|
OMIM |
Link |
Information gain |
01 |
|
amyotrophic lateral sclerosis, juvenile, with dementia
|
[NCBI]
|
0.0022624
|
|
|
ketoaciduria with mental deficiency and other features
|
[NCBI]
|
0.002044646
|
|
|
retinoschisis of fovea
|
[NCBI]
|
0.001779734
|
|
|
SCAR3
|
[NCBI]
|
0.001697672
|
|
|
microcephaly with chorioretinopathy, autosomal recessive
|
[NCBI]
|
0.001604933
|
|
|
myopathy, tubular aggregate
|
[NCBI]
|
0.001312491
|
|
|
hyperekplexia, hereditary
|
[NCBI]
|
0.001291156
|
|
|
amyotrophy, monomelic
|
[NCBI]
|
0.001205746
|
|
|
achoo syndrome
|
[NCBI]
|
0.001195926
|
|
|
carnitine deficiency, myopathic
|
[NCBI]
|
0.001195926
|
|
|
IH
|
[NCBI]
|
0.001176096
|
|
|
CGF
|
[NCBI]
|
0.001084174
|
|
|
FRNS
|
[NCBI]
|
0.000768722
|
|
|
jumping frenchman of maine
|
[NCBI]
|
0.000693604
|
|
|
GLRA1
|
[NCBI]
|
0.000568522
|
|
|
charcot-marie-tooth disease, axonal, type 2j
|
[NCBI]
|
0.000377856
|
|
|
VED
|
[NCBI]
|
0.000292188
|
|
|
GSD
|
[NCBI]
|
0.000285722
|
|
|
RA
|
[NCBI]
|
0.000262575
|
|
|
kallmann syndrome with spastic paraplegia
|
[NCBI]
|
0.000257799
|
|
|
spinal intradural arachnoid cysts
|
[NCBI]
|
0.000257799
|
|
|
HRX
|
[NCBI]
|
0.000257799
|
|
|
hypertrophic neuropathy and cataract
|
[NCBI]
|
0.000257799
|
|
|
cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
|
[NCBI]
|
0.000257799
|
|
|
choroid plexus calcification and mental retardation
|
[NCBI]
|
0.0002353377
|
|
|
MPZ
|
[NCBI]
|
0.0002270069
|
|
|
neuraminidase deficiency
|
[NCBI]
|
0.0002234336
|
|
|
PD
|
[NCBI]
|
0.00021634
|
|
|
geographic tongue and fissured tongue
|
[NCBI]
|
0.0001991112
|
|
|
MJD
|
[NCBI]
|
0.0001951482
|
|
|
adie pupil
|
[NCBI]
|
0.0001936146
|
|
|
spastic ataxia
|
[NCBI]
|
0.0001831496
|
|
|
roussy-levy hereditary areflexic dystasia
|
[NCBI]
|
0.0001722751
|
|
|
charcot-marie-tooth disease and deafness
|
[NCBI]
|
0.000159962
|
|
|
polymicrogyria, bilateral frontoparietal
|
[NCBI]
|
0.0001566251
|
|
|
thyrotropin deficiency, isolated
|
[NCBI]
|
0.0001480578
|
|
|
XPB
|
[NCBI]
|
0.0001442431
|
|
|
de sanctis-cacchione syndrome
|
[NCBI]
|
0.0001433309
|
|
|
PLSJ
|
[NCBI]
|
0.0001408378
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
0.0001380329
|
|
|
XPV
|
[NCBI]
|
0.0001366359
|
|
|
INAD1
|
[NCBI]
|
0.0001326347
|
|
|
ACCPN
|
[NCBI]
|
0.0001303713
|
|
|
indifference to pain, congenital, autosomal recessive
|
[NCBI]
|
0.0001291348
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive
|
[NCBI]
|
0.0001288465
|
|
|
HMN5
|
[NCBI]
|
0.00012761
|
|
|
CDS
|
[NCBI]
|
0.0001264628
|
|
|
amyloidosis v
|
[NCBI]
|
0.0001249731
|
|
|
neuropathy, congenital hypomyelinating
|
[NCBI]
|
0.0001204224
|
|
|
lymphedema-distichiasis syndrome
|
[NCBI]
|
0.0001187427
|
|
|
CIPA
|
[NCBI]
|
0.0001177486
|
|
|
HOXB8
|
[NCBI]
|
0.0001175554
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
0.0001145931
|
|
|
P2RX3
|
[NCBI]
|
0.0001036852
|
|
|
TGD
|
[NCBI]
|
0.0001025651
|
|
|
AUH
|
[NCBI]
|
0.0001001045
|
|
|
myoclonic epilepsy of lafora
|
[NCBI]
|
9.95781e-05
|
|
|
XPA
|
[NCBI]
|
8.6169e-05
|
|
|
myoclonic epilepsy of unverricht and lundborg
|
[NCBI]
|
8.57066e-05
|
|
|
ERCC3
|
[NCBI]
|
8.46001e-05
|
|
|
CSA
|
[NCBI]
|
8.18513e-05
|
|
|
HNPP
|
[NCBI]
|
8.04605e-05
|
|
|
GTS
|
[NCBI]
|
7.91687e-05
|
|
|
TRPV1
|
[NCBI]
|
6.97007e-05
|
|
|
SLC18A3
|
[NCBI]
|
6.29413e-05
|
|
|
KSS
|
[NCBI]
|
4.85799e-05
|
|
|
PMP22
|
[NCBI]
|
4.66644e-05
|
|
|
SMAX1
|
[NCBI]
|
4.61869e-05
|
|
|
DRPLA
|
[NCBI]
|
4.41944e-05
|
|
|
CHS
|
[NCBI]
|
4.02969e-05
|
|
|
leber optic atrophy
|
[NCBI]
|
3.8348e-05
|
|
|
SLOS
|
[NCBI]
|
3.75509e-05
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
3.55368e-05
|
|
|
NGFB
|
[NCBI]
|
2.943572e-05
|
|
|
ALD
|
[NCBI]
|
1.815961e-05
|
|
|
CRH
|
[NCBI]
|
1.245437e-05
|
|
|
ACHE
|
[NCBI]
|
1.237943e-05
|
|
|
AD
|
[NCBI]
|
3.502744e-07
|
|
|
TNF
|
[NCBI]
|
2.251703e-07
|
|
|
MG
|
[NCBI]
|
1.590817e-07
|
|