
|
mucolipidosis iiia
|
[NCBI]
|
0.000354012
|
|
|
CMPK1
|
[NCBI]
|
0.000332616
|
|
|
mevalonic aciduria
|
[NCBI]
|
0.000328685
|
|
|
G6PT1
|
[NCBI]
|
0.000312162
|
|
|
glycogen storage disease ib
|
[NCBI]
|
0.000311416
|
|
|
diphosphoglycerate mutase deficiency of erythrocyte
|
[NCBI]
|
0.000305829
|
|
|
mucolipidosis iii, complementation group c
|
[NCBI]
|
0.000293051
|
|
|
GUK2
|
[NCBI]
|
0.000282037
|
|
|
CDK5
|
[NCBI]
|
0.000276721
|
|
|
PRPS1
|
[NCBI]
|
0.000266699
|
|
|
phosphoglycerate mutase, muscle, deficiency of
|
[NCBI]
|
0.000245917
|
|
|
ACG1B
|
[NCBI]
|
0.000205493
|
|
|
NPS
|
[NCBI]
|
0.000178839
|
|
|
ADA
|
[NCBI]
|
0.000170128
|
|
|
pyruvate kinase deficiency of red cells
|
[NCBI]
|
0.000168258
|
|
|
CF
|
[NCBI]
|
0.000161804
|
|
|
DCK
|
[NCBI]
|
0.000151666
|
|
|
GALK1
|
[NCBI]
|
0.000141316
|
|
|
ovarian teratoma
|
[NCBI]
|
0.000140931
|
|
|
TK1
|
[NCBI]
|
0.000138091
|
|
|
ABO
|
[NCBI]
|
0.000119941
|
|
|
PRPS2
|
[NCBI]
|
0.000119659
|
|
|
pseudoacromegaly with severe insulin resistance
|
[NCBI]
|
0.000109387
|
|
|
syringomas, multiple
|
[NCBI]
|
0.000109387
|
|
|
ITPKB
|
[NCBI]
|
0.00010505
|
|
|
heinz body anemias
|
[NCBI]
|
9.75099e-05
|
|
|
mullerian aplasia
|
[NCBI]
|
9.75099e-05
|
|
|
leigh syndrome, x-linked
|
[NCBI]
|
9.75099e-05
|
|
|
CTNS
|
[NCBI]
|
9.66081e-05
|
|
|
ITPKA
|
[NCBI]
|
9.30127e-05
|
|
|
PIK3R1
|
[NCBI]
|
9.05267e-05
|
|
|
AMDM
|
[NCBI]
|
8.98134e-05
|
|
|
MHS1
|
[NCBI]
|
8.87161e-05
|
|
|
AK3
|
[NCBI]
|
7.94824e-05
|
|
|
RASA1
|
[NCBI]
|
7.78835e-05
|
|
|
PGAM1
|
[NCBI]
|
7.67476e-05
|
|
|
phosphorylase kinase deficiency of liver and muscle, autosomal recessive
|
[NCBI]
|
7.57917e-05
|
|
|
FDH
|
[NCBI]
|
7.57917e-05
|
|
|
tuftsin deficiency
|
[NCBI]
|
7.57917e-05
|
|
|
acyl-coa dehydrogenase, long-chain, deficiency of
|
[NCBI]
|
7.57917e-05
|
|
|
ADK
|
[NCBI]
|
7.50515e-05
|
|
|
GK
|
[NCBI]
|
7.01902e-05
|
|
|
RBKS
|
[NCBI]
|
7.00196e-05
|
|
|
CARKL
|
[NCBI]
|
7.00196e-05
|
|
|
selenophosphate synthetase 1
|
[NCBI]
|
7.00196e-05
|
|
|
GUK3
|
[NCBI]
|
7.00196e-05
|
|
|
RHN
|
[NCBI]
|
6.97628e-05
|
|
|
SC
|
[NCBI]
|
6.97628e-05
|
|
|
PAG1
|
[NCBI]
|
6.89842e-05
|
|
|
TNF
|
[NCBI]
|
6.7807e-05
|
|
|
AIED
|
[NCBI]
|
6.72723e-05
|
|
|
ACO1
|
[NCBI]
|
6.49483e-05
|
|
|
GALT
|
[NCBI]
|
6.37236e-05
|
|
|
selenophosphate synthetase 2
|
[NCBI]
|
5.98019e-05
|
|
|
GUK1
|
[NCBI]
|
5.98019e-05
|
|
|
phosphoglycerate kinase 1 deficiency
|
[NCBI]
|
5.94467e-05
|
|
|
CPS1
|
[NCBI]
|
5.90698e-05
|
|
|
PMC
|
[NCBI]
|
5.78645e-05
|
|
|
orotic aciduria i
|
[NCBI]
|
5.60983e-05
|
|
|
FBS
|
[NCBI]
|
5.37182e-05
|
|
|
PIK3R2
|
[NCBI]
|
5.20231e-05
|
|
|
PFKFB1
|
[NCBI]
|
5.20231e-05
|
|
|
AK2
|
[NCBI]
|
5.20231e-05
|
|
|
uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
|
[NCBI]
|
5.13454e-05
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
5.13454e-05
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
4.92136e-05
|
|
|
EGF
|
[NCBI]
|
4.14464e-05
|
|
|
NP
|
[NCBI]
|
4.01852e-05
|
|
|
VEGF
|
[NCBI]
|
4.01601e-05
|
|
|
CTNS
|
[NCBI]
|
3.71622e-05
|
|
|
MTM1
|
[NCBI]
|
3.61949e-05
|
|
|
PGM3
|
[NCBI]
|
3.53429e-05
|
|
|
PSTK
|
[NCBI]
|
3.50029e-05
|
|
|
PRPS1L1
|
[NCBI]
|
3.50029e-05
|
|
|
PGM2L1
|
[NCBI]
|
3.50029e-05
|
|
|
STK35
|
[NCBI]
|
3.50029e-05
|
|
|
NRBP
|
[NCBI]
|
3.50029e-05
|
|
|
PDIK1L
|
[NCBI]
|
3.50029e-05
|
|
|
monophosphoglycerate mutase
|
[NCBI]
|
3.50029e-05
|
|
|
NT5C1B
|
[NCBI]
|
3.50029e-05
|
|
|
PFKFB2
|
[NCBI]
|
3.50029e-05
|
|
|
ORM1
|
[NCBI]
|
3.37948e-05
|
|
|
TCOF
|
[NCBI]
|
3.37131e-05
|
|
|
CHM
|
[NCBI]
|
3.32535e-05
|
|
|
PNKP
|
[NCBI]
|
3.16389e-05
|
|
|
PGP
|
[NCBI]
|
3.1257e-05
|
|
|
MVK
|
[NCBI]
|
3.05332e-05
|
|
|
SCZD
|
[NCBI]
|
2.84818e-05
|
|
|
STK16
|
[NCBI]
|
2.75872e-05
|
|
|
GLYCTK
|
[NCBI]
|
2.75872e-05
|
|
|
DGKB
|
[NCBI]
|
2.75872e-05
|
|
|
MED28
|
[NCBI]
|
2.75872e-05
|
|
|
RHCE
|
[NCBI]
|
2.54245e-05
|
|
|
SORBS3
|
[NCBI]
|
2.4793e-05
|
|
|
ITPKC
|
[NCBI]
|
2.4793e-05
|
|
|
RPS6KA6
|
[NCBI]
|
2.4793e-05
|
|
|
P2RX5
|
[NCBI]
|
2.4793e-05
|
|
|
CPNE3
|
[NCBI]
|
2.4793e-05
|
|
|
PGM1
|
[NCBI]
|
2.42337e-05
|
|
|
PRL
|
[NCBI]
|
2.35831e-05
|
|
|
PIP5K2B
|
[NCBI]
|
2.29811e-05
|
|
|
CLP1
|
[NCBI]
|
2.29811e-05
|
|
|
CABLES1
|
[NCBI]
|
2.29811e-05
|
|
|
PDLIM1
|
[NCBI]
|
2.29811e-05
|
|
|
EFNA3
|
[NCBI]
|
2.29811e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
2.23722e-05
|
|
|
thrombasthenia of glanzmann and naegeli
|
[NCBI]
|
2.23722e-05
|
|
|
ITGAE
|
[NCBI]
|
2.16359e-05
|
|
|
RABIF
|
[NCBI]
|
2.16359e-05
|
|
|
DPAGT1
|
[NCBI]
|
2.16359e-05
|
|
|
CPI
|
[NCBI]
|
2.14272e-05
|
|
|
ENO2
|
[NCBI]
|
2.05654e-05
|
|
|
CSK
|
[NCBI]
|
2.05654e-05
|
|
|
DGKA
|
[NCBI]
|
2.05654e-05
|
|
|
IFITM1
|
[NCBI]
|
2.05654e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
1.98996e-05
|
|
|
PTH
|
[NCBI]
|
1.98509e-05
|
|
|
MDH2
|
[NCBI]
|
1.96765e-05
|
|
|
PPA1
|
[NCBI]
|
1.96765e-05
|
|
|
ACHE
|
[NCBI]
|
1.94244e-05
|
|
|
TRPM7
|
[NCBI]
|
1.89166e-05
|
|
|
PGM2
|
[NCBI]
|
1.82532e-05
|
|
|
NT5C
|
[NCBI]
|
1.82532e-05
|
|
|
NTS
|
[NCBI]
|
1.82532e-05
|
|
|
PDE11A
|
[NCBI]
|
1.82532e-05
|
|
|
NFKB2
|
[NCBI]
|
1.82532e-05
|
|
|
GRB7
|
[NCBI]
|
1.82532e-05
|
|
|
AVP
|
[NCBI]
|
1.7757e-05
|
|
|
PDXK
|
[NCBI]
|
1.76648e-05
|
|
|
PAPSS1
|
[NCBI]
|
1.76648e-05
|
|
|
RIPK2
|
[NCBI]
|
1.76648e-05
|
|
|
EPHA4
|
[NCBI]
|
1.71361e-05
|
|
|
MDH1
|
[NCBI]
|
1.71361e-05
|
|
|
CCNA2
|
[NCBI]
|
1.71361e-05
|
|
|
TH
|
[NCBI]
|
1.6718e-05
|
|
|
HSCR1
|
[NCBI]
|
1.65681e-05
|
|
|
PAPSS2
|
[NCBI]
|
1.62174e-05
|
|
|
ESD
|
[NCBI]
|
1.61397e-05
|
|
|
HPRT1
|
[NCBI]
|
1.59048e-05
|
|
|
CDK5R1
|
[NCBI]
|
1.58128e-05
|
|
|
IDH1
|
[NCBI]
|
1.58128e-05
|
|
|
GRB10
|
[NCBI]
|
1.54378e-05
|
|
|
GOT1
|
[NCBI]
|
1.54378e-05
|
|
|
GPI
|
[NCBI]
|
1.49736e-05
|
|
|
PCNA
|
[NCBI]
|
1.49057e-05
|
|
|
ENO1
|
[NCBI]
|
1.44537e-05
|
|
|
CRH
|
[NCBI]
|
1.42444e-05
|
|
|
NRAS
|
[NCBI]
|
1.36295e-05
|
|
|
TCOF1
|
[NCBI]
|
1.36295e-05
|
|
|
EPO
|
[NCBI]
|
1.35624e-05
|
|
|
CRC
|
[NCBI]
|
1.35455e-05
|
|
|
PJS
|
[NCBI]
|
1.32292e-05
|
|
|
PIK3CA
|
[NCBI]
|
1.31464e-05
|
|
|
VIP
|
[NCBI]
|
1.2999e-05
|
|
|
HK1
|
[NCBI]
|
1.24994e-05
|
|
|
AMPD1
|
[NCBI]
|
1.24994e-05
|
|
|
PIAS1
|
[NCBI]
|
1.24994e-05
|
|
|
DMD
|
[NCBI]
|
1.20161e-05
|
|
|
SLN
|
[NCBI]
|
1.1927e-05
|
|
|
MN
|
[NCBI]
|
1.09504e-05
|
|
|
BDNF
|
[NCBI]
|
1.08834e-05
|
|
|
PTHR1
|
[NCBI]
|
1.08051e-05
|
|
|
RPS6KA3
|
[NCBI]
|
1.06641e-05
|
|
|
JAK2
|
[NCBI]
|
1.05416e-05
|
|
|
JAK1
|
[NCBI]
|
1.05271e-05
|
|
|
glycogen storage disease ixa
|
[NCBI]
|
1.05271e-05
|
|
|
STK11
|
[NCBI]
|
1.03939e-05
|
|
|
AIS
|
[NCBI]
|
1.01142e-05
|
|
|
BRAF
|
[NCBI]
|
9.89561e-06
|
|
|
PKLR
|
[NCBI]
|
9.89561e-06
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
9.77883e-06
|
|
|
EGFR
|
[NCBI]
|
9.5007e-06
|
|
|
AKT1
|
[NCBI]
|
8.93684e-06
|
|
|
MAP1B
|
[NCBI]
|
8.93684e-06
|
|
|
FH
|
[NCBI]
|
8.65691e-06
|
|
|
AR
|
[NCBI]
|
8.65243e-06
|
|
|
LBR
|
[NCBI]
|
8.22566e-06
|
|
|
GNRHR
|
[NCBI]
|
8.22566e-06
|
|
|
PGK1
|
[NCBI]
|
8.14417e-06
|
|
|
NFKB1
|
[NCBI]
|
8.06414e-06
|
|
|
ATF3
|
[NCBI]
|
8.06414e-06
|
|
|
CCK
|
[NCBI]
|
7.85294e-06
|
|
|
IRS1
|
[NCBI]
|
7.83237e-06
|
|
|
HMGB1
|
[NCBI]
|
7.83237e-06
|
|
|
GRB2
|
[NCBI]
|
7.83237e-06
|
|
|
SLC2A2
|
[NCBI]
|
7.75774e-06
|
|
|
CDC2
|
[NCBI]
|
7.47135e-06
|
|
|
AS
|
[NCBI]
|
7.14102e-06
|
|
|
UBTF
|
[NCBI]
|
7.13812e-06
|
|
|
GFAP
|
[NCBI]
|
6.7732e-06
|
|
|
IL3
|
[NCBI]
|
6.71153e-06
|
|
|
MBP
|
[NCBI]
|
6.31818e-06
|
|
|
STAT6
|
[NCBI]
|
6.27219e-06
|
|
|
H6PD
|
[NCBI]
|
6.22045e-06
|
|
|
PLN
|
[NCBI]
|
6.22045e-06
|
|
|
HLA-A
|
[NCBI]
|
6.16937e-06
|
|
|
TRPV1
|
[NCBI]
|
6.16937e-06
|
|
|
STAT3
|
[NCBI]
|
6.09038e-06
|
|
|
GIST
|
[NCBI]
|
6.03041e-06
|
|
|
HNF1A
|
[NCBI]
|
5.92326e-06
|
|
|
CHAT
|
[NCBI]
|
5.61894e-06
|
|
|
ATM
|
[NCBI]
|
5.22592e-06
|
|
|
NRG1
|
[NCBI]
|
5.18629e-06
|
|
|
NPPA
|
[NCBI]
|
4.79123e-06
|
|
|
CFTR
|
[NCBI]
|
4.45543e-06
|
|
|
INSR
|
[NCBI]
|
4.31431e-06
|
|
|
UCN
|
[NCBI]
|
4.22285e-06
|
|
|
UCP1
|
[NCBI]
|
4.0757e-06
|
|
|
FGF2
|
[NCBI]
|
3.69562e-06
|
|
|
hemophilia a
|
[NCBI]
|
3.44958e-06
|
|
|
CDK4
|
[NCBI]
|
3.1145e-06
|
|
|
DMD
|
[NCBI]
|
2.8914e-06
|
|
|
EPOR
|
[NCBI]
|
2.77692e-06
|
|
|
BCR
|
[NCBI]
|
2.77692e-06
|
|
|
HGF
|
[NCBI]
|
2.77427e-06
|
|
|
ALK
|
[NCBI]
|
2.37939e-06
|
|
|
ILK
|
[NCBI]
|
2.31629e-06
|
|
|
FGFR3
|
[NCBI]
|
1.87852e-06
|
|
|
CDK2
|
[NCBI]
|
1.6952e-06
|
|
|
PTK2
|
[NCBI]
|
1.61853e-06
|
|
|
APRT
|
[NCBI]
|
1.56008e-06
|
|
|
G6PD
|
[NCBI]
|
1.3745e-06
|
|
|
ADM
|
[NCBI]
|
1.19043e-06
|
|
|
NGFB
|
[NCBI]
|
9.25328e-07
|
|
|
TYMS
|
[NCBI]
|
8.46765e-07
|
|
|
GAPDH
|
[NCBI]
|
8.31675e-07
|
|
|
SLC6A4
|
[NCBI]
|
7.81614e-07
|
|
|
GDNF
|
[NCBI]
|
5.22842e-07
|
|
|
PD
|
[NCBI]
|
4.99288e-07
|
|
|
SRF
|
[NCBI]
|
3.62332e-07
|
|
|
MAG
|
[NCBI]
|
2.95757e-07
|
|
|
TF
|
[NCBI]
|
2.78167e-07
|
|
|
APC
|
[NCBI]
|
2.37203e-07
|
|
|
CNTF
|
[NCBI]
|
1.00544e-07
|
|
|
CTGF
|
[NCBI]
|
8.76213e-08
|
|
|
PF4
|
[NCBI]
|
7.2472e-08
|
|
|
SOD2
|
[NCBI]
|
2.24279e-08
|
|
|
FRAP1
|
[NCBI]
|
2.18263e-08
|
|
|
DHFR
|
[NCBI]
|
1.1957e-08
|
|
|
FA
|
[NCBI]
|
3.70608e-09
|
|