|
OMIM |
Link |
Information gain |
01 |
|
OSCS
|
[NCBI]
|
0.00386983
|
|
|
osteolysis, hereditary, of carpal bones with nephropathy
|
[NCBI]
|
0.00386983
|
|
|
PTH
|
[NCBI]
|
0.00155076
|
|
|
borrone dermatocardioskeletal syndrome
|
[NCBI]
|
0.000882469
|
|
|
flynn-aird syndrome
|
[NCBI]
|
0.000882469
|
|
|
singleton-merten syndrome
|
[NCBI]
|
0.000665076
|
|
|
SEMDIT
|
[NCBI]
|
0.000583375
|
|
|
pyle disease
|
[NCBI]
|
0.000530517
|
|
|
dermochondrocorneal dystrophy
|
[NCBI]
|
0.000491357
|
|
|
bruck syndrome 1
|
[NCBI]
|
0.000491357
|
|
|
OSCS
|
[NCBI]
|
0.000460266
|
|
|
CMDR
|
[NCBI]
|
0.000434506
|
|
|
syringomyelia, isolated
|
[NCBI]
|
0.000434506
|
|
|
HBD
|
[NCBI]
|
0.000434506
|
|
|
larsen syndrome, recessive
|
[NCBI]
|
0.000434506
|
|
|
spondyloepiphyseal dysplasia tarda, autosomal dominant
|
[NCBI]
|
0.000434506
|
|
|
kenny-caffey syndrome, type 2
|
[NCBI]
|
0.000361277
|
|
|
kyphomelic dysplasia
|
[NCBI]
|
0.000361277
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
0.000360059
|
|
|
microcephalic osteodysplastic primordial dwarfism, type ii
|
[NCBI]
|
0.000347532
|
|
|
TNFRSF11B
|
[NCBI]
|
0.000335886
|
|
|
deafness, congenital, and onychodystrophy, recessive form
|
[NCBI]
|
0.000323443
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.000284896
|
|
|
hypophosphatasia, infantile
|
[NCBI]
|
0.000273511
|
|
|
caffey disease
|
[NCBI]
|
0.000267201
|
|
|
EDM1
|
[NCBI]
|
0.000253738
|
|
|
MCDS
|
[NCBI]
|
0.000249818
|
|
|
PLOSL
|
[NCBI]
|
0.000246125
|
|
|
CMDD
|
[NCBI]
|
0.000242635
|
|
|
BMND1
|
[NCBI]
|
0.000238439
|
|
|
hyperostosis corticalis generalisata
|
[NCBI]
|
0.000196646
|
|
|
ATD1
|
[NCBI]
|
0.000183896
|
|
|
pycnodysostosis
|
[NCBI]
|
0.000174746
|
|
|
BGLAP
|
[NCBI]
|
0.00017369
|
|
|
camurati-engelmann disease
|
[NCBI]
|
0.000148481
|
|
|
proteus syndrome
|
[NCBI]
|
0.000147715
|
|
|
SLE
|
[NCBI]
|
0.000144129
|
|
|
GDD
|
[NCBI]
|
0.000131001
|
|
|
hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
|
[NCBI]
|
0.000122869
|
|
|
HHS
|
[NCBI]
|
0.000119471
|
|
|
TMEM16E
|
[NCBI]
|
0.000117708
|
|
|
paget disease, juvenile
|
[NCBI]
|
0.000106445
|
|
|
enchondromatosis, multiple
|
[NCBI]
|
0.00010438
|
|
|
FMD
|
[NCBI]
|
0.000102442
|
|
|
osebold skeletal dysplasia/osteolysis syndrome
|
[NCBI]
|
0.000101825
|
|
|
brittle bone disorder
|
[NCBI]
|
0.000101825
|
|
|
neurologic disease, infantile multisystem, with osseous fragility
|
[NCBI]
|
0.000101825
|
|
|
hypouricemia, hypercalcinuria, and decreased bone density
|
[NCBI]
|
0.000101825
|
|
|
cortical defects, wormian bones, and dentinogenesis imperfecta
|
[NCBI]
|
0.000101825
|
|
|
cervical rib
|
[NCBI]
|
0.000101825
|
|
|
osteopathia striata with pigmentary dermopathy including white forelock
|
[NCBI]
|
0.000101825
|
|
|
metaphyseal modeling abnormality, skin lesions, and spastic paraplegia
|
[NCBI]
|
0.000101825
|
|
|
hypophosphatasia, adult type
|
[NCBI]
|
0.000100617
|
|
|
SOST
|
[NCBI]
|
9.88924e-05
|
|
|
SDS
|
[NCBI]
|
9.46344e-05
|
|
|
MNS
|
[NCBI]
|
9.42258e-05
|
|
|
MADA
|
[NCBI]
|
9.01691e-05
|
|
|
plasmin inhibitor deficiency
|
[NCBI]
|
8.49256e-05
|
|
|
CF
|
[NCBI]
|
8.18839e-05
|
|
|
bruck syndrome 2
|
[NCBI]
|
7.93822e-05
|
|
|
acroosteolysis
|
[NCBI]
|
7.93822e-05
|
|
|
van buchem disease, type 2
|
[NCBI]
|
7.93822e-05
|
|
|
metaphyseal chondrodysplasia, pena type
|
[NCBI]
|
7.93822e-05
|
|
|
puerto rican infant hypotonia syndrome
|
[NCBI]
|
7.93822e-05
|
|
|
RCDP1
|
[NCBI]
|
7.86734e-05
|
|
|
SEDC
|
[NCBI]
|
7.86734e-05
|
|
|
DKC
|
[NCBI]
|
7.6168e-05
|
|
|
FGFR3
|
[NCBI]
|
7.55439e-05
|
|
|
SJS1
|
[NCBI]
|
7.17082e-05
|
|
|
ASPED
|
[NCBI]
|
7.09303e-05
|
|
|
peripheral dysostosis
|
[NCBI]
|
7.09303e-05
|
|
|
humeroradial synostosis
|
[NCBI]
|
7.09303e-05
|
|
|
anauxetic dysplasia
|
[NCBI]
|
7.09303e-05
|
|
|
craniotelencephalic dysplasia
|
[NCBI]
|
7.09303e-05
|
|
|
BMP2
|
[NCBI]
|
6.76355e-05
|
|
|
humerospinal dysostosis
|
[NCBI]
|
6.54522e-05
|
|
|
spondylometaphyseal dysplasia, algerian type
|
[NCBI]
|
6.54522e-05
|
|
|
langerhans cell histiocytosis
|
[NCBI]
|
6.54522e-05
|
|
|
osteolysis, hereditary multicentric
|
[NCBI]
|
6.13865e-05
|
|
|
OPTA1
|
[NCBI]
|
6.13865e-05
|
|
|
SPS
|
[NCBI]
|
5.81527e-05
|
|
|
pelvis-shoulder dysplasia
|
[NCBI]
|
5.81527e-05
|
|
|
CHH
|
[NCBI]
|
5.77046e-05
|
|
|
NN
|
[NCBI]
|
5.54686e-05
|
|
|
achondroplasia, so-called, and severe combined immunodeficiency
|
[NCBI]
|
5.54686e-05
|
|
|
BMP1
|
[NCBI]
|
5.45363e-05
|
|
|
ELA1
|
[NCBI]
|
5.45363e-05
|
|
|
hypertension-related calcium-regulated gene
|
[NCBI]
|
5.45363e-05
|
|
|
hyperpipecolatemia
|
[NCBI]
|
5.31751e-05
|
|
|
IBMPFD
|
[NCBI]
|
5.31751e-05
|
|
|
CCD
|
[NCBI]
|
5.26445e-05
|
|
|
metaphyseal chondrodysplasia, jansen type
|
[NCBI]
|
5.11737e-05
|
|
|
OGD
|
[NCBI]
|
5.11737e-05
|
|
|
B2M
|
[NCBI]
|
5.11122e-05
|
|
|
BOCD
|
[NCBI]
|
4.93991e-05
|
|
|
avascular necrosis of femoral head, primary
|
[NCBI]
|
4.93991e-05
|
|
|
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
[NCBI]
|
4.93991e-05
|
|
|
dentinogenesis imperfecta, shields type iii
|
[NCBI]
|
4.93991e-05
|
|
|
BMP3
|
[NCBI]
|
4.93451e-05
|
|
|
noonan-like/multiple giant cell lesion syndrome
|
[NCBI]
|
4.78056e-05
|
|
|
sturge-weber syndrome
|
[NCBI]
|
4.78056e-05
|
|
|
AHO
|
[NCBI]
|
4.77691e-05
|
|
|
fibromatosis, juvenile hyaline
|
[NCBI]
|
4.5038e-05
|
|
|
NSHPT
|
[NCBI]
|
4.5038e-05
|
|
|
SYNS1
|
[NCBI]
|
4.5038e-05
|
|
|
RA
|
[NCBI]
|
4.41975e-05
|
|
|
currarino syndrome
|
[NCBI]
|
4.382e-05
|
|
|
langer mesomelic dysplasia
|
[NCBI]
|
4.382e-05
|
|
|
CDAN1
|
[NCBI]
|
4.34761e-05
|
|
|
HLXB9
|
[NCBI]
|
4.34761e-05
|
|
|
OPD1
|
[NCBI]
|
4.26914e-05
|
|
|
ZS
|
[NCBI]
|
4.24057e-05
|
|
|
GUSB
|
[NCBI]
|
4.18165e-05
|
|
|
LRS1
|
[NCBI]
|
4.16402e-05
|
|
|
marshall syndrome
|
[NCBI]
|
4.16402e-05
|
|
|
vitamin d-dependent rickets, type i
|
[NCBI]
|
4.16402e-05
|
|
|
OPPG
|
[NCBI]
|
4.06566e-05
|
|
|
afibrinogenemia, congenital
|
[NCBI]
|
4.06566e-05
|
|
|
TREM2
|
[NCBI]
|
3.98305e-05
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
3.97328e-05
|
|
|
seckel syndrome 1
|
[NCBI]
|
3.97328e-05
|
|
|
anemia, dyserythropoietic congenital, type i
|
[NCBI]
|
3.97328e-05
|
|
|
buschke-ollendorff syndrome
|
[NCBI]
|
3.80387e-05
|
|
|
UMS
|
[NCBI]
|
3.80387e-05
|
|
|
HEPOD
|
[NCBI]
|
3.72581e-05
|
|
|
PDP
|
[NCBI]
|
3.72581e-05
|
|
|
diabetes insipidus, neurohypophyseal type
|
[NCBI]
|
3.65161e-05
|
|
|
mucolipidosis iiia
|
[NCBI]
|
3.65161e-05
|
|
|
osteoporosis
|
[NCBI]
|
3.65161e-05
|
|
|
ANKH
|
[NCBI]
|
3.60838e-05
|
|
|
SOST
|
[NCBI]
|
3.60838e-05
|
|
|
RMRP
|
[NCBI]
|
3.60838e-05
|
|
|
GACI
|
[NCBI]
|
3.58093e-05
|
|
|
TRPS1
|
[NCBI]
|
3.58093e-05
|
|
|
ACP5
|
[NCBI]
|
3.43832e-05
|
|
|
PHA
|
[NCBI]
|
3.38708e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
3.38708e-05
|
|
|
refsum disease, infantile form
|
[NCBI]
|
3.32775e-05
|
|
|
CYP27B1
|
[NCBI]
|
3.26294e-05
|
|
|
HFTC
|
[NCBI]
|
3.11194e-05
|
|
|
bartter syndrome, type 3
|
[NCBI]
|
3.06267e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
2.96893e-05
|
|
|
LBR
|
[NCBI]
|
2.95476e-05
|
|
|
HCH
|
[NCBI]
|
2.92427e-05
|
|
|
TNFRSF6B
|
[NCBI]
|
2.90345e-05
|
|
|
LRP5
|
[NCBI]
|
2.85475e-05
|
|
|
PTHLH
|
[NCBI]
|
2.76199e-05
|
|
|
OCA2
|
[NCBI]
|
2.75854e-05
|
|
|
STL1
|
[NCBI]
|
2.75854e-05
|
|
|
TRPS2
|
[NCBI]
|
2.61041e-05
|
|
|
COH1
|
[NCBI]
|
2.61041e-05
|
|
|
campomelic dysplasia
|
[NCBI]
|
2.61041e-05
|
|
|
SPARC
|
[NCBI]
|
2.56988e-05
|
|
|
COL10A1
|
[NCBI]
|
2.56988e-05
|
|
|
FDH
|
[NCBI]
|
2.54192e-05
|
|
|
LWD
|
[NCBI]
|
2.4767e-05
|
|
|
BMP4
|
[NCBI]
|
2.43899e-05
|
|
|
GC
|
[NCBI]
|
2.37985e-05
|
|
|
hypophosphatemic rickets, x-linked dominant
|
[NCBI]
|
2.35504e-05
|
|
|
CLN3
|
[NCBI]
|
2.32628e-05
|
|
|
DES
|
[NCBI]
|
2.32426e-05
|
|
|
KIT
|
[NCBI]
|
2.27183e-05
|
|
|
CTNS
|
[NCBI]
|
2.27057e-05
|
|
|
VCP
|
[NCBI]
|
2.22223e-05
|
|
|
MHS1
|
[NCBI]
|
2.09244e-05
|
|
|
FGF23
|
[NCBI]
|
2.00817e-05
|
|
|
CRMO
|
[NCBI]
|
2.00077e-05
|
|
|
CLS
|
[NCBI]
|
2.00077e-05
|
|
|
MTS
|
[NCBI]
|
1.95732e-05
|
|
|
TGFB1
|
[NCBI]
|
1.93503e-05
|
|
|
ELN
|
[NCBI]
|
1.83553e-05
|
|
|
HGPS
|
[NCBI]
|
1.77882e-05
|
|
|
LPI
|
[NCBI]
|
1.76052e-05
|
|
|
NR1I2
|
[NCBI]
|
1.73216e-05
|
|
|
TD1
|
[NCBI]
|
1.72474e-05
|
|
|
WRN
|
[NCBI]
|
1.72474e-05
|
|
|
gaucher disease, type i
|
[NCBI]
|
1.72474e-05
|
|
|
VDR
|
[NCBI]
|
1.72298e-05
|
|
|
IDUA
|
[NCBI]
|
1.69138e-05
|
|
|
COL2A1
|
[NCBI]
|
1.60319e-05
|
|
|
menkes disease
|
[NCBI]
|
1.59165e-05
|
|
|
TNF
|
[NCBI]
|
1.57416e-05
|
|
|
IGFALS
|
[NCBI]
|
1.56803e-05
|
|
|
LMNA
|
[NCBI]
|
1.41164e-05
|
|
|
COL1A1
|
[NCBI]
|
1.36553e-05
|
|
|
homocystinuria
|
[NCBI]
|
1.29689e-05
|
|
|
wilson disease
|
[NCBI]
|
1.26741e-05
|
|
|
PKD1
|
[NCBI]
|
1.23376e-05
|
|
|
CASR
|
[NCBI]
|
1.18959e-05
|
|
|
fabry disease
|
[NCBI]
|
1.17835e-05
|
|
|
ACH
|
[NCBI]
|
1.15728e-05
|
|
|
DBA
|
[NCBI]
|
1.14691e-05
|
|
|
SPINK1
|
[NCBI]
|
9.79306e-06
|
|
|
SPP1
|
[NCBI]
|
9.21323e-06
|
|
|
BCNS
|
[NCBI]
|
7.46202e-06
|
|
|
TNFSF10
|
[NCBI]
|
6.92112e-06
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
4.23674e-06
|
|
|
NF1
|
[NCBI]
|
4.20012e-06
|
|
|
MFS
|
[NCBI]
|
3.61812e-06
|
|
|
HGF
|
[NCBI]
|
1.26327e-06
|
|
|
PCNA
|
[NCBI]
|
1.12665e-06
|
|
|
TTR
|
[NCBI]
|
1.07866e-06
|
|
|
CAT
|
[NCBI]
|
1.69741e-07
|
|