|
OMIM |
Link |
Information gain |
01 |
|
IS1
|
[NCBI]
|
0.00634718
|
|
|
metatropic dwarfism
|
[NCBI]
|
0.00114372
|
|
|
vertebral hypoplasia with lumbar kyphosis
|
[NCBI]
|
0.000897221
|
|
|
MVP
|
[NCBI]
|
0.000628886
|
|
|
DA4
|
[NCBI]
|
0.000598023
|
|
|
TKCR
|
[NCBI]
|
0.000545114
|
|
|
spondylometaphyseal dysplasia, kozlowski type
|
[NCBI]
|
0.000545114
|
|
|
hydroxykynureninuria
|
[NCBI]
|
0.000505903
|
|
|
scheuermann disease
|
[NCBI]
|
0.000505903
|
|
|
spondyloepiphyseal dysplasia tarda, toledo type
|
[NCBI]
|
0.00047476
|
|
|
gordon syndrome
|
[NCBI]
|
0.000390746
|
|
|
DA5
|
[NCBI]
|
0.000390746
|
|
|
kyphomelic dysplasia
|
[NCBI]
|
0.000375513
|
|
|
SEMDJL
|
[NCBI]
|
0.000375513
|
|
|
nevo syndrome
|
[NCBI]
|
0.000197084
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
0.000175721
|
|
|
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
|
[NCBI]
|
0.000174168
|
|
|
proteus syndrome
|
[NCBI]
|
0.000160088
|
|
|
COFS1
|
[NCBI]
|
0.000144416
|
|
|
FLNB
|
[NCBI]
|
0.000143697
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
0.000140371
|
|
|
weaver syndrome
|
[NCBI]
|
0.000130616
|
|
|
cervical hypertrichosis with underlying kyphoscoliosis
|
[NCBI]
|
0.000120847
|
|
|
hydrocephalus, tall stature, joint laxity, and kyphoscoliosis
|
[NCBI]
|
0.000120847
|
|
|
metatropic dysplasia, nonlethal dominant
|
[NCBI]
|
0.000120847
|
|
|
facial abnormalities, kyphoscoliosis, and mental retardation
|
[NCBI]
|
0.000120847
|
|
|
spinal dysplasia, anhalt type
|
[NCBI]
|
0.000120847
|
|
|
SCDO1
|
[NCBI]
|
0.000119987
|
|
|
DA2A
|
[NCBI]
|
0.000118039
|
|
|
PLOD1
|
[NCBI]
|
0.000117792
|
|
|
SEDC
|
[NCBI]
|
0.000116203
|
|
|
arthrogryposis, distal, type 2e
|
[NCBI]
|
9.83832e-05
|
|
|
kniest-like dysplasia with pursed lips and ectopia lentis
|
[NCBI]
|
9.83832e-05
|
|
|
posterior column ataxia
|
[NCBI]
|
9.83832e-05
|
|
|
CLS
|
[NCBI]
|
9.78018e-05
|
|
|
RA
|
[NCBI]
|
9.16295e-05
|
|
|
retinopathy, pigmentary, and mental retardation
|
[NCBI]
|
8.99103e-05
|
|
|
mental retardation, x-linked, snyder-robinson type
|
[NCBI]
|
8.99103e-05
|
|
|
arthrogryposis and ectodermal dysplasia
|
[NCBI]
|
8.99103e-05
|
|
|
ACH
|
[NCBI]
|
7.79313e-05
|
|
|
native american myopathy
|
[NCBI]
|
7.70698e-05
|
|
|
pseudodiastrophic dysplasia
|
[NCBI]
|
7.43647e-05
|
|
|
KY
|
[NCBI]
|
7.32984e-05
|
|
|
FSHMD1A
|
[NCBI]
|
7.23626e-05
|
|
|
FRG1
|
[NCBI]
|
6.99214e-05
|
|
|
trismus-pseudocamptodactyly syndrome
|
[NCBI]
|
6.82323e-05
|
|
|
DA1
|
[NCBI]
|
6.66178e-05
|
|
|
DA2B
|
[NCBI]
|
6.25693e-05
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
6.23221e-05
|
|
|
kniest dysplasia
|
[NCBI]
|
6.14197e-05
|
|
|
HSPG2
|
[NCBI]
|
6.10772e-05
|
|
|
LRS1
|
[NCBI]
|
6.03475e-05
|
|
|
chondrodysplasia punctata, autosomal dominant
|
[NCBI]
|
6.03475e-05
|
|
|
tight skin contracture syndrome, lethal
|
[NCBI]
|
5.9343e-05
|
|
|
myeloma, multiple
|
[NCBI]
|
5.83982e-05
|
|
|
TTDP
|
[NCBI]
|
5.66621e-05
|
|
|
MFS
|
[NCBI]
|
5.52013e-05
|
|
|
UCMD
|
[NCBI]
|
5.36741e-05
|
|
|
OKS
|
[NCBI]
|
5.00433e-05
|
|
|
ERCC2
|
[NCBI]
|
4.97847e-05
|
|
|
leopard syndrome 1
|
[NCBI]
|
4.95121e-05
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
4.8501e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
4.8019e-05
|
|
|
XPA
|
[NCBI]
|
4.74606e-05
|
|
|
RCDP1
|
[NCBI]
|
4.66565e-05
|
|
|
POLG
|
[NCBI]
|
4.60821e-05
|
|
|
FDH
|
[NCBI]
|
4.35181e-05
|
|
|
SJS1
|
[NCBI]
|
4.31671e-05
|
|
|
CRMO
|
[NCBI]
|
3.76869e-05
|
|
|
NS1
|
[NCBI]
|
3.12957e-05
|
|
|
NF1
|
[NCBI]
|
2.51172e-05
|
|
|
CVID
|
[NCBI]
|
1.32106e-05
|
|
|
CF
|
[NCBI]
|
1.28447e-06
|
|