|
OMIM |
Link |
Information gain |
01 |
|
HBD
|
[NCBI]
|
0.0110626
|
|
|
PTH
|
[NCBI]
|
0.0105192
|
|
|
pseudohypoparathyroidism, type ii
|
[NCBI]
|
0.00465908
|
|
|
hypophosphatemic rickets, x-linked dominant
|
[NCBI]
|
0.00360126
|
|
|
osteogenesis imperfecta, type v
|
[NCBI]
|
0.00178344
|
|
|
fanconi renotubular syndrome
|
[NCBI]
|
0.00117372
|
|
|
HFTC
|
[NCBI]
|
0.00102914
|
|
|
HHS
|
[NCBI]
|
0.00100467
|
|
|
HHRH
|
[NCBI]
|
0.000814076
|
|
|
FGF23
|
[NCBI]
|
0.000700304
|
|
|
ADHR
|
[NCBI]
|
0.000665481
|
|
|
RA
|
[NCBI]
|
0.000528141
|
|
|
MAS
|
[NCBI]
|
0.000495323
|
|
|
AHO
|
[NCBI]
|
0.000335215
|
|
|
hypophosphatemic rickets, autosomal recessive
|
[NCBI]
|
0.00027866
|
|
|
SLE
|
[NCBI]
|
0.000256118
|
|
|
dent disease 1
|
[NCBI]
|
0.000242928
|
|
|
vitamin d-dependent rickets, type i
|
[NCBI]
|
0.000238403
|
|
|
PHEX
|
[NCBI]
|
0.000203442
|
|
|
HCA2
|
[NCBI]
|
0.000165028
|
|
|
glycogen storage disease ic
|
[NCBI]
|
0.000165028
|
|
|
TNF
|
[NCBI]
|
0.000146614
|
|
|
VEGF
|
[NCBI]
|
0.000144726
|
|
|
phosphatase, acid, of tissues
|
[NCBI]
|
0.000139249
|
|
|
mitochondrial phosphate carrier deficiency
|
[NCBI]
|
0.000139249
|
|
|
lactic acidosis, chronic adult form
|
[NCBI]
|
0.000139249
|
|
|
metaphyseal anadysplasia
|
[NCBI]
|
0.000139249
|
|
|
phosphoribosylpyrophosphate synthetase superactivity
|
[NCBI]
|
0.000126935
|
|
|
FIH
|
[NCBI]
|
0.000111122
|
|
|
SLC34A1
|
[NCBI]
|
0.000110779
|
|
|
STC1
|
[NCBI]
|
0.00011063
|
|
|
hypophosphatasia, infantile
|
[NCBI]
|
0.000109677
|
|
|
hyperoxaluria, primary, type i
|
[NCBI]
|
0.00010828
|
|
|
renal tubular acidosis iii
|
[NCBI]
|
0.000107708
|
|
|
SLC25A3
|
[NCBI]
|
0.000104845
|
|
|
HHC1
|
[NCBI]
|
0.000101911
|
|
|
GALNT3
|
[NCBI]
|
0.000101579
|
|
|
CF
|
[NCBI]
|
9.62217e-05
|
|
|
OGD
|
[NCBI]
|
9.58345e-05
|
|
|
NFTC
|
[NCBI]
|
9.58345e-05
|
|
|
metaphyseal chondrodysplasia, jansen type
|
[NCBI]
|
8.81416e-05
|
|
|
indifference to pain, congenital, autosomal recessive
|
[NCBI]
|
7.78961e-05
|
|
|
renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
|
[NCBI]
|
7.78961e-05
|
|
|
HRD
|
[NCBI]
|
7.41307e-05
|
|
|
thyrotoxic periodic paralysis
|
[NCBI]
|
7.09146e-05
|
|
|
KLK3
|
[NCBI]
|
6.92551e-05
|
|
|
renal tubular acidosis, distal, autosomal dominant
|
[NCBI]
|
6.81091e-05
|
|
|
LS
|
[NCBI]
|
6.68954e-05
|
|
|
EGFR
|
[NCBI]
|
6.48967e-05
|
|
|
hexokinase deficiency hemolytic anemia
|
[NCBI]
|
6.33901e-05
|
|
|
NSHPT
|
[NCBI]
|
6.33901e-05
|
|
|
DMP1
|
[NCBI]
|
6.31463e-05
|
|
|
NPY
|
[NCBI]
|
6.20397e-05
|
|
|
PRL
|
[NCBI]
|
6.15565e-05
|
|
|
CEACAM5
|
[NCBI]
|
6.06505e-05
|
|
|
CRH
|
[NCBI]
|
5.94303e-05
|
|
|
trifunctional protein deficiency
|
[NCBI]
|
5.78111e-05
|
|
|
hypouricemia, renal
|
[NCBI]
|
5.78111e-05
|
|
|
camurati-engelmann disease
|
[NCBI]
|
5.62324e-05
|
|
|
PTHLH
|
[NCBI]
|
5.40779e-05
|
|
|
osteogenesis imperfecta, type iv
|
[NCBI]
|
5.33878e-05
|
|
|
CASR
|
[NCBI]
|
5.29585e-05
|
|
|
HRPT1
|
[NCBI]
|
5.2097e-05
|
|
|
osteogenesis imperfecta, type iii
|
[NCBI]
|
5.08808e-05
|
|
|
CCK
|
[NCBI]
|
4.90553e-05
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
4.86419e-05
|
|
|
CRMO
|
[NCBI]
|
4.76069e-05
|
|
|
hemoglobin--variants for which the chain carrying the mutation is unknown or uncertain
|
[NCBI]
|
4.76069e-05
|
|
|
MPO
|
[NCBI]
|
4.64301e-05
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
4.22999e-05
|
|
|
ED1
|
[NCBI]
|
4.15364e-05
|
|
|
SLC34A3
|
[NCBI]
|
4.11458e-05
|
|
|
obesity
|
[NCBI]
|
4.08009e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
3.84378e-05
|
|
|
BDNF
|
[NCBI]
|
3.70548e-05
|
|
|
ACHE
|
[NCBI]
|
3.52444e-05
|
|
|
HYPP
|
[NCBI]
|
3.41338e-05
|
|
|
VIP
|
[NCBI]
|
3.40579e-05
|
|
|
CTNS
|
[NCBI]
|
3.17333e-05
|
|
|
CAT
|
[NCBI]
|
3.13301e-05
|
|
|
PCNA
|
[NCBI]
|
3.13214e-05
|
|
|
vitamin d-dependent rickets, type ii
|
[NCBI]
|
3.12884e-05
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
3.08924e-05
|
|
|
CHAT
|
[NCBI]
|
3.07124e-05
|
|
|
AR
|
[NCBI]
|
3.03445e-05
|
|
|
mucolipidosis ii
|
[NCBI]
|
3.00151e-05
|
|
|
PIGX
|
[NCBI]
|
2.9548e-05
|
|
|
SLC17A4
|
[NCBI]
|
2.9548e-05
|
|
|
TH
|
[NCBI]
|
2.89176e-05
|
|
|
diphosphoglycerate mutase deficiency of erythrocyte
|
[NCBI]
|
2.8613e-05
|
|
|
DDX58
|
[NCBI]
|
2.8613e-05
|
|
|
BGLAP
|
[NCBI]
|
2.80662e-05
|
|
|
HGF
|
[NCBI]
|
2.80044e-05
|
|
|
galactosemia
|
[NCBI]
|
2.73543e-05
|
|
|
JMML
|
[NCBI]
|
2.56744e-05
|
|
|
ADSL
|
[NCBI]
|
2.52302e-05
|
|
|
MEN2A
|
[NCBI]
|
2.47405e-05
|
|
|
NGFB
|
[NCBI]
|
2.41671e-05
|
|
|
DCK
|
[NCBI]
|
2.39165e-05
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
2.3856e-05
|
|
|
CGD
|
[NCBI]
|
2.35713e-05
|
|
|
GPI
|
[NCBI]
|
2.16808e-05
|
|
|
PNKP
|
[NCBI]
|
2.10783e-05
|
|
|
SLC17A7
|
[NCBI]
|
2.03557e-05
|
|
|
LPI
|
[NCBI]
|
2.0268e-05
|
|
|
AVP
|
[NCBI]
|
2.00913e-05
|
|
|
H6PD
|
[NCBI]
|
1.99361e-05
|
|
|
MEN1
|
[NCBI]
|
1.99361e-05
|
|
|
GAS
|
[NCBI]
|
1.96842e-05
|
|
|
fructosamine 3-kinase-related protein
|
[NCBI]
|
1.93656e-05
|
|
|
MB
|
[NCBI]
|
1.82271e-05
|
|
|
VDR
|
[NCBI]
|
1.8078e-05
|
|
|
ARHGDIB
|
[NCBI]
|
1.75675e-05
|
|
|
SPP2
|
[NCBI]
|
1.75675e-05
|
|
|
wilson disease
|
[NCBI]
|
1.75522e-05
|
|
|
DGS
|
[NCBI]
|
1.75522e-05
|
|
|
TPI1
|
[NCBI]
|
1.69042e-05
|
|
|
EPO
|
[NCBI]
|
1.65808e-05
|
|
|
DHFR
|
[NCBI]
|
1.63876e-05
|
|
|
GBP1
|
[NCBI]
|
1.6236e-05
|
|
|
ATP5C1
|
[NCBI]
|
1.6236e-05
|
|
|
MTHFD2
|
[NCBI]
|
1.6236e-05
|
|
|
ATP5A1
|
[NCBI]
|
1.6236e-05
|
|
|
GLS
|
[NCBI]
|
1.6236e-05
|
|
|
SLC20A1
|
[NCBI]
|
1.6236e-05
|
|
|
TNFRSF11B
|
[NCBI]
|
1.60136e-05
|
|
|
TG
|
[NCBI]
|
1.55832e-05
|
|
|
fructosuria
|
[NCBI]
|
1.51793e-05
|
|
|
G6PD
|
[NCBI]
|
1.43258e-05
|
|
|
SPHK2
|
[NCBI]
|
1.43041e-05
|
|
|
IL1R1
|
[NCBI]
|
1.43041e-05
|
|
|
EGF
|
[NCBI]
|
1.38264e-05
|
|
|
VDAC2
|
[NCBI]
|
1.35581e-05
|
|
|
MBP
|
[NCBI]
|
1.3409e-05
|
|
|
PTK2
|
[NCBI]
|
1.33974e-05
|
|
|
PXE
|
[NCBI]
|
1.29186e-05
|
|
|
NT5C3
|
[NCBI]
|
1.29085e-05
|
|
|
ANXA6
|
[NCBI]
|
1.29085e-05
|
|
|
PDZK1
|
[NCBI]
|
1.29085e-05
|
|
|
SHC1
|
[NCBI]
|
1.23338e-05
|
|
|
ATSV
|
[NCBI]
|
1.18189e-05
|
|
|
VDAC1
|
[NCBI]
|
1.18189e-05
|
|
|
ATP2A1
|
[NCBI]
|
1.1353e-05
|
|
|
SFRP4
|
[NCBI]
|
1.1353e-05
|
|
|
ACTG1
|
[NCBI]
|
1.1353e-05
|
|
|
IFIH1
|
[NCBI]
|
1.1353e-05
|
|
|
CFTR
|
[NCBI]
|
1.10737e-05
|
|
|
ANG
|
[NCBI]
|
1.09282e-05
|
|
|
EIF2S1
|
[NCBI]
|
1.09277e-05
|
|
|
PRPS1
|
[NCBI]
|
1.05369e-05
|
|
|
ATP5O
|
[NCBI]
|
1.01756e-05
|
|
|
PPP1R1B
|
[NCBI]
|
1.01756e-05
|
|
|
RAB27A
|
[NCBI]
|
9.52655e-06
|
|
|
HBB
|
[NCBI]
|
9.19395e-06
|
|
|
PFKM
|
[NCBI]
|
8.95678e-06
|
|
|
SMAD2
|
[NCBI]
|
8.45001e-06
|
|
|
EPB41
|
[NCBI]
|
8.21645e-06
|
|
|
SPP1
|
[NCBI]
|
8.05741e-06
|
|
|
IFNAR1
|
[NCBI]
|
7.99449e-06
|
|
|
CPD
|
[NCBI]
|
7.58147e-06
|
|
|
SLC12A3
|
[NCBI]
|
7.58147e-06
|
|
|
TAF1
|
[NCBI]
|
7.38875e-06
|
|
|
GSK3B
|
[NCBI]
|
7.38875e-06
|
|
|
ADA
|
[NCBI]
|
7.32804e-06
|
|
|
NPPA
|
[NCBI]
|
7.31865e-06
|
|
|
SLC17A6
|
[NCBI]
|
7.20427e-06
|
|
|
KL
|
[NCBI]
|
6.85767e-06
|
|
|
SLC25A20
|
[NCBI]
|
6.85767e-06
|
|
|
AHSG
|
[NCBI]
|
6.85767e-06
|
|
|
GAPDH
|
[NCBI]
|
6.60828e-06
|
|
|
SLC25A4
|
[NCBI]
|
6.53751e-06
|
|
|
CALCA
|
[NCBI]
|
6.53751e-06
|
|
|
IL1A
|
[NCBI]
|
6.24044e-06
|
|
|
GFAP
|
[NCBI]
|
5.99077e-06
|
|
|
PRG4
|
[NCBI]
|
5.96368e-06
|
|
|
AK1
|
[NCBI]
|
5.70496e-06
|
|
|
FRAP1
|
[NCBI]
|
4.93805e-06
|
|
|
MTCYB
|
[NCBI]
|
4.81595e-06
|
|
|
ALB
|
[NCBI]
|
4.72302e-06
|
|
|
glycogen storage disease i
|
[NCBI]
|
4.71847e-06
|
|
|
wolman disease
|
[NCBI]
|
4.62358e-06
|
|
|
FOLH1
|
[NCBI]
|
4.62358e-06
|
|
|
DMPK
|
[NCBI]
|
4.44114e-06
|
|
|
HS
|
[NCBI]
|
4.18433e-06
|
|
|
GNRH1
|
[NCBI]
|
4.04452e-06
|
|
|
MTAP
|
[NCBI]
|
4.02337e-06
|
|
|
MTND1
|
[NCBI]
|
4.02337e-06
|
|
|
TFPI
|
[NCBI]
|
3.99106e-06
|
|
|
SHBG
|
[NCBI]
|
3.98713e-06
|
|
|
ACADM
|
[NCBI]
|
3.97493e-06
|
|
|
PGM1
|
[NCBI]
|
3.8699e-06
|
|
|
UMOD
|
[NCBI]
|
3.58336e-06
|
|
|
NF1
|
[NCBI]
|
3.4169e-06
|
|
|
IGF1
|
[NCBI]
|
3.25894e-06
|
|
|
NP
|
[NCBI]
|
3.19809e-06
|
|
|
IL2
|
[NCBI]
|
3.16063e-06
|
|
|
SLC4A1
|
[NCBI]
|
2.60366e-06
|
|
|
AQP2
|
[NCBI]
|
2.60366e-06
|
|
|
CTGF
|
[NCBI]
|
2.50493e-06
|
|
|
LOX
|
[NCBI]
|
2.46228e-06
|
|
|
AD
|
[NCBI]
|
2.08138e-06
|
|
|
UCP3
|
[NCBI]
|
1.9679e-06
|
|
|
ACP5
|
[NCBI]
|
1.95421e-06
|
|
|
TYMS
|
[NCBI]
|
1.75601e-06
|
|
|
ACE
|
[NCBI]
|
1.69454e-06
|
|
|
CDK2
|
[NCBI]
|
1.55633e-06
|
|
|
MAG
|
[NCBI]
|
1.51253e-06
|
|
|
APRT
|
[NCBI]
|
1.35729e-06
|
|
|
FPGS
|
[NCBI]
|
1.28792e-06
|
|
|
IDE
|
[NCBI]
|
1.1413e-06
|
|
|
MAP2
|
[NCBI]
|
1.10704e-06
|
|
|
VIM
|
[NCBI]
|
1.07314e-06
|
|
|
PC
|
[NCBI]
|
1.07314e-06
|
|
|
PTN
|
[NCBI]
|
9.26344e-07
|
|
|
PAM
|
[NCBI]
|
9.06692e-07
|
|
|
ABCC8
|
[NCBI]
|
8.87354e-07
|
|
|
ACPP
|
[NCBI]
|
8.55905e-07
|
|
|
FGFR1
|
[NCBI]
|
8.49603e-07
|
|
|
RNASE2
|
[NCBI]
|
8.49603e-07
|
|
|
CP
|
[NCBI]
|
8.47215e-07
|
|
|
PG
|
[NCBI]
|
7.77673e-07
|
|
|
CD
|
[NCBI]
|
5.2663e-07
|
|
|
GJA1
|
[NCBI]
|
4.55766e-07
|
|
|
RASA1
|
[NCBI]
|
4.01808e-07
|
|
|
KITLG
|
[NCBI]
|
2.63446e-07
|
|
|
PNPLA6
|
[NCBI]
|
2.2323e-07
|
|
|
XDH
|
[NCBI]
|
1.76976e-07
|
|
|
NR1I2
|
[NCBI]
|
1.47787e-07
|
|
|
FA
|
[NCBI]
|
9.92362e-08
|
|
|
COMT
|
[NCBI]
|
4.03483e-08
|
|
|
TLR2
|
[NCBI]
|
1.49182e-08
|
|