|
OMIM |
Link |
Information gain |
01 |
|
distichiasis
|
[NCBI]
|
0.00296772
|
|
|
homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity
|
[NCBI]
|
0.000133256
|
|
|
sertoli cell-only syndrome
|
[NCBI]
|
0.000127645
|
|
|
RCD3A
|
[NCBI]
|
0.00010802
|
|
|
watson syndrome
|
[NCBI]
|
0.000102283
|
|
|
CMT2B
|
[NCBI]
|
9.7715e-05
|
|
|
amyloidosis vii
|
[NCBI]
|
9.7715e-05
|
|
|
STHAG3
|
[NCBI]
|
9.39201e-05
|
|
|
mitochondrial myopathy with diabetes
|
[NCBI]
|
9.06744e-05
|
|
|
amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1
|
[NCBI]
|
9.06744e-05
|
|
|
HHF6
|
[NCBI]
|
8.78393e-05
|
|
|
pancreatic agenesis, congenital
|
[NCBI]
|
8.78393e-05
|
|
|
lymphedema-distichiasis syndrome
|
[NCBI]
|
8.53229e-05
|
|
|
PALS
|
[NCBI]
|
8.30612e-05
|
|
|
apert syndrome
|
[NCBI]
|
8.30612e-05
|
|
|
lipoid proteinosis of urbach and wiethe
|
[NCBI]
|
8.10076e-05
|
|
|
UNG
|
[NCBI]
|
7.85356e-05
|
|
|
ALKBH2
|
[NCBI]
|
7.78918e-05
|
|
|
apolipoprotein c-ii deficiency
|
[NCBI]
|
7.73935e-05
|
|
|
GRTH
|
[NCBI]
|
7.42858e-05
|
|
|
AMELX
|
[NCBI]
|
7.16717e-05
|
|
|
SCA17
|
[NCBI]
|
7.03154e-05
|
|
|
TDG
|
[NCBI]
|
7.00267e-05
|
|
|
AS
|
[NCBI]
|
6.87165e-05
|
|
|
dyschromatosis symmetrica hereditaria 1
|
[NCBI]
|
6.80174e-05
|
|
|
NEIL2
|
[NCBI]
|
6.767e-05
|
|
|
ALKBH3
|
[NCBI]
|
6.767e-05
|
|
|
DCK
|
[NCBI]
|
6.71171e-05
|
|
|
BPES
|
[NCBI]
|
6.49672e-05
|
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome
|
[NCBI]
|
6.31474e-05
|
|
|
RTS
|
[NCBI]
|
6.06752e-05
|
|
|
myoclonic dystonia
|
[NCBI]
|
6.06752e-05
|
|
|
DNMT2
|
[NCBI]
|
5.98832e-05
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
5.91713e-05
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
5.8457e-05
|
|
|
hyperoxaluria, primary, type i
|
[NCBI]
|
5.77656e-05
|
|
|
NEIL1
|
[NCBI]
|
5.74556e-05
|
|
|
hemophilia a
|
[NCBI]
|
5.49036e-05
|
|
|
BCPM
|
[NCBI]
|
5.403e-05
|
|
|
CCD
|
[NCBI]
|
4.94308e-05
|
|
|
MTHFR
|
[NCBI]
|
4.74956e-05
|
|
|
RA
|
[NCBI]
|
4.73107e-05
|
|
|
AR
|
[NCBI]
|
4.62071e-05
|
|
|
CD14
|
[NCBI]
|
4.43275e-05
|
|
|
SCA1
|
[NCBI]
|
4.21602e-05
|
|
|
porphyria variegata
|
[NCBI]
|
4.1841e-05
|
|
|
TLR9
|
[NCBI]
|
4.10449e-05
|
|
|
HBB
|
[NCBI]
|
4.04571e-05
|
|
|
AMPD1
|
[NCBI]
|
4.02233e-05
|
|
|
thrombasthenia of glanzmann and naegeli
|
[NCBI]
|
3.86306e-05
|
|
|
APS1
|
[NCBI]
|
3.7328e-05
|
|
|
LS
|
[NCBI]
|
3.70776e-05
|
|
|
BCNS
|
[NCBI]
|
3.68305e-05
|
|
|
FRDA
|
[NCBI]
|
3.61073e-05
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
3.56399e-05
|
|
|
CDA
|
[NCBI]
|
3.40002e-05
|
|
|
MTATP6
|
[NCBI]
|
3.37685e-05
|
|
|
CTSC
|
[NCBI]
|
3.31028e-05
|
|
|
giant platelet syndrome
|
[NCBI]
|
3.26549e-05
|
|
|
TMEM113
|
[NCBI]
|
3.15118e-05
|
|
|
endonuclease viii-like 3
|
[NCBI]
|
3.15118e-05
|
|
|
POLQ
|
[NCBI]
|
3.15118e-05
|
|
|
OTC
|
[NCBI]
|
3.11506e-05
|
|
|
TP53
|
[NCBI]
|
3.02899e-05
|
|
|
SLE
|
[NCBI]
|
2.94468e-05
|
|
|
PDE6H
|
[NCBI]
|
2.87136e-05
|
|
|
SETD1A
|
[NCBI]
|
2.87136e-05
|
|
|
USP26
|
[NCBI]
|
2.87136e-05
|
|
|
MJD
|
[NCBI]
|
2.76806e-05
|
|
|
KLF12
|
[NCBI]
|
2.68977e-05
|
|
|
CXXC1
|
[NCBI]
|
2.55484e-05
|
|
|
RAD54L
|
[NCBI]
|
2.55484e-05
|
|
|
CRC
|
[NCBI]
|
2.49934e-05
|
|
|
CDKN2A
|
[NCBI]
|
2.43902e-05
|
|
|
PCK1
|
[NCBI]
|
2.35809e-05
|
|
|
leber optic atrophy
|
[NCBI]
|
2.34541e-05
|
|
|
MTTE
|
[NCBI]
|
2.2817e-05
|
|
|
PI5
|
[NCBI]
|
2.2817e-05
|
|
|
MPG
|
[NCBI]
|
2.21496e-05
|
|
|
MBD4
|
[NCBI]
|
2.21496e-05
|
|
|
VRK1
|
[NCBI]
|
2.21496e-05
|
|
|
CF
|
[NCBI]
|
2.17933e-05
|
|
|
RAB7
|
[NCBI]
|
2.15571e-05
|
|
|
FCER1A
|
[NCBI]
|
2.15571e-05
|
|
|
DSC3
|
[NCBI]
|
2.15571e-05
|
|
|
BL
|
[NCBI]
|
2.12732e-05
|
|
|
MEG3
|
[NCBI]
|
2.10244e-05
|
|
|
HMBS
|
[NCBI]
|
2.05896e-05
|
|
|
PCBP2
|
[NCBI]
|
2.05406e-05
|
|
|
PAX9
|
[NCBI]
|
2.05406e-05
|
|
|
CNTFR
|
[NCBI]
|
2.00976e-05
|
|
|
TFAP2A
|
[NCBI]
|
2.00976e-05
|
|
|
RASSF1
|
[NCBI]
|
1.9689e-05
|
|
|
HGD
|
[NCBI]
|
1.9689e-05
|
|
|
LDLRAP1
|
[NCBI]
|
1.9689e-05
|
|
|
DNMT1
|
[NCBI]
|
1.93769e-05
|
|
|
MBD2
|
[NCBI]
|
1.93099e-05
|
|
|
HEMB
|
[NCBI]
|
1.92157e-05
|
|
|
FOS
|
[NCBI]
|
1.89563e-05
|
|
|
NF1
|
[NCBI]
|
1.86977e-05
|
|
|
AGXT
|
[NCBI]
|
1.86252e-05
|
|
|
CTNS
|
[NCBI]
|
1.86252e-05
|
|
|
AT
|
[NCBI]
|
1.84012e-05
|
|
|
SGCE
|
[NCBI]
|
1.83137e-05
|
|
|
FOXL2
|
[NCBI]
|
1.7226e-05
|
|
|
EGF
|
[NCBI]
|
1.71343e-05
|
|
|
NR3C2
|
[NCBI]
|
1.69862e-05
|
|
|
GLUD1
|
[NCBI]
|
1.6757e-05
|
|
|
MTND2
|
[NCBI]
|
1.61248e-05
|
|
|
FGFR3
|
[NCBI]
|
1.60096e-05
|
|
|
SLC25A20
|
[NCBI]
|
1.57425e-05
|
|
|
IPF1
|
[NCBI]
|
1.55616e-05
|
|
|
TFF1
|
[NCBI]
|
1.53867e-05
|
|
|
DNMT3B
|
[NCBI]
|
1.47417e-05
|
|
|
IKBKG
|
[NCBI]
|
1.45924e-05
|
|
|
SNRPN
|
[NCBI]
|
1.44473e-05
|
|
|
APOC2
|
[NCBI]
|
1.43063e-05
|
|
|
GRPR
|
[NCBI]
|
1.43063e-05
|
|
|
NOD2
|
[NCBI]
|
1.43063e-05
|
|
|
PROS1
|
[NCBI]
|
1.39053e-05
|
|
|
IL13
|
[NCBI]
|
1.39053e-05
|
|
|
ALD
|
[NCBI]
|
1.37215e-05
|
|
|
H19
|
[NCBI]
|
1.36546e-05
|
|
|
DHFR
|
[NCBI]
|
1.36528e-05
|
|
|
RELN
|
[NCBI]
|
1.30776e-05
|
|
|
transcobalamin ii deficiency
|
[NCBI]
|
1.30776e-05
|
|
|
HEXB
|
[NCBI]
|
1.28641e-05
|
|
|
IFNG
|
[NCBI]
|
1.27608e-05
|
|
|
MTND1
|
[NCBI]
|
1.24629e-05
|
|
|
PKD2
|
[NCBI]
|
1.22738e-05
|
|
|
PGK1
|
[NCBI]
|
1.18304e-05
|
|
|
BTC
|
[NCBI]
|
1.13464e-05
|
|
|
ARSA
|
[NCBI]
|
1.08365e-05
|
|
|
THRB
|
[NCBI]
|
1.06334e-05
|
|
|
TNF
|
[NCBI]
|
1.05482e-05
|
|
|
NGFB
|
[NCBI]
|
1.05182e-05
|
|
|
RYR1
|
[NCBI]
|
1.05026e-05
|
|
|
IL10
|
[NCBI]
|
1.0313e-05
|
|
|
MTR
|
[NCBI]
|
9.95488e-06
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
9.84129e-06
|
|
|
PWS
|
[NCBI]
|
9.59411e-06
|
|
|
PABPC1
|
[NCBI]
|
9.46408e-06
|
|
|
AIRE
|
[NCBI]
|
9.31129e-06
|
|
|
LIPC
|
[NCBI]
|
9.16338e-06
|
|
|
TYR
|
[NCBI]
|
9.11511e-06
|
|
|
ABCC2
|
[NCBI]
|
8.7907e-06
|
|
|
ATM
|
[NCBI]
|
8.70208e-06
|
|
|
GUSB
|
[NCBI]
|
8.65841e-06
|
|
|
PPARG
|
[NCBI]
|
8.44616e-06
|
|
|
RP
|
[NCBI]
|
8.35397e-06
|
|
|
CFH
|
[NCBI]
|
8.12608e-06
|
|
|
SOD2
|
[NCBI]
|
7.94155e-06
|
|
|
von willebrand disease
|
[NCBI]
|
7.75586e-06
|
|
|
INSR
|
[NCBI]
|
7.68541e-06
|
|
|
HBA2
|
[NCBI]
|
7.38175e-06
|
|
|
FGFR2
|
[NCBI]
|
6.8036e-06
|
|
|
FMF
|
[NCBI]
|
6.70535e-06
|
|
|
IL6
|
[NCBI]
|
6.29563e-06
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
6.21335e-06
|
|
|
HFE
|
[NCBI]
|
6.19627e-06
|
|
|
APP
|
[NCBI]
|
6.14749e-06
|
|
|
GJB2
|
[NCBI]
|
6.12332e-06
|
|
|
COMT
|
[NCBI]
|
5.97343e-06
|
|
|
CEACAM5
|
[NCBI]
|
5.05195e-06
|
|
|
VEGF
|
[NCBI]
|
4.91852e-06
|
|
|
GHR
|
[NCBI]
|
4.35879e-06
|
|
|
APRT
|
[NCBI]
|
4.32885e-06
|
|
|
TH
|
[NCBI]
|
4.22909e-06
|
|
|
APOB
|
[NCBI]
|
4.17433e-06
|
|
|
APC
|
[NCBI]
|
4.05254e-06
|
|
|
CFTR
|
[NCBI]
|
3.79103e-06
|
|
|
IAPP
|
[NCBI]
|
3.7053e-06
|
|
|
VIP
|
[NCBI]
|
2.87769e-06
|
|
|
ABCC1
|
[NCBI]
|
2.41112e-06
|
|
|
TG
|
[NCBI]
|
2.21595e-06
|
|
|
VDR
|
[NCBI]
|
2.07375e-06
|
|
|
AFP
|
[NCBI]
|
1.51115e-06
|
|
|
TLR4
|
[NCBI]
|
1.49925e-06
|
|
|
PTHLH
|
[NCBI]
|
7.92727e-07
|
|
|
TTR
|
[NCBI]
|
6.90682e-07
|
|
|
CAT
|
[NCBI]
|
6.31113e-07
|
|
|
SLC6A3
|
[NCBI]
|
5.42555e-07
|
|
|
PCNA
|
[NCBI]
|
4.35186e-07
|
|
|
AHR
|
[NCBI]
|
3.64924e-07
|
|
|
TYMS
|
[NCBI]
|
1.20362e-07
|
|
|
ADA
|
[NCBI]
|
1.67453e-08
|
|
|
MPO
|
[NCBI]
|
1.30362e-08
|
|