|
OMIM |
Link |
Information gain |
01 |
|
opticocochleodentate degeneration
|
[NCBI]
|
0.00183281
|
|
|
NYS4
|
[NCBI]
|
0.00183281
|
|
|
SCAR2
|
[NCBI]
|
0.00139778
|
|
|
DYTCA
|
[NCBI]
|
0.000913502
|
|
|
JBTS1
|
[NCBI]
|
0.000723062
|
|
|
pontocerebellar hypoplasia, type 1
|
[NCBI]
|
0.000696005
|
|
|
ketoaciduria with mental deficiency and other features
|
[NCBI]
|
0.000696005
|
|
|
spinocerebellar ataxia with rigidity and peripheral neuropathy
|
[NCBI]
|
0.000696005
|
|
|
cerebellar atrophy with progressive microcephaly
|
[NCBI]
|
0.000614201
|
|
|
pontocerebellar hypoplasia, type 2
|
[NCBI]
|
0.000614201
|
|
|
behr syndrome
|
[NCBI]
|
0.000614201
|
|
|
cerebellar hypoplasia
|
[NCBI]
|
0.000614201
|
|
|
PSNP2
|
[NCBI]
|
0.000521977
|
|
|
EA4
|
[NCBI]
|
0.000521977
|
|
|
JBTS2
|
[NCBI]
|
0.000490783
|
|
|
peho syndrome
|
[NCBI]
|
0.000464919
|
|
|
cerebellar ataxia and hypogonadotropic hypogonadism
|
[NCBI]
|
0.000464919
|
|
|
SCAX1
|
[NCBI]
|
0.000464919
|
|
|
aniridia, cerebellar ataxia, and mental deficiency
|
[NCBI]
|
0.000423605
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.000342357
|
|
|
GLUD1
|
[NCBI]
|
0.000312573
|
|
|
IBGC1
|
[NCBI]
|
0.000283659
|
|
|
chiari malformation type i
|
[NCBI]
|
0.000258686
|
|
|
JBTS7
|
[NCBI]
|
0.000228234
|
|
|
CDR1
|
[NCBI]
|
0.000207818
|
|
|
DWS
|
[NCBI]
|
0.000192919
|
|
|
CD
|
[NCBI]
|
0.000176234
|
|
|
MJD
|
[NCBI]
|
0.000174785
|
|
|
SPS
|
[NCBI]
|
0.000165558
|
|
|
RPGRIP1L
|
[NCBI]
|
0.000160618
|
|
|
SCA7
|
[NCBI]
|
0.000152892
|
|
|
CDR2
|
[NCBI]
|
0.000141639
|
|
|
EKD1
|
[NCBI]
|
0.000128982
|
|
|
SCA1
|
[NCBI]
|
0.000125585
|
|
|
GSD
|
[NCBI]
|
0.000118376
|
|
|
optic atrophy--spastic paraplegia syndrome
|
[NCBI]
|
0.000114013
|
|
|
ichthyosis, hepatosplenomegaly, and cerebellar degeneration
|
[NCBI]
|
0.000114013
|
|
|
MKS5
|
[NCBI]
|
0.000114013
|
|
|
lipodystrophy with congenital cataracts and neurodegeneration
|
[NCBI]
|
0.000114013
|
|
|
spinocerebellar degeneration and corneal dystrophy
|
[NCBI]
|
0.000114013
|
|
|
aprosencephaly and cerebellar dysgenesis
|
[NCBI]
|
0.000114013
|
|
|
porencephaly, cerebellar hypoplasia, and internal malformations
|
[NCBI]
|
0.000114013
|
|
|
MSS
|
[NCBI]
|
0.000107379
|
|
|
GFAP
|
[NCBI]
|
0.000103324
|
|
|
CDG1A
|
[NCBI]
|
9.34389e-05
|
|
|
OPCA V
|
[NCBI]
|
9.15549e-05
|
|
|
spinocerebellar ataxia, x-linked 3
|
[NCBI]
|
9.15549e-05
|
|
|
spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia
|
[NCBI]
|
9.15549e-05
|
|
|
JBTS6
|
[NCBI]
|
9.15549e-05
|
|
|
FCMD
|
[NCBI]
|
8.85529e-05
|
|
|
ABL
|
[NCBI]
|
8.6372e-05
|
|
|
neuronal intranuclear inclusion disease
|
[NCBI]
|
8.3087e-05
|
|
|
sakoda complex
|
[NCBI]
|
8.3087e-05
|
|
|
SOX21
|
[NCBI]
|
8.01986e-05
|
|
|
SCA2
|
[NCBI]
|
7.81179e-05
|
|
|
CACNA1A
|
[NCBI]
|
7.76955e-05
|
|
|
arachnoid cysts, intracranial
|
[NCBI]
|
7.75929e-05
|
|
|
axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
|
[NCBI]
|
7.75929e-05
|
|
|
SLE
|
[NCBI]
|
7.74449e-05
|
|
|
mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance
|
[NCBI]
|
7.35111e-05
|
|
|
cerebellotrigeminal dermal dysplasia
|
[NCBI]
|
7.02613e-05
|
|
|
OPTB5
|
[NCBI]
|
6.7561e-05
|
|
|
gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
|
[NCBI]
|
6.7561e-05
|
|
|
AN1
|
[NCBI]
|
6.52515e-05
|
|
|
MDC1C
|
[NCBI]
|
6.52515e-05
|
|
|
VLDLRCH
|
[NCBI]
|
6.32341e-05
|
|
|
BPP
|
[NCBI]
|
6.14434e-05
|
|
|
OTX2
|
[NCBI]
|
6.12225e-05
|
|
|
ST8SIA4
|
[NCBI]
|
6.12225e-05
|
|
|
AP3B2
|
[NCBI]
|
6.12225e-05
|
|
|
GLUD2
|
[NCBI]
|
6.12225e-05
|
|
|
spinocerebellar ataxia, 16q22-linked
|
[NCBI]
|
5.98339e-05
|
|
|
megalencephaly-cutis marmorata telangiectatica congenita
|
[NCBI]
|
5.98339e-05
|
|
|
TMEM67
|
[NCBI]
|
5.78478e-05
|
|
|
PTEN
|
[NCBI]
|
5.75426e-05
|
|
|
SNDI
|
[NCBI]
|
5.70341e-05
|
|
|
SACS
|
[NCBI]
|
5.58001e-05
|
|
|
ichthyosis vulgaris
|
[NCBI]
|
5.46555e-05
|
|
|
OSTM1
|
[NCBI]
|
5.33406e-05
|
|
|
FXTAS
|
[NCBI]
|
5.25886e-05
|
|
|
KCNJ6
|
[NCBI]
|
5.16791e-05
|
|
|
ZIC2
|
[NCBI]
|
5.16791e-05
|
|
|
crouzon syndrome
|
[NCBI]
|
4.99225e-05
|
|
|
SPG2
|
[NCBI]
|
4.91258e-05
|
|
|
OPHN1
|
[NCBI]
|
4.90145e-05
|
|
|
SACS
|
[NCBI]
|
4.90145e-05
|
|
|
EA2
|
[NCBI]
|
4.62927e-05
|
|
|
PSNP1
|
[NCBI]
|
4.56583e-05
|
|
|
VWM
|
[NCBI]
|
4.56583e-05
|
|
|
PGF
|
[NCBI]
|
4.519e-05
|
|
|
EIF2B5
|
[NCBI]
|
4.519e-05
|
|
|
IVA
|
[NCBI]
|
4.50489e-05
|
|
|
DLD
|
[NCBI]
|
4.372e-05
|
|
|
CJD
|
[NCBI]
|
4.32282e-05
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
4.28266e-05
|
|
|
FHM1
|
[NCBI]
|
4.23178e-05
|
|
|
DCT
|
[NCBI]
|
4.02953e-05
|
|
|
apert syndrome
|
[NCBI]
|
4.00005e-05
|
|
|
FKRP
|
[NCBI]
|
3.73963e-05
|
|
|
sandhoff disease
|
[NCBI]
|
3.72558e-05
|
|
|
amyloidosis vi
|
[NCBI]
|
3.61944e-05
|
|
|
HEXB
|
[NCBI]
|
3.43437e-05
|
|
|
CCM
|
[NCBI]
|
3.29316e-05
|
|
|
DBI
|
[NCBI]
|
3.28867e-05
|
|
|
THRB
|
[NCBI]
|
3.20246e-05
|
|
|
PD
|
[NCBI]
|
3.1388e-05
|
|
|
PLP1
|
[NCBI]
|
3.08605e-05
|
|
|
RNASE2
|
[NCBI]
|
2.94999e-05
|
|
|
ALD
|
[NCBI]
|
2.80336e-05
|
|
|
BBS
|
[NCBI]
|
2.10184e-05
|
|
|
VHL
|
[NCBI]
|
2.0906e-05
|
|
|
PEDF
|
[NCBI]
|
2.06298e-05
|
|
|
IS1
|
[NCBI]
|
1.56421e-05
|
|
|
TSD
|
[NCBI]
|
1.52655e-05
|
|
|
CHS
|
[NCBI]
|
1.47194e-05
|
|
|
APOB
|
[NCBI]
|
9.01618e-06
|
|
|
CHAT
|
[NCBI]
|
8.10866e-06
|
|
|
ADA
|
[NCBI]
|
6.17334e-06
|
|
|
AD
|
[NCBI]
|
6.08538e-06
|
|
|
RNASE3
|
[NCBI]
|
5.78487e-06
|
|
|
BDNF
|
[NCBI]
|
3.81124e-06
|
|
|
TH
|
[NCBI]
|
3.09548e-06
|
|
|
PCNA
|
[NCBI]
|
1.5375e-07
|
|