|
OMIM |
Link |
Information gain |
01 |
|
ACG1A
|
[NCBI]
|
0.00446595
|
|
|
fibrochondrogenesis
|
[NCBI]
|
0.00274096
|
|
|
PSACH
|
[NCBI]
|
0.00219213
|
|
|
COMP
|
[NCBI]
|
0.00191447
|
|
|
spondyloepiphyseal dysplasia tarda, toledo type
|
[NCBI]
|
0.0018192
|
|
|
CHH
|
[NCBI]
|
0.00179051
|
|
|
HFM
|
[NCBI]
|
0.00174064
|
|
|
opsismodysplasia
|
[NCBI]
|
0.00168723
|
|
|
RA
|
[NCBI]
|
0.00125936
|
|
|
IHH
|
[NCBI]
|
0.00098496
|
|
|
OD
|
[NCBI]
|
0.000954719
|
|
|
acromicric dysplasia
|
[NCBI]
|
0.000905644
|
|
|
ACG2
|
[NCBI]
|
0.000855888
|
|
|
spondylometaphyseal dysplasia, sedaghatian type
|
[NCBI]
|
0.000789241
|
|
|
EXT3
|
[NCBI]
|
0.000789241
|
|
|
anencephaly
|
[NCBI]
|
0.000789241
|
|
|
ACG1B
|
[NCBI]
|
0.000756305
|
|
|
dyssegmental dysplasia, rolland-desbuquois type
|
[NCBI]
|
0.000713991
|
|
|
kniest dysplasia
|
[NCBI]
|
0.000673056
|
|
|
spondyloenchondrodysplasia
|
[NCBI]
|
0.000577513
|
|
|
maxillonasal dysplasia, binder type
|
[NCBI]
|
0.000546335
|
|
|
short rib-polydactyly syndrome, type iii
|
[NCBI]
|
0.000546335
|
|
|
SLE
|
[NCBI]
|
0.000523263
|
|
|
MCDS
|
[NCBI]
|
0.000496879
|
|
|
PTH
|
[NCBI]
|
0.000470328
|
|
|
SEDC
|
[NCBI]
|
0.000439682
|
|
|
AOI
|
[NCBI]
|
0.00043032
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.000405186
|
|
|
TD1
|
[NCBI]
|
0.00038721
|
|
|
campomelic dysplasia
|
[NCBI]
|
0.000337736
|
|
|
CF
|
[NCBI]
|
0.000320671
|
|
|
EDM1
|
[NCBI]
|
0.000263473
|
|
|
ATD1
|
[NCBI]
|
0.000254059
|
|
|
COL2A1
|
[NCBI]
|
0.000246761
|
|
|
COL10A1
|
[NCBI]
|
0.000227982
|
|
|
CCAL2
|
[NCBI]
|
0.000225698
|
|
|
PTHLH
|
[NCBI]
|
0.00021104
|
|
|
RMRP
|
[NCBI]
|
0.000199427
|
|
|
keutel syndrome
|
[NCBI]
|
0.000194518
|
|
|
chondronectin
|
[NCBI]
|
0.000151031
|
|
|
kniest-like dysplasia, lethal
|
[NCBI]
|
0.000151031
|
|
|
GDF5
|
[NCBI]
|
0.000148473
|
|
|
CPI
|
[NCBI]
|
0.000148354
|
|
|
ACP5
|
[NCBI]
|
0.00013818
|
|
|
pfeiffer syndrome
|
[NCBI]
|
0.000129766
|
|
|
PPAC
|
[NCBI]
|
0.000129766
|
|
|
OSM
|
[NCBI]
|
0.000126037
|
|
|
MATN3
|
[NCBI]
|
0.000124396
|
|
|
COL11A1
|
[NCBI]
|
0.000120956
|
|
|
CCD
|
[NCBI]
|
0.000116249
|
|
|
COL9A1
|
[NCBI]
|
0.00011513
|
|
|
SHH
|
[NCBI]
|
0.000114801
|
|
|
ACH
|
[NCBI]
|
0.000113925
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
0.000112524
|
|
|
nasal alar collapse, bilateral
|
[NCBI]
|
0.000111891
|
|
|
EDM5
|
[NCBI]
|
0.000111891
|
|
|
metaphyseal anadysplasia
|
[NCBI]
|
0.000111891
|
|
|
laryngomalacia
|
[NCBI]
|
0.000111891
|
|
|
MMP13
|
[NCBI]
|
0.000110308
|
|
|
SOX9
|
[NCBI]
|
0.000109028
|
|
|
LECT1
|
[NCBI]
|
9.96489e-05
|
|
|
mucopolysaccharidoses, unclassified types
|
[NCBI]
|
9.7203e-05
|
|
|
kniest-like dysplasia with pursed lips and ectopia lentis
|
[NCBI]
|
9.7203e-05
|
|
|
anauxetic dysplasia
|
[NCBI]
|
9.7203e-05
|
|
|
metaphyseal dysplasia without hypotrichosis
|
[NCBI]
|
9.7203e-05
|
|
|
bronchomalacia
|
[NCBI]
|
9.7203e-05
|
|
|
RCDP1
|
[NCBI]
|
9.43116e-05
|
|
|
FOP
|
[NCBI]
|
8.94858e-05
|
|
|
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
[NCBI]
|
8.77128e-05
|
|
|
PLSDT
|
[NCBI]
|
8.77128e-05
|
|
|
coloboma of macula with type b brachydactyly
|
[NCBI]
|
8.77128e-05
|
|
|
BDA2
|
[NCBI]
|
8.77128e-05
|
|
|
EDM3
|
[NCBI]
|
8.77128e-05
|
|
|
FGF18
|
[NCBI]
|
8.56789e-05
|
|
|
BMP2
|
[NCBI]
|
8.54192e-05
|
|
|
SMC
|
[NCBI]
|
8.06912e-05
|
|
|
EDM4
|
[NCBI]
|
8.06912e-05
|
|
|
winchester syndrome
|
[NCBI]
|
8.06912e-05
|
|
|
schneckenbecken dysplasia
|
[NCBI]
|
8.06912e-05
|
|
|
RCDP3
|
[NCBI]
|
7.51235e-05
|
|
|
OSMED
|
[NCBI]
|
7.51235e-05
|
|
|
boomerang dysplasia
|
[NCBI]
|
7.51235e-05
|
|
|
DSPG3
|
[NCBI]
|
7.26157e-05
|
|
|
CART1
|
[NCBI]
|
7.26157e-05
|
|
|
CTGF
|
[NCBI]
|
7.13256e-05
|
|
|
metaphyseal chondrodysplasia, jansen type
|
[NCBI]
|
7.05165e-05
|
|
|
SRS
|
[NCBI]
|
6.64376e-05
|
|
|
ITGA1
|
[NCBI]
|
6.64183e-05
|
|
|
CDKN1C
|
[NCBI]
|
6.57666e-05
|
|
|
SPARC
|
[NCBI]
|
6.39263e-05
|
|
|
BDB1
|
[NCBI]
|
6.01614e-05
|
|
|
alkaptonuria
|
[NCBI]
|
6.01614e-05
|
|
|
SEDT
|
[NCBI]
|
6.01614e-05
|
|
|
FGFR3
|
[NCBI]
|
5.98013e-05
|
|
|
COL9A3
|
[NCBI]
|
5.89176e-05
|
|
|
SEC23A
|
[NCBI]
|
5.89176e-05
|
|
|
SOX5
|
[NCBI]
|
5.89176e-05
|
|
|
CHAD
|
[NCBI]
|
5.89176e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
5.74606e-05
|
|
|
SOX6
|
[NCBI]
|
5.62795e-05
|
|
|
DMC
|
[NCBI]
|
5.50186e-05
|
|
|
HPE2
|
[NCBI]
|
5.50186e-05
|
|
|
osteoarthritis
|
[NCBI]
|
5.27921e-05
|
|
|
cerebrocostomandibular syndrome
|
[NCBI]
|
5.07478e-05
|
|
|
MMP14
|
[NCBI]
|
4.89504e-05
|
|
|
PAPSS2
|
[NCBI]
|
4.89504e-05
|
|
|
ehlers-danlos syndrome, type vii, autosomal recessive
|
[NCBI]
|
4.88595e-05
|
|
|
CACP
|
[NCBI]
|
4.88595e-05
|
|
|
CILP
|
[NCBI]
|
4.63528e-05
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
4.39415e-05
|
|
|
FGFRL1
|
[NCBI]
|
4.31677e-05
|
|
|
ITGA10
|
[NCBI]
|
4.31677e-05
|
|
|
COL22A1
|
[NCBI]
|
4.31677e-05
|
|
|
ARL8
|
[NCBI]
|
4.31677e-05
|
|
|
ehlers-danlos syndrome, type vi
|
[NCBI]
|
4.25039e-05
|
|
|
TNF
|
[NCBI]
|
4.22003e-05
|
|
|
hypophosphatasia, infantile
|
[NCBI]
|
3.98694e-05
|
|
|
OPTB1
|
[NCBI]
|
3.98694e-05
|
|
|
FOS
|
[NCBI]
|
3.98494e-05
|
|
|
ENPP1
|
[NCBI]
|
3.98494e-05
|
|
|
PRL
|
[NCBI]
|
3.83263e-05
|
|
|
PFM
|
[NCBI]
|
3.75059e-05
|
|
|
IS1
|
[NCBI]
|
3.67466e-05
|
|
|
FGFR2
|
[NCBI]
|
3.42447e-05
|
|
|
SPP1
|
[NCBI]
|
3.39363e-05
|
|
|
HDLBP
|
[NCBI]
|
3.3202e-05
|
|
|
NAB2
|
[NCBI]
|
3.3202e-05
|
|
|
ADAMTS5
|
[NCBI]
|
3.3202e-05
|
|
|
ADAMTS4
|
[NCBI]
|
3.3202e-05
|
|
|
NGFB
|
[NCBI]
|
3.22114e-05
|
|
|
TNFRSF11B
|
[NCBI]
|
3.19949e-05
|
|
|
SJS1
|
[NCBI]
|
3.16312e-05
|
|
|
BDNF
|
[NCBI]
|
2.9637e-05
|
|
|
SLC35D1
|
[NCBI]
|
2.94517e-05
|
|
|
LOXL4
|
[NCBI]
|
2.94517e-05
|
|
|
nitric oxide synthase, chondrocyte
|
[NCBI]
|
2.94517e-05
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
2.8459e-05
|
|
|
BGLAP
|
[NCBI]
|
2.77356e-05
|
|
|
MMP9
|
[NCBI]
|
2.75925e-05
|
|
|
POSTN
|
[NCBI]
|
2.70225e-05
|
|
|
WNT9A
|
[NCBI]
|
2.70225e-05
|
|
|
GDF10
|
[NCBI]
|
2.70225e-05
|
|
|
GDF6
|
[NCBI]
|
2.70225e-05
|
|
|
NAB1
|
[NCBI]
|
2.70225e-05
|
|
|
CHI3L1
|
[NCBI]
|
2.70225e-05
|
|
|
XYLT1
|
[NCBI]
|
2.70225e-05
|
|
|
WISP3
|
[NCBI]
|
2.70225e-05
|
|
|
CRTAP
|
[NCBI]
|
2.52208e-05
|
|
|
GSC
|
[NCBI]
|
2.51797e-05
|
|
|
HOXC8
|
[NCBI]
|
2.37887e-05
|
|
|
MGP
|
[NCBI]
|
2.37887e-05
|
|
|
AGC1
|
[NCBI]
|
2.37887e-05
|
|
|
MATN1
|
[NCBI]
|
2.37887e-05
|
|
|
BMPR1B
|
[NCBI]
|
2.37887e-05
|
|
|
VDR
|
[NCBI]
|
2.3358e-05
|
|
|
BHLHB2
|
[NCBI]
|
2.26007e-05
|
|
|
SLC23A2
|
[NCBI]
|
2.26007e-05
|
|
|
ITM2A
|
[NCBI]
|
2.26007e-05
|
|
|
TLN1
|
[NCBI]
|
2.15863e-05
|
|
|
CSPG2
|
[NCBI]
|
2.15863e-05
|
|
|
HOXB5
|
[NCBI]
|
2.15863e-05
|
|
|
RECK
|
[NCBI]
|
2.15863e-05
|
|
|
DVL2
|
[NCBI]
|
2.15863e-05
|
|
|
PABPN1
|
[NCBI]
|
2.15863e-05
|
|
|
HTRA1
|
[NCBI]
|
2.15863e-05
|
|
|
VEGFB
|
[NCBI]
|
2.15863e-05
|
|
|
FRZB
|
[NCBI]
|
2.15863e-05
|
|
|
HGPS
|
[NCBI]
|
2.07104e-05
|
|
|
HSPG2
|
[NCBI]
|
2.07017e-05
|
|
|
TNNI2
|
[NCBI]
|
2.07017e-05
|
|
|
MBTPS1
|
[NCBI]
|
2.07017e-05
|
|
|
FBLN1
|
[NCBI]
|
1.99178e-05
|
|
|
SLC26A2
|
[NCBI]
|
1.99178e-05
|
|
|
CHAT
|
[NCBI]
|
1.97227e-05
|
|
|
MED12
|
[NCBI]
|
1.92144e-05
|
|
|
LYZ
|
[NCBI]
|
1.92144e-05
|
|
|
CBP2
|
[NCBI]
|
1.92144e-05
|
|
|
FMOD
|
[NCBI]
|
1.92144e-05
|
|
|
TRAPPC2
|
[NCBI]
|
1.92144e-05
|
|
|
MSX2
|
[NCBI]
|
1.92144e-05
|
|
|
MBP
|
[NCBI]
|
1.91603e-05
|
|
|
AR
|
[NCBI]
|
1.87181e-05
|
|
|
CHST3
|
[NCBI]
|
1.85768e-05
|
|
|
GRB10
|
[NCBI]
|
1.79939e-05
|
|
|
ECM1
|
[NCBI]
|
1.74573e-05
|
|
|
PGF
|
[NCBI]
|
1.69605e-05
|
|
|
ROR2
|
[NCBI]
|
1.69605e-05
|
|
|
ANXA5
|
[NCBI]
|
1.6498e-05
|
|
|
BMP1
|
[NCBI]
|
1.6498e-05
|
|
|
mucolipidosis ii
|
[NCBI]
|
1.64548e-05
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
1.60862e-05
|
|
|
wilson disease
|
[NCBI]
|
1.60862e-05
|
|
|
TBX5
|
[NCBI]
|
1.60655e-05
|
|
|
SREBF1
|
[NCBI]
|
1.56596e-05
|
|
|
CEACAM5
|
[NCBI]
|
1.55544e-05
|
|
|
BMP4
|
[NCBI]
|
1.54187e-05
|
|
|
F2RL1
|
[NCBI]
|
1.52773e-05
|
|
|
FOXC1
|
[NCBI]
|
1.52773e-05
|
|
|
ALCAM
|
[NCBI]
|
1.4916e-05
|
|
|
PLOD1
|
[NCBI]
|
1.4916e-05
|
|
|
MMP12
|
[NCBI]
|
1.4916e-05
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
1.4916e-05
|
|
|
ITGB1
|
[NCBI]
|
1.39391e-05
|
|
|
CTSK
|
[NCBI]
|
1.36439e-05
|
|
|
ARSB
|
[NCBI]
|
1.33617e-05
|
|
|
HDAC4
|
[NCBI]
|
1.33617e-05
|
|
|
MAS
|
[NCBI]
|
1.31347e-05
|
|
|
NOG
|
[NCBI]
|
1.30915e-05
|
|
|
PTHR1
|
[NCBI]
|
1.28324e-05
|
|
|
FPRL1
|
[NCBI]
|
1.23443e-05
|
|
|
menkes disease
|
[NCBI]
|
1.20048e-05
|
|
|
MMP3
|
[NCBI]
|
1.18917e-05
|
|
|
PRG4
|
[NCBI]
|
1.14702e-05
|
|
|
RUNX2
|
[NCBI]
|
1.12699e-05
|
|
|
IL13
|
[NCBI]
|
1.12699e-05
|
|
|
IGF1
|
[NCBI]
|
1.08882e-05
|
|
|
ADAM17
|
[NCBI]
|
1.07061e-05
|
|
|
EDN1
|
[NCBI]
|
1.03578e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
9.141e-06
|
|
|
COL1A1
|
[NCBI]
|
7.70407e-06
|
|
|
VEGF
|
[NCBI]
|
6.67669e-06
|
|
|
FGF8
|
[NCBI]
|
6.66083e-06
|
|
|
STC1
|
[NCBI]
|
6.49245e-06
|
|
|
PTK2
|
[NCBI]
|
6.35244e-06
|
|
|
AQP1
|
[NCBI]
|
5.72937e-06
|
|
|
SDC2
|
[NCBI]
|
5.41707e-06
|
|
|
HGF
|
[NCBI]
|
5.3025e-06
|
|
|
NSF
|
[NCBI]
|
5.01525e-06
|
|
|
CAT
|
[NCBI]
|
4.96908e-06
|
|
|
GUSB
|
[NCBI]
|
4.83929e-06
|
|
|
VIM
|
[NCBI]
|
4.40371e-06
|
|
|
PTN
|
[NCBI]
|
4.15379e-06
|
|
|
TNFSF11
|
[NCBI]
|
3.74164e-06
|
|
|
G6PD
|
[NCBI]
|
3.20506e-06
|
|
|
FGF2
|
[NCBI]
|
2.64324e-06
|
|
|
PPARA
|
[NCBI]
|
2.25506e-06
|
|
|
FMR1
|
[NCBI]
|
2.21538e-06
|
|
|
LDLR
|
[NCBI]
|
2.18918e-06
|
|
|
GNRH1
|
[NCBI]
|
2.18277e-06
|
|
|
WBS
|
[NCBI]
|
1.76065e-06
|
|
|
JAK2
|
[NCBI]
|
1.67551e-06
|
|
|
PEDF
|
[NCBI]
|
1.42143e-06
|
|
|
ILK
|
[NCBI]
|
1.33217e-06
|
|
|
PGR
|
[NCBI]
|
1.28072e-06
|
|
|
CP
|
[NCBI]
|
1.19832e-06
|
|
|
INS
|
[NCBI]
|
1.01665e-06
|
|
|
GFAP
|
[NCBI]
|
9.80725e-07
|
|
|
CDK2
|
[NCBI]
|
9.20429e-07
|
|
|
DGS
|
[NCBI]
|
5.59753e-07
|
|
|
EGF
|
[NCBI]
|
4.76087e-07
|
|
|
ADA
|
[NCBI]
|
3.27957e-07
|
|
|
TFPI
|
[NCBI]
|
2.63585e-07
|
|
|
GAPDH
|
[NCBI]
|
2.59818e-07
|
|
|
PCNA
|
[NCBI]
|
1.79529e-07
|
|
|
TLR4
|
[NCBI]
|
1.50429e-07
|
|
|
STAT3
|
[NCBI]
|
1.05727e-07
|
|
|
MUC1
|
[NCBI]
|
3.77693e-08
|
|
|
BWS
|
[NCBI]
|
1.13947e-09
|
|