|
OMIM |
Link |
Information gain |
01 |
|
EA4
|
[NCBI]
|
0.00432406
|
|
|
AXPC1
|
[NCBI]
|
0.00222882
|
|
|
cerebellar ataxia and hypogonadotropic hypogonadism
|
[NCBI]
|
0.00183279
|
|
|
ataxia, sensory, autosomal dominant
|
[NCBI]
|
0.00171714
|
|
|
SPAX1
|
[NCBI]
|
0.00171714
|
|
|
EA3
|
[NCBI]
|
0.00171714
|
|
|
SCAR2
|
[NCBI]
|
0.00128253
|
|
|
SCAX1
|
[NCBI]
|
0.00106197
|
|
|
aniridia, cerebellar ataxia, and mental deficiency
|
[NCBI]
|
0.000972165
|
|
|
erythrokeratodermia with ataxia
|
[NCBI]
|
0.000856564
|
|
|
SCA18
|
[NCBI]
|
0.000856564
|
|
|
ataxia, deafness, and cardiomyopathy
|
[NCBI]
|
0.000856564
|
|
|
ataxia, spastic, with congenital miosis
|
[NCBI]
|
0.000856564
|
|
|
immunoneurologic disorder, x-linked
|
[NCBI]
|
0.000856564
|
|
|
nystagmus, hereditary vertical
|
[NCBI]
|
0.000856564
|
|
|
cataract, ataxia, short stature, and mental retardation
|
[NCBI]
|
0.000856564
|
|
|
AMRF
|
[NCBI]
|
0.000639274
|
|
|
JBTS1
|
[NCBI]
|
0.00061256
|
|
|
EA2
|
[NCBI]
|
0.000595077
|
|
|
FXTAS
|
[NCBI]
|
0.000573309
|
|
|
SCAR6
|
[NCBI]
|
0.000557676
|
|
|
cerebral palsy, ataxic, autosomal recessive
|
[NCBI]
|
0.000465865
|
|
|
SLE
|
[NCBI]
|
0.000448544
|
|
|
EAOH
|
[NCBI]
|
0.000439388
|
|
|
SCA4
|
[NCBI]
|
0.000434877
|
|
|
SACS
|
[NCBI]
|
0.000417567
|
|
|
MJD
|
[NCBI]
|
0.000416019
|
|
|
chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
|
[NCBI]
|
0.00040922
|
|
|
SANDO
|
[NCBI]
|
0.000408867
|
|
|
EA1
|
[NCBI]
|
0.000401052
|
|
|
PNPLA6
|
[NCBI]
|
0.000400906
|
|
|
APTX
|
[NCBI]
|
0.00038969
|
|
|
arima syndrome
|
[NCBI]
|
0.000387353
|
|
|
oculocerebral syndrome with hypopigmentation
|
[NCBI]
|
0.000387353
|
|
|
kohlschutter-tonz syndrome
|
[NCBI]
|
0.000387353
|
|
|
VED
|
[NCBI]
|
0.000380688
|
|
|
AS
|
[NCBI]
|
0.00036846
|
|
|
immune defect due to absence of thymus
|
[NCBI]
|
0.000368318
|
|
|
SCAR1
|
[NCBI]
|
0.000354072
|
|
|
spinocerebellar ataxia 29
|
[NCBI]
|
0.000351483
|
|
|
SACS
|
[NCBI]
|
0.000345664
|
|
|
basal ganglia calcification, idiopathic, childhood-onset
|
[NCBI]
|
0.000336405
|
|
|
SCA7
|
[NCBI]
|
0.000325841
|
|
|
MTATP6
|
[NCBI]
|
0.000285863
|
|
|
ARTS
|
[NCBI]
|
0.000285804
|
|
|
AT
|
[NCBI]
|
0.000283024
|
|
|
KCNA1
|
[NCBI]
|
0.000260061
|
|
|
POLG
|
[NCBI]
|
0.00023651
|
|
|
IBGC1
|
[NCBI]
|
0.00023106
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
0.000225883
|
|
|
SCA17
|
[NCBI]
|
0.000212919
|
|
|
SCA1
|
[NCBI]
|
0.000208469
|
|
|
SETX
|
[NCBI]
|
0.000201317
|
|
|
TTPA
|
[NCBI]
|
0.000201317
|
|
|
VWM
|
[NCBI]
|
0.000201244
|
|
|
neuropathy, hereditary sensory, atypical
|
[NCBI]
|
0.000190471
|
|
|
cataract-ataxia-deafness-retardation syndrome
|
[NCBI]
|
0.000190471
|
|
|
MSS
|
[NCBI]
|
0.000187018
|
|
|
CACNA1A
|
[NCBI]
|
0.000175321
|
|
|
SCA27
|
[NCBI]
|
0.000159562
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
0.000158017
|
|
|
ATXN8OS
|
[NCBI]
|
0.000157443
|
|
|
hartnup disorder
|
[NCBI]
|
0.000149525
|
|
|
ASAT
|
[NCBI]
|
0.000145616
|
|
|
ATCAY
|
[NCBI]
|
0.000145616
|
|
|
refsum disease
|
[NCBI]
|
0.000138097
|
|
|
MLC
|
[NCBI]
|
0.000136113
|
|
|
branchial myoclonus with spastic paraparesis and cerebellar ataxia
|
[NCBI]
|
0.000136058
|
|
|
hemophagocytic lymphohistiocytosis, familial, 1
|
[NCBI]
|
0.000135037
|
|
|
USP14
|
[NCBI]
|
0.000133959
|
|
|
myoclonus and ataxia
|
[NCBI]
|
0.000128743
|
|
|
DRPLA
|
[NCBI]
|
0.000125824
|
|
|
JBTS3
|
[NCBI]
|
0.000117817
|
|
|
TBP
|
[NCBI]
|
0.000112727
|
|
|
NOVA1
|
[NCBI]
|
0.000106421
|
|
|
FRDA
|
[NCBI]
|
0.000103675
|
|
|
CACNB4
|
[NCBI]
|
0.000100543
|
|
|
FGF14
|
[NCBI]
|
0.000100543
|
|
|
congenital cataracts, facial dysmorphism, and neuropathy
|
[NCBI]
|
0.000100496
|
|
|
hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses
|
[NCBI]
|
9.52032e-05
|
|
|
tremor of intention, ataxia, and lipofuscinosis
|
[NCBI]
|
9.52032e-05
|
|
|
spinocerebellar ataxia, x-linked 4
|
[NCBI]
|
9.52032e-05
|
|
|
spinocerebellar ataxia, x-linked 2
|
[NCBI]
|
9.52032e-05
|
|
|
ataxia with fasciculations
|
[NCBI]
|
9.52032e-05
|
|
|
peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain
|
[NCBI]
|
9.52032e-05
|
|
|
ataxia with myoclonic epilepsy and presenile dementia
|
[NCBI]
|
9.52032e-05
|
|
|
3-@methylglutaconic aciduria, type v
|
[NCBI]
|
9.52032e-05
|
|
|
necrotizing encephalomyelopathy, subacute, of leigh, adult
|
[NCBI]
|
9.52032e-05
|
|
|
SDSEM
|
[NCBI]
|
9.52032e-05
|
|
|
bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency
|
[NCBI]
|
9.52032e-05
|
|
|
aceruloplasminemia
|
[NCBI]
|
9.33841e-05
|
|
|
PRPS1
|
[NCBI]
|
8.9309e-05
|
|
|
PRND
|
[NCBI]
|
8.9309e-05
|
|
|
SCA2
|
[NCBI]
|
8.248e-05
|
|
|
RELN
|
[NCBI]
|
7.86066e-05
|
|
|
EIF2B5
|
[NCBI]
|
7.86066e-05
|
|
|
CLN1
|
[NCBI]
|
7.72615e-05
|
|
|
PRNP
|
[NCBI]
|
7.51295e-05
|
|
|
sialuria, finnish type
|
[NCBI]
|
7.37217e-05
|
|
|
carnitine acetyltransferase deficiency
|
[NCBI]
|
7.27761e-05
|
|
|
posterior column ataxia
|
[NCBI]
|
7.27761e-05
|
|
|
ataxia-microcephaly-cataract syndrome
|
[NCBI]
|
7.27761e-05
|
|
|
OPCA V
|
[NCBI]
|
7.27761e-05
|
|
|
ataxic diplegia with defective cellular immunity
|
[NCBI]
|
7.27761e-05
|
|
|
cerebrofacioarticular syndrome
|
[NCBI]
|
7.27761e-05
|
|
|
JBTS6
|
[NCBI]
|
7.27761e-05
|
|
|
FHM1
|
[NCBI]
|
7.05569e-05
|
|
|
myoclonic epilepsy of lafora
|
[NCBI]
|
6.95726e-05
|
|
|
DNAJC19
|
[NCBI]
|
6.69505e-05
|
|
|
RORB
|
[NCBI]
|
6.69505e-05
|
|
|
PAFAH1B3
|
[NCBI]
|
6.69505e-05
|
|
|
INPP4A
|
[NCBI]
|
6.69505e-05
|
|
|
CNTN1
|
[NCBI]
|
6.69505e-05
|
|
|
hsc20, e. coli, homolog of
|
[NCBI]
|
6.69505e-05
|
|
|
geographic tongue and fissured tongue
|
[NCBI]
|
6.43395e-05
|
|
|
JBTS5
|
[NCBI]
|
6.43395e-05
|
|
|
neuropathy, ataxia, and retinitis pigmentosa
|
[NCBI]
|
6.43395e-05
|
|
|
SCA11
|
[NCBI]
|
6.43395e-05
|
|
|
AD
|
[NCBI]
|
6.31256e-05
|
|
|
spastic ataxia
|
[NCBI]
|
5.88768e-05
|
|
|
pelizaeus-merzbacher-like disease, autosomal recessive, 1
|
[NCBI]
|
5.88768e-05
|
|
|
coach syndrome
|
[NCBI]
|
5.88768e-05
|
|
|
paroxysmal tonic upgaze, benign childhood, with ataxia
|
[NCBI]
|
5.88768e-05
|
|
|
haw river syndrome
|
[NCBI]
|
5.88768e-05
|
|
|
LBSL
|
[NCBI]
|
5.88768e-05
|
|
|
SCA13
|
[NCBI]
|
5.88768e-05
|
|
|
SCA6
|
[NCBI]
|
5.84402e-05
|
|
|
myelocerebellar disorder
|
[NCBI]
|
5.48264e-05
|
|
|
cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly
|
[NCBI]
|
5.48264e-05
|
|
|
roussy-levy hereditary areflexic dystasia
|
[NCBI]
|
5.48264e-05
|
|
|
KSS
|
[NCBI]
|
5.32313e-05
|
|
|
ADAM22
|
[NCBI]
|
5.31816e-05
|
|
|
serine/threonine protein kinase 21
|
[NCBI]
|
5.31816e-05
|
|
|
CLK2
|
[NCBI]
|
5.31816e-05
|
|
|
ACHE
|
[NCBI]
|
5.22831e-05
|
|
|
basal ganglia disease, adult-onset
|
[NCBI]
|
5.1608e-05
|
|
|
choreoathetosis, hypothyroidism, and neonatal respiratory distress
|
[NCBI]
|
5.1608e-05
|
|
|
ABL
|
[NCBI]
|
5.0461e-05
|
|
|
optic atrophy 1 and deafness
|
[NCBI]
|
4.89391e-05
|
|
|
TTDN1
|
[NCBI]
|
4.89391e-05
|
|
|
SCA5
|
[NCBI]
|
4.89391e-05
|
|
|
achondroplasia, so-called, and severe combined immunodeficiency
|
[NCBI]
|
4.89391e-05
|
|
|
hypotension, orthostatic
|
[NCBI]
|
4.89391e-05
|
|
|
tyrosinemia, type iii
|
[NCBI]
|
4.89391e-05
|
|
|
PMPCB
|
[NCBI]
|
4.79919e-05
|
|
|
caytaxin
|
[NCBI]
|
4.79919e-05
|
|
|
leukodystrophy, adult-onset, autosomal dominant
|
[NCBI]
|
4.6661e-05
|
|
|
AN1
|
[NCBI]
|
4.6661e-05
|
|
|
microcephaly with spastic quadriplegia
|
[NCBI]
|
4.6661e-05
|
|
|
SCA8
|
[NCBI]
|
4.6661e-05
|
|
|
cerebral palsy, spastic, symmetric, autosomal recessive
|
[NCBI]
|
4.4675e-05
|
|
|
VLDLRCH
|
[NCBI]
|
4.4675e-05
|
|
|
SCA12
|
[NCBI]
|
4.4675e-05
|
|
|
NTRK3
|
[NCBI]
|
4.46259e-05
|
|
|
EGR3
|
[NCBI]
|
4.46259e-05
|
|
|
TMEM67
|
[NCBI]
|
4.46259e-05
|
|
|
GRM1
|
[NCBI]
|
4.46259e-05
|
|
|
NPC1
|
[NCBI]
|
4.42974e-05
|
|
|
ABCB7
|
[NCBI]
|
4.21259e-05
|
|
|
ITPR1
|
[NCBI]
|
4.21259e-05
|
|
|
de sanctis-cacchione syndrome
|
[NCBI]
|
4.13375e-05
|
|
|
SCA14
|
[NCBI]
|
4.13375e-05
|
|
|
SCN1B
|
[NCBI]
|
4.01361e-05
|
|
|
TTDN1
|
[NCBI]
|
4.01361e-05
|
|
|
GJC2
|
[NCBI]
|
4.01361e-05
|
|
|
MTTH
|
[NCBI]
|
4.01361e-05
|
|
|
MERRF
|
[NCBI]
|
3.86005e-05
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
3.86005e-05
|
|
|
SIL1
|
[NCBI]
|
3.84833e-05
|
|
|
MTTF
|
[NCBI]
|
3.84833e-05
|
|
|
LS
|
[NCBI]
|
3.80565e-05
|
|
|
HHS
|
[NCBI]
|
3.7398e-05
|
|
|
GNAQ
|
[NCBI]
|
3.70702e-05
|
|
|
SDHC
|
[NCBI]
|
3.70702e-05
|
|
|
AHI1
|
[NCBI]
|
3.70702e-05
|
|
|
JME
|
[NCBI]
|
3.62847e-05
|
|
|
GRIA1
|
[NCBI]
|
3.58361e-05
|
|
|
PEX12
|
[NCBI]
|
3.58361e-05
|
|
|
SLC1A3
|
[NCBI]
|
3.58361e-05
|
|
|
OPHN1
|
[NCBI]
|
3.58361e-05
|
|
|
MLC1
|
[NCBI]
|
3.58361e-05
|
|
|
C10ORF2
|
[NCBI]
|
3.47411e-05
|
|
|
phosphoribosylpyrophosphate synthetase superactivity
|
[NCBI]
|
3.42806e-05
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
3.42806e-05
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
3.42806e-05
|
|
|
SCN8A
|
[NCBI]
|
3.37571e-05
|
|
|
GABRB3
|
[NCBI]
|
3.2864e-05
|
|
|
holocarboxylase synthetase deficiency
|
[NCBI]
|
3.25166e-05
|
|
|
UCHL1
|
[NCBI]
|
3.20464e-05
|
|
|
alexander disease
|
[NCBI]
|
3.17086e-05
|
|
|
GLUD1
|
[NCBI]
|
3.12928e-05
|
|
|
EPM2A
|
[NCBI]
|
3.12928e-05
|
|
|
ATXN2
|
[NCBI]
|
3.12928e-05
|
|
|
MG
|
[NCBI]
|
3.1246e-05
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
3.09434e-05
|
|
|
SCA10
|
[NCBI]
|
3.09434e-05
|
|
|
SPG2
|
[NCBI]
|
3.09434e-05
|
|
|
NKX2-1
|
[NCBI]
|
3.05939e-05
|
|
|
GRB2
|
[NCBI]
|
2.99425e-05
|
|
|
GSD
|
[NCBI]
|
2.95253e-05
|
|
|
HSAN1
|
[NCBI]
|
2.95253e-05
|
|
|
BDNF
|
[NCBI]
|
2.89692e-05
|
|
|
MTTS1
|
[NCBI]
|
2.87593e-05
|
|
|
GAN1
|
[NCBI]
|
2.82358e-05
|
|
|
DST
|
[NCBI]
|
2.77069e-05
|
|
|
DRPLA
|
[NCBI]
|
2.72214e-05
|
|
|
MELAS
|
[NCBI]
|
2.70548e-05
|
|
|
infantile sialic acid storage disorder
|
[NCBI]
|
2.70548e-05
|
|
|
OPA1
|
[NCBI]
|
2.67597e-05
|
|
|
SCN1A
|
[NCBI]
|
2.63195e-05
|
|
|
FTL
|
[NCBI]
|
2.63195e-05
|
|
|
MAG
|
[NCBI]
|
2.45072e-05
|
|
|
TRPV1
|
[NCBI]
|
2.43833e-05
|
|
|
EPHX1
|
[NCBI]
|
2.43833e-05
|
|
|
CSTB
|
[NCBI]
|
2.404e-05
|
|
|
IL3
|
[NCBI]
|
2.3709e-05
|
|
|
KLK3
|
[NCBI]
|
2.32745e-05
|
|
|
PFIC1
|
[NCBI]
|
2.31428e-05
|
|
|
hyperoxaluria, primary, type i
|
[NCBI]
|
2.31428e-05
|
|
|
CP
|
[NCBI]
|
2.28825e-05
|
|
|
MTTK
|
[NCBI]
|
2.27815e-05
|
|
|
XPA
|
[NCBI]
|
2.2492e-05
|
|
|
CHAC
|
[NCBI]
|
2.23204e-05
|
|
|
PSAP
|
[NCBI]
|
2.16747e-05
|
|
|
anemia, sideroblastic, x-linked
|
[NCBI]
|
2.14178e-05
|
|
|
SMEI
|
[NCBI]
|
2.08171e-05
|
|
|
FXN
|
[NCBI]
|
1.84292e-05
|
|
|
PLP1
|
[NCBI]
|
1.8074e-05
|
|
|
CJD
|
[NCBI]
|
1.73048e-05
|
|
|
CSA
|
[NCBI]
|
1.71576e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
1.71576e-05
|
|
|
myoclonic epilepsy of unverricht and lundborg
|
[NCBI]
|
1.68973e-05
|
|
|
CMT1B
|
[NCBI]
|
1.61498e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
1.5448e-05
|
|
|
LKS
|
[NCBI]
|
1.52234e-05
|
|
|
maple syrup urine disease
|
[NCBI]
|
1.43681e-05
|
|
|
MTTL1
|
[NCBI]
|
1.43308e-05
|
|
|
RTT
|
[NCBI]
|
1.28354e-05
|
|
|
ATM
|
[NCBI]
|
1.16938e-05
|
|
|
IFNA1
|
[NCBI]
|
1.0248e-05
|
|
|
PTEN
|
[NCBI]
|
9.86518e-06
|
|
|
FFI
|
[NCBI]
|
7.94552e-06
|
|
|
AFP
|
[NCBI]
|
7.63622e-06
|
|
|
FMR1
|
[NCBI]
|
7.35534e-06
|
|
|
CD
|
[NCBI]
|
7.15755e-06
|
|
|
HD
|
[NCBI]
|
6.63504e-06
|
|
|
krabbe disease
|
[NCBI]
|
6.61743e-06
|
|
|
GFAP
|
[NCBI]
|
6.41938e-06
|
|
|
PMD
|
[NCBI]
|
5.80201e-06
|
|
|
OPMD
|
[NCBI]
|
5.7258e-06
|
|
|
LCAT
|
[NCBI]
|
5.58106e-06
|
|
|
TH
|
[NCBI]
|
5.56805e-06
|
|
|
EIG
|
[NCBI]
|
4.31672e-06
|
|
|
ALD
|
[NCBI]
|
3.61033e-06
|
|
|
AVP
|
[NCBI]
|
3.51841e-06
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
3.18147e-06
|
|
|
NGFB
|
[NCBI]
|
2.57167e-06
|
|
|
SOD2
|
[NCBI]
|
2.49043e-06
|
|
|
CHS
|
[NCBI]
|
2.19376e-06
|
|
|
APOB
|
[NCBI]
|
6.87617e-07
|
|
|
temporal arteritis
|
[NCBI]
|
6.58403e-07
|
|
|
CHAT
|
[NCBI]
|
3.6577e-07
|
|
|
VIP
|
[NCBI]
|
8.07672e-08
|
|
|
MBP
|
[NCBI]
|
3.48514e-08
|
|
|
PWS
|
[NCBI]
|
2.46279e-08
|
|