|
OMIM |
Link |
Information gain |
01 |
|
NYS2
|
[NCBI]
|
0.00561159
|
|
|
epiphyseal dysplasia, microcephaly, and nystagmus
|
[NCBI]
|
0.00212367
|
|
|
nystagmus, voluntary
|
[NCBI]
|
0.00184468
|
|
|
NYS3
|
[NCBI]
|
0.00184468
|
|
|
spinocerebellar ataxia 29
|
[NCBI]
|
0.00181877
|
|
|
tremor, nystagmus, and duodenal ulcer
|
[NCBI]
|
0.000919326
|
|
|
nystagmus, hereditary vertical
|
[NCBI]
|
0.000919326
|
|
|
CPD2
|
[NCBI]
|
0.000701812
|
|
|
NYS4
|
[NCBI]
|
0.000701812
|
|
|
OFD3
|
[NCBI]
|
0.000619991
|
|
|
microcephaly with chorioretinopathy, autosomal recessive
|
[NCBI]
|
0.000527733
|
|
|
RCD1
|
[NCBI]
|
0.000470641
|
|
|
EA2
|
[NCBI]
|
0.000465455
|
|
|
oculocerebral syndrome with hypopigmentation
|
[NCBI]
|
0.00044855
|
|
|
MCOPS1
|
[NCBI]
|
0.00039693
|
|
|
foveal hypoplasia and presenile cataract syndrome
|
[NCBI]
|
0.000380706
|
|
|
epilepsy, myoclonic, benign adult familial, type 1
|
[NCBI]
|
0.000370394
|
|
|
CBBM
|
[NCBI]
|
0.000358734
|
|
|
lymphedema, microcephaly, chorioretinopathy syndrome
|
[NCBI]
|
0.000337899
|
|
|
AIED
|
[NCBI]
|
0.000296137
|
|
|
NYS1
|
[NCBI]
|
0.000250515
|
|
|
mental retardation syndrome, mietens-weber type
|
[NCBI]
|
0.000228653
|
|
|
PAX6
|
[NCBI]
|
0.00021026
|
|
|
split-hand with congenital nystagmus, fundal changes, and cataracts
|
[NCBI]
|
0.000197712
|
|
|
alport syndrome, autosomal dominant
|
[NCBI]
|
0.000188164
|
|
|
paroxysmal tonic upgaze, benign childhood, with ataxia
|
[NCBI]
|
0.000183735
|
|
|
FHM1
|
[NCBI]
|
0.000182299
|
|
|
SPS
|
[NCBI]
|
0.000170538
|
|
|
OCA1A
|
[NCBI]
|
0.000167463
|
|
|
RP14
|
[NCBI]
|
0.000166799
|
|
|
HGPPS
|
[NCBI]
|
0.000160834
|
|
|
RA
|
[NCBI]
|
0.000157317
|
|
|
EA1
|
[NCBI]
|
0.000131124
|
|
|
MJD
|
[NCBI]
|
0.00012636
|
|
|
TULP1
|
[NCBI]
|
0.000124913
|
|
|
hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses
|
[NCBI]
|
0.000114221
|
|
|
ectopia pupillae
|
[NCBI]
|
0.000114221
|
|
|
cerebral sclerosis similar to pelizaeus-merzbacher disease
|
[NCBI]
|
0.000114221
|
|
|
chorea, remitting, with nystagmus and cataract
|
[NCBI]
|
0.000114221
|
|
|
coloboma of macula and skeletal anomalies
|
[NCBI]
|
0.000114221
|
|
|
OA1
|
[NCBI]
|
9.83765e-05
|
|
|
SCA6
|
[NCBI]
|
9.5201e-05
|
|
|
CHS
|
[NCBI]
|
9.32578e-05
|
|
|
AN2
|
[NCBI]
|
9.25527e-05
|
|
|
aplasia cutis congenita, high myopia, and cone-rod dysfunction
|
[NCBI]
|
9.17626e-05
|
|
|
triglyceride storage disease, type ii
|
[NCBI]
|
9.17626e-05
|
|
|
SOX21
|
[NCBI]
|
8.81249e-05
|
|
|
NPC1
|
[NCBI]
|
8.01737e-05
|
|
|
coloboma of macula with type b brachydactyly
|
[NCBI]
|
7.78002e-05
|
|
|
pelizaeus-merzbacher-like disease, autosomal recessive, 1
|
[NCBI]
|
7.78002e-05
|
|
|
CSCD
|
[NCBI]
|
7.78002e-05
|
|
|
CORD6
|
[NCBI]
|
7.78002e-05
|
|
|
SLE
|
[NCBI]
|
7.57848e-05
|
|
|
SCA1
|
[NCBI]
|
7.10835e-05
|
|
|
basal ganglia disease, adult-onset
|
[NCBI]
|
7.04682e-05
|
|
|
hypotension, orthostatic
|
[NCBI]
|
6.77678e-05
|
|
|
SCA5
|
[NCBI]
|
6.77678e-05
|
|
|
3-@methylglutaconic aciduria, type iii
|
[NCBI]
|
6.77678e-05
|
|
|
CCT
|
[NCBI]
|
6.32586e-05
|
|
|
GJC2
|
[NCBI]
|
6.12584e-05
|
|
|
ZIC2
|
[NCBI]
|
5.95952e-05
|
|
|
HPS
|
[NCBI]
|
5.77186e-05
|
|
|
DRPLA
|
[NCBI]
|
5.77186e-05
|
|
|
SACS
|
[NCBI]
|
5.60056e-05
|
|
|
KCNA1
|
[NCBI]
|
5.48274e-05
|
|
|
HPS1
|
[NCBI]
|
5.39238e-05
|
|
|
ACHM2
|
[NCBI]
|
5.37933e-05
|
|
|
CRX
|
[NCBI]
|
5.23317e-05
|
|
|
CORD2
|
[NCBI]
|
5.18534e-05
|
|
|
GUCY2D
|
[NCBI]
|
4.92054e-05
|
|
|
DCT
|
[NCBI]
|
4.81875e-05
|
|
|
EAOH
|
[NCBI]
|
4.78487e-05
|
|
|
CSNB1A
|
[NCBI]
|
4.71577e-05
|
|
|
EPHX1
|
[NCBI]
|
4.52764e-05
|
|
|
RS1
|
[NCBI]
|
4.19464e-05
|
|
|
MEB
|
[NCBI]
|
3.97776e-05
|
|
|
CACNA1A
|
[NCBI]
|
3.96647e-05
|
|
|
OCA2
|
[NCBI]
|
3.9365e-05
|
|
|
SPG3A
|
[NCBI]
|
3.89634e-05
|
|
|
CSA
|
[NCBI]
|
3.45336e-05
|
|
|
myoclonic epilepsy of unverricht and lundborg
|
[NCBI]
|
3.42417e-05
|
|
|
sotos syndrome
|
[NCBI]
|
3.36748e-05
|
|
|
SCA7
|
[NCBI]
|
3.33994e-05
|
|
|
HDC
|
[NCBI]
|
3.02415e-05
|
|
|
SCA2
|
[NCBI]
|
2.83772e-05
|
|
|
PMP22
|
[NCBI]
|
2.7507e-05
|
|
|
temporal arteritis
|
[NCBI]
|
2.60709e-05
|
|
|
CDLS1
|
[NCBI]
|
2.25111e-05
|
|
|
FRDA
|
[NCBI]
|
2.25111e-05
|
|
|
BDNF
|
[NCBI]
|
9.77735e-06
|
|
|
AT
|
[NCBI]
|
8.65338e-06
|
|
|
PD
|
[NCBI]
|
6.55736e-07
|
|
|
CJD
|
[NCBI]
|
8.34886e-09
|
|