|
OMIM |
Link |
Information gain |
01 |
|
bruck syndrome 1
|
[NCBI]
|
0.00312797
|
|
|
lethal congenital contracture syndrome 1
|
[NCBI]
|
0.00292144
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.00274769
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.00206204
|
|
|
wieacker syndrome
|
[NCBI]
|
0.00145153
|
|
|
aase-smith syndrome i
|
[NCBI]
|
0.00145153
|
|
|
camptodactyly
|
[NCBI]
|
0.00131643
|
|
|
VDEGS
|
[NCBI]
|
0.00122386
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
0.00104322
|
|
|
DA5
|
[NCBI]
|
0.000969094
|
|
|
geleophysic dysplasia
|
[NCBI]
|
0.000969094
|
|
|
CACP
|
[NCBI]
|
0.000938352
|
|
|
MCS
|
[NCBI]
|
0.000873351
|
|
|
amyotrophic lateral sclerosis, juvenile, with dementia
|
[NCBI]
|
0.000873351
|
|
|
EDMD
|
[NCBI]
|
0.000681133
|
|
|
fingerprints, absence of
|
[NCBI]
|
0.000655992
|
|
|
fibromatosis, juvenile hyaline
|
[NCBI]
|
0.000404332
|
|
|
stiff skin syndrome
|
[NCBI]
|
0.000367651
|
|
|
bethlem myopathy
|
[NCBI]
|
0.000269941
|
|
|
EDMD2
|
[NCBI]
|
0.000266623
|
|
|
RA
|
[NCBI]
|
0.000240747
|
|
|
NLS
|
[NCBI]
|
0.000221979
|
|
|
camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
|
[NCBI]
|
0.000217385
|
|
|
tight skin contracture syndrome, lethal
|
[NCBI]
|
0.000198154
|
|
|
SLE
|
[NCBI]
|
0.000168512
|
|
|
RSMD1
|
[NCBI]
|
0.000160964
|
|
|
DA2A
|
[NCBI]
|
0.000160964
|
|
|
IBM3
|
[NCBI]
|
0.000144576
|
|
|
winchester syndrome
|
[NCBI]
|
0.000140241
|
|
|
AMC
|
[NCBI]
|
0.000127545
|
|
|
COL6A3
|
[NCBI]
|
0.000120022
|
|
|
masa syndrome
|
[NCBI]
|
0.000110698
|
|
|
arthropathy, erosive
|
[NCBI]
|
0.000108618
|
|
|
bowen syndrome of multiple malformations
|
[NCBI]
|
0.000108618
|
|
|
arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
|
[NCBI]
|
0.000108618
|
|
|
cyprus facial neuromusculoskeletal syndrome
|
[NCBI]
|
0.000108618
|
|
|
aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy
|
[NCBI]
|
0.000108618
|
|
|
wolff mental retardation syndrome
|
[NCBI]
|
0.000108618
|
|
|
MFS
|
[NCBI]
|
0.000107191
|
|
|
ABS
|
[NCBI]
|
9.88219e-05
|
|
|
LCCS2
|
[NCBI]
|
8.61652e-05
|
|
|
prader-willi habitus, osteopenia, and camptodactyly
|
[NCBI]
|
8.61652e-05
|
|
|
bruck syndrome 2
|
[NCBI]
|
8.61652e-05
|
|
|
pelvic hypoplasia with lower-limb arthrogryposis
|
[NCBI]
|
8.61652e-05
|
|
|
arthrogryposis, distal, with mental retardation and characteristic facies
|
[NCBI]
|
8.61652e-05
|
|
|
stratton-parker syndrome
|
[NCBI]
|
8.61652e-05
|
|
|
mental retardation syndrome, mietens-weber type
|
[NCBI]
|
8.61652e-05
|
|
|
mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism
|
[NCBI]
|
8.61652e-05
|
|
|
holoprosencephaly with fetal akinesia/hypokinesia sequence
|
[NCBI]
|
8.61652e-05
|
|
|
crisponi syndrome
|
[NCBI]
|
7.77029e-05
|
|
|
muscular dystrophy, hemizygous lethal type
|
[NCBI]
|
7.77029e-05
|
|
|
arteritis, familial granulomatous, with juvenile polyarthritis
|
[NCBI]
|
7.77029e-05
|
|
|
MHS1
|
[NCBI]
|
7.58557e-05
|
|
|
fibrosclerosis, multifocal
|
[NCBI]
|
7.22145e-05
|
|
|
nevo syndrome
|
[NCBI]
|
7.22145e-05
|
|
|
HANAC
|
[NCBI]
|
7.22145e-05
|
|
|
LGMD2K
|
[NCBI]
|
7.22145e-05
|
|
|
GNPTG
|
[NCBI]
|
6.9765e-05
|
|
|
hyalinosis, infantile systemic
|
[NCBI]
|
6.48942e-05
|
|
|
TNNT3
|
[NCBI]
|
6.45657e-05
|
|
|
mucolipidosis iii, complementation group c
|
[NCBI]
|
5.98957e-05
|
|
|
minicore myopathy with external ophthalmoplegia
|
[NCBI]
|
5.60989e-05
|
|
|
brody myopathy
|
[NCBI]
|
5.60989e-05
|
|
|
ATP2A1
|
[NCBI]
|
5.50187e-05
|
|
|
CNTFR
|
[NCBI]
|
5.50187e-05
|
|
|
CRLF1
|
[NCBI]
|
5.50187e-05
|
|
|
ZS
|
[NCBI]
|
5.48158e-05
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
5.3596e-05
|
|
|
HSD17B4
|
[NCBI]
|
5.23523e-05
|
|
|
PRG4
|
[NCBI]
|
5.12477e-05
|
|
|
DA2B
|
[NCBI]
|
5.04782e-05
|
|
|
COL6A2
|
[NCBI]
|
4.93514e-05
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
4.93392e-05
|
|
|
d-bifunctional protein deficiency
|
[NCBI]
|
4.93392e-05
|
|
|
POMT1
|
[NCBI]
|
4.85242e-05
|
|
|
COFS1
|
[NCBI]
|
4.82776e-05
|
|
|
EA1
|
[NCBI]
|
4.82776e-05
|
|
|
CTSD
|
[NCBI]
|
4.7761e-05
|
|
|
synovitis, granulomatous, with uveitis and cranial neuropathies
|
[NCBI]
|
4.72836e-05
|
|
|
CACNA1S
|
[NCBI]
|
4.70525e-05
|
|
|
myotonia congenita, autosomal dominant
|
[NCBI]
|
4.38435e-05
|
|
|
COL6A1
|
[NCBI]
|
4.22712e-05
|
|
|
UCMD
|
[NCBI]
|
4.16888e-05
|
|
|
MADA
|
[NCBI]
|
4.04043e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
4.04043e-05
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
3.66109e-05
|
|
|
LGMD2A
|
[NCBI]
|
3.48087e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
3.39836e-05
|
|
|
RYR1
|
[NCBI]
|
3.21729e-05
|
|
|
SJS1
|
[NCBI]
|
3.14146e-05
|
|
|
RTS
|
[NCBI]
|
2.83927e-05
|
|
|
sotos syndrome
|
[NCBI]
|
2.83927e-05
|
|
|
FCMD
|
[NCBI]
|
2.8123e-05
|
|
|
ILK
|
[NCBI]
|
2.78977e-05
|
|
|
bullous erythroderma ichthyosiformis congenita of brocq
|
[NCBI]
|
2.63688e-05
|
|
|
PMD
|
[NCBI]
|
1.58173e-05
|
|
|
DMD
|
[NCBI]
|
1.14177e-05
|
|
|
HD
|
[NCBI]
|
1.05854e-05
|
|
|
WBS
|
[NCBI]
|
1.05785e-05
|
|
|
AS
|
[NCBI]
|
4.97342e-06
|
|
|
temporal arteritis
|
[NCBI]
|
2.10092e-06
|
|
|
TNF
|
[NCBI]
|
1.17656e-06
|
|
|
VRNI
|
[NCBI]
|
5.30209e-07
|
|
|
RP
|
[NCBI]
|
2.29581e-07
|
|
|
VEGF
|
[NCBI]
|
1.87665e-07
|
|
|
KLK3
|
[NCBI]
|
2.56298e-08
|
|
|
PD
|
[NCBI]
|
1.83855e-08
|
|