|
OMIM |
Link |
Information gain |
01 |
|
IS1
|
[NCBI]
|
0.13252
|
|
|
SEMDJL
|
[NCBI]
|
0.00118921
|
|
|
HGPPS
|
[NCBI]
|
0.000752337
|
|
|
IS2
|
[NCBI]
|
0.000572546
|
|
|
leg, absence deformity of, with congenital cataract
|
[NCBI]
|
0.000572546
|
|
|
metatropic dwarfism
|
[NCBI]
|
0.000508047
|
|
|
RSMD1
|
[NCBI]
|
0.000469005
|
|
|
chiari malformation type i
|
[NCBI]
|
0.000352813
|
|
|
hyperimmunoglobulin e-recurrent infection syndrome, autosomal recessive
|
[NCBI]
|
0.000280654
|
|
|
DA4
|
[NCBI]
|
0.000280654
|
|
|
sprengel deformity
|
[NCBI]
|
0.000280654
|
|
|
spondylocarpotarsal synostosis syndrome
|
[NCBI]
|
0.000244198
|
|
|
TKCR
|
[NCBI]
|
0.000231398
|
|
|
costovertebral segmentation anomalies
|
[NCBI]
|
0.000231398
|
|
|
IS3
|
[NCBI]
|
0.000214267
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
0.000204214
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
0.000200185
|
|
|
scheuermann disease
|
[NCBI]
|
0.000195841
|
|
|
radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
|
[NCBI]
|
0.000183334
|
|
|
spondyloepiphyseal dysplasia tarda, toledo type
|
[NCBI]
|
0.000168352
|
|
|
proteus syndrome
|
[NCBI]
|
0.000147737
|
|
|
pseudodiastrophic dysplasia
|
[NCBI]
|
0.000146488
|
|
|
SPG23
|
[NCBI]
|
0.000146195
|
|
|
CMDR
|
[NCBI]
|
0.000146195
|
|
|
syringomyelia, isolated
|
[NCBI]
|
0.000146195
|
|
|
larsen syndrome, recessive
|
[NCBI]
|
0.000146195
|
|
|
spondyloepiphyseal dysplasia tarda, autosomal dominant
|
[NCBI]
|
0.000146195
|
|
|
ROBO3
|
[NCBI]
|
0.000145531
|
|
|
KY
|
[NCBI]
|
0.000145531
|
|
|
PWS
|
[NCBI]
|
0.000133915
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
0.000119805
|
|
|
PAX1
|
[NCBI]
|
0.000117137
|
|
|
CCD
|
[NCBI]
|
0.000112979
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
0.000112828
|
|
|
spondyloepimetaphyseal dysplasia, sponastrime type
|
[NCBI]
|
0.000112294
|
|
|
GO
|
[NCBI]
|
0.000112294
|
|
|
acrodysostosis
|
[NCBI]
|
0.000112294
|
|
|
DLL3
|
[NCBI]
|
0.000109056
|
|
|
hydrocephalus, tall stature, joint laxity, and kyphoscoliosis
|
[NCBI]
|
0.000107066
|
|
|
metatropic dysplasia, nonlethal dominant
|
[NCBI]
|
0.000107066
|
|
|
spinal dysplasia, anhalt type
|
[NCBI]
|
0.000107066
|
|
|
spondylocamptodactyly
|
[NCBI]
|
0.000107066
|
|
|
brachydactyly-distal symphalangism syndrome
|
[NCBI]
|
0.000107066
|
|
|
dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation
|
[NCBI]
|
0.000107066
|
|
|
cervical hypertrichosis with underlying kyphoscoliosis
|
[NCBI]
|
0.000107066
|
|
|
metaphyseal chondrodysplasia, kaitila type
|
[NCBI]
|
0.000107066
|
|
|
ehlers-danlos syndrome, type vi
|
[NCBI]
|
0.000101791
|
|
|
diastrophic dysplasia
|
[NCBI]
|
0.000100488
|
|
|
CF
|
[NCBI]
|
9.31996e-05
|
|
|
SEDC
|
[NCBI]
|
8.89004e-05
|
|
|
MVP
|
[NCBI]
|
8.83714e-05
|
|
|
neuropathy, hereditary sensory, atypical
|
[NCBI]
|
8.46155e-05
|
|
|
XMRE
|
[NCBI]
|
8.46155e-05
|
|
|
brachyrachia
|
[NCBI]
|
8.46155e-05
|
|
|
posterior column ataxia
|
[NCBI]
|
8.46155e-05
|
|
|
pterygium syndrome, multiple, autosomal dominant
|
[NCBI]
|
8.46155e-05
|
|
|
hydrocephalus, skeletal anomalies, and mental disturbance
|
[NCBI]
|
8.46155e-05
|
|
|
camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
|
[NCBI]
|
8.46155e-05
|
|
|
SNTG1
|
[NCBI]
|
8.21209e-05
|
|
|
MTNR1B
|
[NCBI]
|
8.21209e-05
|
|
|
BCNS
|
[NCBI]
|
8.03979e-05
|
|
|
EDMD
|
[NCBI]
|
7.79313e-05
|
|
|
DBQD
|
[NCBI]
|
7.72425e-05
|
|
|
microcephalic osteodysplastic primordial dwarfism, type ii
|
[NCBI]
|
7.72425e-05
|
|
|
ZLS
|
[NCBI]
|
7.72425e-05
|
|
|
IH
|
[NCBI]
|
7.72425e-05
|
|
|
mental retardation, x-linked, snyder-robinson type
|
[NCBI]
|
7.61552e-05
|
|
|
arthrogryposis and ectodermal dysplasia
|
[NCBI]
|
7.61552e-05
|
|
|
CLS
|
[NCBI]
|
7.08512e-05
|
|
|
ZNF261
|
[NCBI]
|
6.83427e-05
|
|
|
spondyloenchondrodysplasia
|
[NCBI]
|
6.8298e-05
|
|
|
angioid streaks
|
[NCBI]
|
6.65946e-05
|
|
|
larynx, congenital partial atresia of
|
[NCBI]
|
6.65946e-05
|
|
|
ATP6AP2
|
[NCBI]
|
6.31438e-05
|
|
|
osteolysis, hereditary, of carpal bones with nephropathy
|
[NCBI]
|
6.0365e-05
|
|
|
EGR3
|
[NCBI]
|
5.97685e-05
|
|
|
rokitansky-kuster-hauser syndrome
|
[NCBI]
|
5.8358e-05
|
|
|
CZP1
|
[NCBI]
|
5.63482e-05
|
|
|
whistling face syndrome, recessive form
|
[NCBI]
|
5.63482e-05
|
|
|
SMS
|
[NCBI]
|
5.56895e-05
|
|
|
CHD7
|
[NCBI]
|
5.52602e-05
|
|
|
acyl-coa dehydrogenase, short-chain, deficiency of
|
[NCBI]
|
5.45652e-05
|
|
|
FLNB
|
[NCBI]
|
5.35982e-05
|
|
|
NPPB
|
[NCBI]
|
5.35982e-05
|
|
|
d-2-@hydroxyglutaric aciduria
|
[NCBI]
|
5.29633e-05
|
|
|
PAPSS2
|
[NCBI]
|
5.21757e-05
|
|
|
HSPG2
|
[NCBI]
|
5.09324e-05
|
|
|
DA2B
|
[NCBI]
|
4.89526e-05
|
|
|
ZNF198
|
[NCBI]
|
4.79325e-05
|
|
|
PFM
|
[NCBI]
|
4.78155e-05
|
|
|
stuve-wiedemann syndrome
|
[NCBI]
|
4.78155e-05
|
|
|
kniest dysplasia
|
[NCBI]
|
4.78155e-05
|
|
|
SRS
|
[NCBI]
|
4.74938e-05
|
|
|
COL5A1
|
[NCBI]
|
4.71057e-05
|
|
|
LRS1
|
[NCBI]
|
4.67559e-05
|
|
|
DMC
|
[NCBI]
|
4.5764e-05
|
|
|
neuropathy, congenital hypomyelinating
|
[NCBI]
|
4.5764e-05
|
|
|
DAG1
|
[NCBI]
|
4.56347e-05
|
|
|
myeloma, multiple
|
[NCBI]
|
4.48317e-05
|
|
|
FMD
|
[NCBI]
|
4.48317e-05
|
|
|
sacral defect with anterior meningocele
|
[NCBI]
|
4.48317e-05
|
|
|
hypophosphatasia, adult type
|
[NCBI]
|
4.39526e-05
|
|
|
GJA8
|
[NCBI]
|
4.32223e-05
|
|
|
EDMD2
|
[NCBI]
|
4.15815e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
4.15815e-05
|
|
|
PLOD1
|
[NCBI]
|
4.12862e-05
|
|
|
weaver syndrome
|
[NCBI]
|
4.01831e-05
|
|
|
UCMD
|
[NCBI]
|
4.01831e-05
|
|
|
hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant
|
[NCBI]
|
3.83009e-05
|
|
|
OKS
|
[NCBI]
|
3.66278e-05
|
|
|
SHOX
|
[NCBI]
|
3.65119e-05
|
|
|
marden-walker syndrome
|
[NCBI]
|
3.62463e-05
|
|
|
leopard syndrome 1
|
[NCBI]
|
3.61093e-05
|
|
|
MKKS
|
[NCBI]
|
3.61093e-05
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
3.51233e-05
|
|
|
SCDO1
|
[NCBI]
|
3.51233e-05
|
|
|
HMI
|
[NCBI]
|
3.43437e-05
|
|
|
DA2A
|
[NCBI]
|
3.4199e-05
|
|
|
TBS
|
[NCBI]
|
3.33291e-05
|
|
|
RCDP1
|
[NCBI]
|
3.33291e-05
|
|
|
hypophosphatasia, infantile
|
[NCBI]
|
3.33291e-05
|
|
|
MM
|
[NCBI]
|
3.25081e-05
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
3.17308e-05
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
3.16826e-05
|
|
|
AVP
|
[NCBI]
|
3.16784e-05
|
|
|
MFS
|
[NCBI]
|
3.06074e-05
|
|
|
SJS1
|
[NCBI]
|
2.99531e-05
|
|
|
LWD
|
[NCBI]
|
2.96225e-05
|
|
|
NEM3
|
[NCBI]
|
2.96225e-05
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
2.89836e-05
|
|
|
CES
|
[NCBI]
|
2.80763e-05
|
|
|
MPZ
|
[NCBI]
|
2.78391e-05
|
|
|
DYT1
|
[NCBI]
|
2.77864e-05
|
|
|
SCA7
|
[NCBI]
|
2.66837e-05
|
|
|
MHS1
|
[NCBI]
|
2.56623e-05
|
|
|
CRMO
|
[NCBI]
|
2.4712e-05
|
|
|
CMT1A
|
[NCBI]
|
2.38242e-05
|
|
|
NPS
|
[NCBI]
|
2.38242e-05
|
|
|
AS
|
[NCBI]
|
2.35314e-05
|
|
|
FOP
|
[NCBI]
|
2.20201e-05
|
|
|
PMP22
|
[NCBI]
|
2.16975e-05
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
2.07715e-05
|
|
|
glycogen storage disease ii
|
[NCBI]
|
1.96346e-05
|
|
|
OD
|
[NCBI]
|
1.76071e-05
|
|
|
FRDA
|
[NCBI]
|
1.62663e-05
|
|
|
CD
|
[NCBI]
|
1.62663e-05
|
|
|
CDLS1
|
[NCBI]
|
1.62663e-05
|
|
|
NF1
|
[NCBI]
|
1.54943e-05
|
|
|
PMD
|
[NCBI]
|
1.45306e-05
|
|
|
ACP5
|
[NCBI]
|
1.39418e-05
|
|
|
WBS
|
[NCBI]
|
9.42442e-06
|
|
|
VDR
|
[NCBI]
|
7.89725e-06
|
|
|
NPPA
|
[NCBI]
|
7.0761e-06
|
|
|
EPO
|
[NCBI]
|
1.17994e-06
|
|
|
TS
|
[NCBI]
|
7.80477e-07
|
|
|
EGF
|
[NCBI]
|
6.66967e-08
|
|