|
OMIM |
Link |
Information gain |
01 |
|
cerebellar hypoplasia, mental retardation, and quadrupedal locomotion
|
[NCBI]
|
0.00196733
|
|
|
neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive
|
[NCBI]
|
0.0011605
|
|
|
DA10
|
[NCBI]
|
0.0011605
|
|
|
AMCX5
|
[NCBI]
|
0.0011605
|
|
|
ADSD
|
[NCBI]
|
0.0011605
|
|
|
SCA21
|
[NCBI]
|
0.000895719
|
|
|
spastic diplegia, infantile type
|
[NCBI]
|
0.000895719
|
|
|
DSMA3
|
[NCBI]
|
0.00073147
|
|
|
PSNP2
|
[NCBI]
|
0.00073147
|
|
|
IS1
|
[NCBI]
|
0.000679491
|
|
|
kyphomelic dysplasia
|
[NCBI]
|
0.000645473
|
|
|
geleophysic dysplasia
|
[NCBI]
|
0.000645473
|
|
|
ocular motor apraxia
|
[NCBI]
|
0.00061387
|
|
|
basal ganglia calcification, idiopathic, childhood-onset
|
[NCBI]
|
0.00061387
|
|
|
PD
|
[NCBI]
|
0.000549545
|
|
|
masa syndrome
|
[NCBI]
|
0.000531872
|
|
|
IBGC1
|
[NCBI]
|
0.000491221
|
|
|
AS
|
[NCBI]
|
0.000413734
|
|
|
usher syndrome, type i
|
[NCBI]
|
0.00028745
|
|
|
EKD1
|
[NCBI]
|
0.000274173
|
|
|
FRDA
|
[NCBI]
|
0.000179458
|
|
|
GAN1
|
[NCBI]
|
0.000140438
|
|
|
spastic paraplegia with myoclonic epilepsy
|
[NCBI]
|
0.000128929
|
|
|
tremor of intention, ataxia, and lipofuscinosis
|
[NCBI]
|
0.000128929
|
|
|
cerebral sclerosis similar to pelizaeus-merzbacher disease
|
[NCBI]
|
0.000128929
|
|
|
CF
|
[NCBI]
|
0.000123631
|
|
|
L1CAM
|
[NCBI]
|
0.000122102
|
|
|
ulna metaphyseal dysplasia syndrome
|
[NCBI]
|
0.000101187
|
|
|
CMT1B
|
[NCBI]
|
9.3757e-05
|
|
|
dystonia, familial, with visual failure and striatal lucencies
|
[NCBI]
|
9.07357e-05
|
|
|
larynx, congenital partial atresia of
|
[NCBI]
|
8.396e-05
|
|
|
roussy-levy hereditary areflexic dystasia
|
[NCBI]
|
8.396e-05
|
|
|
marshall-smith syndrome
|
[NCBI]
|
8.396e-05
|
|
|
ACHE
|
[NCBI]
|
7.70657e-05
|
|
|
scapuloperoneal syndrome, neurogenic, kaeser type
|
[NCBI]
|
7.49278e-05
|
|
|
myopathy, centronuclear, autosomal dominant
|
[NCBI]
|
7.49278e-05
|
|
|
EPHA4
|
[NCBI]
|
7.09554e-05
|
|
|
aceruloplasminemia
|
[NCBI]
|
6.87652e-05
|
|
|
PLSJ
|
[NCBI]
|
6.62863e-05
|
|
|
SPG11
|
[NCBI]
|
6.62863e-05
|
|
|
DMC
|
[NCBI]
|
6.62863e-05
|
|
|
LGMD1A
|
[NCBI]
|
6.21129e-05
|
|
|
SNDI
|
[NCBI]
|
6.03211e-05
|
|
|
RA
|
[NCBI]
|
6.02513e-05
|
|
|
sacral defect with anterior meningocele
|
[NCBI]
|
5.86816e-05
|
|
|
camurati-engelmann disease
|
[NCBI]
|
5.2098e-05
|
|
|
MNS
|
[NCBI]
|
5.2098e-05
|
|
|
PSNP1
|
[NCBI]
|
4.72221e-05
|
|
|
DRD
|
[NCBI]
|
4.72221e-05
|
|
|
FHM1
|
[NCBI]
|
4.40715e-05
|
|
|
HSAS
|
[NCBI]
|
4.33613e-05
|
|
|
HD
|
[NCBI]
|
4.03508e-05
|
|
|
SPG3A
|
[NCBI]
|
4.01743e-05
|
|
|
PNPLA6
|
[NCBI]
|
4.01048e-05
|
|
|
EFNB3
|
[NCBI]
|
3.75439e-05
|
|
|
FOP
|
[NCBI]
|
3.64904e-05
|
|
|
NAPA
|
[NCBI]
|
3.60418e-05
|
|
|
RSTS
|
[NCBI]
|
3.60215e-05
|
|
|
sotos syndrome
|
[NCBI]
|
3.42625e-05
|
|
|
LNS
|
[NCBI]
|
3.30515e-05
|
|
|
AMC
|
[NCBI]
|
3.22893e-05
|
|
|
bullous erythroderma ichthyosiformis congenita of brocq
|
[NCBI]
|
3.15598e-05
|
|
|
PAPSS2
|
[NCBI]
|
2.99619e-05
|
|
|
PLOD1
|
[NCBI]
|
2.64751e-05
|
|
|
SCA2
|
[NCBI]
|
2.5627e-05
|
|
|
GALC
|
[NCBI]
|
2.5506e-05
|
|
|
MN
|
[NCBI]
|
2.41192e-05
|
|
|
HMI
|
[NCBI]
|
2.39453e-05
|
|
|
SPG4
|
[NCBI]
|
2.37764e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
2.36123e-05
|
|
|
krabbe disease
|
[NCBI]
|
2.07765e-05
|
|
|
ABCD1
|
[NCBI]
|
1.96514e-05
|
|
|
CLU
|
[NCBI]
|
1.85352e-05
|
|
|
MS
|
[NCBI]
|
1.81558e-05
|
|
|
GDNF
|
[NCBI]
|
1.76088e-05
|
|
|
AD
|
[NCBI]
|
1.67652e-05
|
|
|
DRPLA
|
[NCBI]
|
1.34532e-05
|
|
|
CHS
|
[NCBI]
|
1.33508e-05
|
|
|
COMP
|
[NCBI]
|
1.33302e-05
|
|
|
PLG
|
[NCBI]
|
1.27932e-05
|
|
|
IAPP
|
[NCBI]
|
1.18771e-05
|
|
|
CP
|
[NCBI]
|
1.09553e-05
|
|
|
MAG
|
[NCBI]
|
9.99656e-06
|
|
|
MJD
|
[NCBI]
|
7.16842e-06
|
|
|
PWS
|
[NCBI]
|
7.14298e-06
|
|
|
BDNF
|
[NCBI]
|
6.84427e-06
|
|
|
SLC6A3
|
[NCBI]
|
6.33758e-06
|
|
|
MDD
|
[NCBI]
|
6.33329e-06
|
|
|
GAPDH
|
[NCBI]
|
5.94386e-06
|
|
|
TH
|
[NCBI]
|
5.20899e-06
|
|
|
ALD
|
[NCBI]
|
3.32956e-06
|
|
|
CJD
|
[NCBI]
|
3.21616e-06
|
|
|
NPPA
|
[NCBI]
|
2.52305e-06
|
|
|
CAT
|
[NCBI]
|
2.17538e-06
|
|
|
EGF
|
[NCBI]
|
1.8043e-06
|
|
|
GFAP
|
[NCBI]
|
6.27639e-07
|
|
|
PTH
|
[NCBI]
|
3.67999e-08
|
|
|
NGFB
|
[NCBI]
|
1.46688e-08
|
|
|
RP
|
[NCBI]
|
1.2961e-10
|
|