|
OMIM |
Link |
Information gain |
01 |
|
IS1
|
[NCBI]
|
0.00212881
|
|
|
PTH
|
[NCBI]
|
0.00119621
|
|
|
chiari malformation type ii
|
[NCBI]
|
0.00114987
|
|
|
spondyloepiphyseal dysplasia tarda, autosomal recessive
|
[NCBI]
|
0.00088511
|
|
|
klippel-feil syndrome, autosomal dominant
|
[NCBI]
|
0.000720912
|
|
|
stature quantitative trait locus 3
|
[NCBI]
|
0.000720912
|
|
|
brachydactyly-mental retardation syndrome
|
[NCBI]
|
0.000720912
|
|
|
sprengel deformity
|
[NCBI]
|
0.000720912
|
|
|
costovertebral segmentation anomalies
|
[NCBI]
|
0.000720912
|
|
|
spondyloepimetaphyseal dysplasia, sponastrime type
|
[NCBI]
|
0.00067303
|
|
|
spondyloepiphyseal dysplasia tarda, autosomal dominant
|
[NCBI]
|
0.00067303
|
|
|
kyphomelic dysplasia
|
[NCBI]
|
0.000634966
|
|
|
BMND3
|
[NCBI]
|
0.000603389
|
|
|
progeroid syndrome, neonatal
|
[NCBI]
|
0.000603389
|
|
|
GO
|
[NCBI]
|
0.000576422
|
|
|
ACG1A
|
[NCBI]
|
0.000513354
|
|
|
IHH
|
[NCBI]
|
0.000495298
|
|
|
weaver syndrome
|
[NCBI]
|
0.000464375
|
|
|
SRS
|
[NCBI]
|
0.000418477
|
|
|
ACP5
|
[NCBI]
|
0.000409451
|
|
|
CCD
|
[NCBI]
|
0.000397633
|
|
|
ACH
|
[NCBI]
|
0.000348016
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
0.00031346
|
|
|
BGLAP
|
[NCBI]
|
0.000189059
|
|
|
BOCD
|
[NCBI]
|
0.000174795
|
|
|
FGFR3
|
[NCBI]
|
0.000171819
|
|
|
PTHLH
|
[NCBI]
|
0.000166329
|
|
|
LPI
|
[NCBI]
|
0.000164375
|
|
|
ISS
|
[NCBI]
|
0.000155393
|
|
|
RA
|
[NCBI]
|
0.000153712
|
|
|
osteogenesis imperfecta, type iv
|
[NCBI]
|
0.000142452
|
|
|
osteogenesis imperfecta, type iii
|
[NCBI]
|
0.000138273
|
|
|
SPP1
|
[NCBI]
|
0.00012932
|
|
|
HCH
|
[NCBI]
|
0.000118501
|
|
|
FOP
|
[NCBI]
|
0.000111945
|
|
|
TNFRSF11B
|
[NCBI]
|
9.73101e-05
|
|
|
OPTB4
|
[NCBI]
|
9.67446e-05
|
|
|
camptodactyly, tall stature, and hearing loss syndrome
|
[NCBI]
|
9.67446e-05
|
|
|
spondyloperipheral dysplasia
|
[NCBI]
|
8.99605e-05
|
|
|
marshall-smith syndrome
|
[NCBI]
|
8.99605e-05
|
|
|
shprintzen-goldberg craniosynostosis syndrome
|
[NCBI]
|
8.4922e-05
|
|
|
STL3
|
[NCBI]
|
8.4922e-05
|
|
|
MAS
|
[NCBI]
|
8.22518e-05
|
|
|
BDE
|
[NCBI]
|
8.09116e-05
|
|
|
osseous heteroplasia, progressive
|
[NCBI]
|
8.09116e-05
|
|
|
HHRH
|
[NCBI]
|
7.75805e-05
|
|
|
SOST
|
[NCBI]
|
7.4772e-05
|
|
|
AMDM
|
[NCBI]
|
7.47322e-05
|
|
|
RNS
|
[NCBI]
|
7.2245e-05
|
|
|
JWS
|
[NCBI]
|
7.0038e-05
|
|
|
hyperostosis corticalis generalisata
|
[NCBI]
|
7.0038e-05
|
|
|
marshall syndrome
|
[NCBI]
|
6.80548e-05
|
|
|
BDC
|
[NCBI]
|
6.80548e-05
|
|
|
OSMED
|
[NCBI]
|
6.80548e-05
|
|
|
SEDT
|
[NCBI]
|
6.62547e-05
|
|
|
osteoporosis, juvenile
|
[NCBI]
|
6.62547e-05
|
|
|
MCDS
|
[NCBI]
|
6.46068e-05
|
|
|
LDS
|
[NCBI]
|
6.46068e-05
|
|
|
cutis laxa, autosomal recessive, type i
|
[NCBI]
|
6.46068e-05
|
|
|
chromosome 18q deletion syndrome
|
[NCBI]
|
6.46068e-05
|
|
|
VDR
|
[NCBI]
|
6.38239e-05
|
|
|
PALS
|
[NCBI]
|
6.16793e-05
|
|
|
hypophosphatasia, adult type
|
[NCBI]
|
6.16793e-05
|
|
|
CMTC
|
[NCBI]
|
6.16793e-05
|
|
|
AIS
|
[NCBI]
|
6.08088e-05
|
|
|
diabetes insipidus, neurohypophyseal type
|
[NCBI]
|
6.03663e-05
|
|
|
PFM
|
[NCBI]
|
6.03663e-05
|
|
|
hyperlipoproteinemia, type i
|
[NCBI]
|
5.9137e-05
|
|
|
STC1
|
[NCBI]
|
5.82274e-05
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
5.3951e-05
|
|
|
faciogenital dysplasia
|
[NCBI]
|
5.3951e-05
|
|
|
PHEX
|
[NCBI]
|
5.27259e-05
|
|
|
CRMO
|
[NCBI]
|
5.22161e-05
|
|
|
RUNX2
|
[NCBI]
|
5.17924e-05
|
|
|
NPPC
|
[NCBI]
|
5.16724e-05
|
|
|
EVC
|
[NCBI]
|
4.98797e-05
|
|
|
hypophosphatasia, infantile
|
[NCBI]
|
4.78019e-05
|
|
|
GCPS
|
[NCBI]
|
4.42343e-05
|
|
|
vitamin d-dependent rickets, type ii
|
[NCBI]
|
4.42343e-05
|
|
|
OGN
|
[NCBI]
|
4.34403e-05
|
|
|
FGFR2
|
[NCBI]
|
4.23748e-05
|
|
|
hypophosphatemic rickets, x-linked dominant
|
[NCBI]
|
4.21899e-05
|
|
|
sotos syndrome
|
[NCBI]
|
3.99202e-05
|
|
|
LWD
|
[NCBI]
|
3.94986e-05
|
|
|
BMP2
|
[NCBI]
|
3.94543e-05
|
|
|
BWS
|
[NCBI]
|
3.94538e-05
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
3.90868e-05
|
|
|
COL2A1
|
[NCBI]
|
3.66584e-05
|
|
|
TNF
|
[NCBI]
|
3.46418e-05
|
|
|
SP7
|
[NCBI]
|
3.43632e-05
|
|
|
TD1
|
[NCBI]
|
3.38404e-05
|
|
|
gaucher disease, type i
|
[NCBI]
|
3.38404e-05
|
|
|
PSACH
|
[NCBI]
|
3.15798e-05
|
|
|
SDS
|
[NCBI]
|
3.10588e-05
|
|
|
AHO
|
[NCBI]
|
3.03064e-05
|
|
|
PTHR1
|
[NCBI]
|
3.02686e-05
|
|
|
EMILIN3
|
[NCBI]
|
3.00244e-05
|
|
|
MEPE
|
[NCBI]
|
3.00244e-05
|
|
|
CF
|
[NCBI]
|
2.78795e-05
|
|
|
MDFI
|
[NCBI]
|
2.69209e-05
|
|
|
PRKG2
|
[NCBI]
|
2.69209e-05
|
|
|
PRRX2
|
[NCBI]
|
2.69209e-05
|
|
|
OSTN
|
[NCBI]
|
2.69209e-05
|
|
|
WNT9A
|
[NCBI]
|
2.49089e-05
|
|
|
EBF2
|
[NCBI]
|
2.49089e-05
|
|
|
SPARC
|
[NCBI]
|
2.36584e-05
|
|
|
LECT1
|
[NCBI]
|
2.34152e-05
|
|
|
FAM20C
|
[NCBI]
|
2.34152e-05
|
|
|
SHOX2
|
[NCBI]
|
2.34152e-05
|
|
|
GDF6
|
[NCBI]
|
2.34152e-05
|
|
|
CTNNB1
|
[NCBI]
|
2.31581e-05
|
|
|
THRB
|
[NCBI]
|
2.23734e-05
|
|
|
SMS
|
[NCBI]
|
2.22269e-05
|
|
|
SOX5
|
[NCBI]
|
2.22269e-05
|
|
|
TWIST2
|
[NCBI]
|
2.22269e-05
|
|
|
GDF7
|
[NCBI]
|
2.22269e-05
|
|
|
DACH1
|
[NCBI]
|
2.22269e-05
|
|
|
SHH
|
[NCBI]
|
2.18687e-05
|
|
|
PMX1
|
[NCBI]
|
2.12402e-05
|
|
|
NPR3
|
[NCBI]
|
2.12402e-05
|
|
|
IL1R1
|
[NCBI]
|
2.12402e-05
|
|
|
SOX6
|
[NCBI]
|
2.12402e-05
|
|
|
IL11
|
[NCBI]
|
2.0397e-05
|
|
|
CMKLR1
|
[NCBI]
|
1.96609e-05
|
|
|
RORA
|
[NCBI]
|
1.84217e-05
|
|
|
FGF18
|
[NCBI]
|
1.84217e-05
|
|
|
FGD1
|
[NCBI]
|
1.84217e-05
|
|
|
NPPB
|
[NCBI]
|
1.84217e-05
|
|
|
MMP14
|
[NCBI]
|
1.78897e-05
|
|
|
EIF2AK3
|
[NCBI]
|
1.78897e-05
|
|
|
ACHE
|
[NCBI]
|
1.78358e-05
|
|
|
TNFSF11
|
[NCBI]
|
1.76135e-05
|
|
|
MATN3
|
[NCBI]
|
1.74029e-05
|
|
|
CLCN7
|
[NCBI]
|
1.74029e-05
|
|
|
GDF11
|
[NCBI]
|
1.74029e-05
|
|
|
AEBP1
|
[NCBI]
|
1.74029e-05
|
|
|
TH
|
[NCBI]
|
1.71945e-05
|
|
|
ESR1
|
[NCBI]
|
1.70605e-05
|
|
|
TRAPPC2
|
[NCBI]
|
1.69544e-05
|
|
|
FLNB
|
[NCBI]
|
1.69544e-05
|
|
|
MSX2
|
[NCBI]
|
1.69544e-05
|
|
|
SLOS
|
[NCBI]
|
1.67674e-05
|
|
|
WBS
|
[NCBI]
|
1.67674e-05
|
|
|
EFNB1
|
[NCBI]
|
1.65387e-05
|
|
|
PTN
|
[NCBI]
|
1.65373e-05
|
|
|
EGF
|
[NCBI]
|
1.63967e-05
|
|
|
IGFALS
|
[NCBI]
|
1.62036e-05
|
|
|
COL11A1
|
[NCBI]
|
1.54482e-05
|
|
|
ROR2
|
[NCBI]
|
1.54482e-05
|
|
|
NSD1
|
[NCBI]
|
1.54482e-05
|
|
|
EXT2
|
[NCBI]
|
1.51271e-05
|
|
|
IL6ST
|
[NCBI]
|
1.51271e-05
|
|
|
FOXC1
|
[NCBI]
|
1.51271e-05
|
|
|
TGFBR1
|
[NCBI]
|
1.51271e-05
|
|
|
PAPPA
|
[NCBI]
|
1.51271e-05
|
|
|
COL11A2
|
[NCBI]
|
1.48234e-05
|
|
|
3-@beta-hydroxysteroid dehydrogenase, type ii, deficiency of
|
[NCBI]
|
1.48234e-05
|
|
|
LRP2
|
[NCBI]
|
1.48234e-05
|
|
|
NFATC1
|
[NCBI]
|
1.45354e-05
|
|
|
EGFR
|
[NCBI]
|
1.44367e-05
|
|
|
TBX5
|
[NCBI]
|
1.42616e-05
|
|
|
CUBN
|
[NCBI]
|
1.42616e-05
|
|
|
IL1RN
|
[NCBI]
|
1.40006e-05
|
|
|
ANXA5
|
[NCBI]
|
1.37515e-05
|
|
|
FOS
|
[NCBI]
|
1.37515e-05
|
|
|
GHRH
|
[NCBI]
|
1.36504e-05
|
|
|
LRP5
|
[NCBI]
|
1.32846e-05
|
|
|
FGF4
|
[NCBI]
|
1.30653e-05
|
|
|
HDAC4
|
[NCBI]
|
1.28545e-05
|
|
|
CTSK
|
[NCBI]
|
1.28545e-05
|
|
|
GJA5
|
[NCBI]
|
1.28545e-05
|
|
|
AHSG
|
[NCBI]
|
1.28545e-05
|
|
|
PRL
|
[NCBI]
|
1.21472e-05
|
|
|
TGFBR2
|
[NCBI]
|
1.20848e-05
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
1.1898e-05
|
|
|
COL10A1
|
[NCBI]
|
1.17377e-05
|
|
|
GDF5
|
[NCBI]
|
1.12561e-05
|
|
|
ESR2
|
[NCBI]
|
1.09579e-05
|
|
|
BGN
|
[NCBI]
|
1.09579e-05
|
|
|
SHOX
|
[NCBI]
|
1.08149e-05
|
|
|
KLK3
|
[NCBI]
|
1.07828e-05
|
|
|
LIFR
|
[NCBI]
|
1.04081e-05
|
|
|
HIF1A
|
[NCBI]
|
1.04081e-05
|
|
|
MST1
|
[NCBI]
|
1.04081e-05
|
|
|
CTGF
|
[NCBI]
|
1.02078e-05
|
|
|
SLC6A6
|
[NCBI]
|
1.01536e-05
|
|
|
PCNA
|
[NCBI]
|
1.00425e-05
|
|
|
SOX9
|
[NCBI]
|
1.0031e-05
|
|
|
LHCGR
|
[NCBI]
|
8.94475e-06
|
|
|
APOE
|
[NCBI]
|
8.86664e-06
|
|
|
MPO
|
[NCBI]
|
8.85232e-06
|
|
|
GHR
|
[NCBI]
|
8.67464e-06
|
|
|
NPY
|
[NCBI]
|
8.38597e-06
|
|
|
CYP19A1
|
[NCBI]
|
8.13685e-06
|
|
|
TGFB1
|
[NCBI]
|
7.89511e-06
|
|
|
GPI
|
[NCBI]
|
7.64173e-06
|
|
|
polycystic kidneys
|
[NCBI]
|
6.87245e-06
|
|
|
VHL
|
[NCBI]
|
6.54273e-06
|
|
|
LPL
|
[NCBI]
|
6.29564e-06
|
|
|
FGF1
|
[NCBI]
|
6.04647e-06
|
|
|
PTGS2
|
[NCBI]
|
5.79383e-06
|
|
|
AR
|
[NCBI]
|
4.83423e-06
|
|
|
NPPA
|
[NCBI]
|
4.71638e-06
|
|
|
GNRH1
|
[NCBI]
|
4.39862e-06
|
|
|
FGF2
|
[NCBI]
|
3.7447e-06
|
|
|
LEP
|
[NCBI]
|
3.63288e-06
|
|
|
HFE
|
[NCBI]
|
2.90089e-06
|
|
|
PEDF
|
[NCBI]
|
2.73282e-06
|
|
|
VIP
|
[NCBI]
|
1.6177e-06
|
|
|
HDC
|
[NCBI]
|
1.55707e-06
|
|
|
LRP1
|
[NCBI]
|
9.82061e-07
|
|
|
INS
|
[NCBI]
|
9.23741e-07
|
|
|
PWS
|
[NCBI]
|
6.4808e-07
|
|
|
AHR
|
[NCBI]
|
5.01386e-07
|
|
|
HBB
|
[NCBI]
|
3.73506e-07
|
|
|
TF
|
[NCBI]
|
1.87959e-07
|
|
|
VEGF
|
[NCBI]
|
1.56505e-07
|
|