|
OMIM |
Link |
Information gain |
01 |
|
aniridia, cerebellar ataxia, and mental deficiency
|
[NCBI]
|
0.00476134
|
|
|
JBTS1
|
[NCBI]
|
0.00374524
|
|
|
spinocerebellar ataxia 29
|
[NCBI]
|
0.00366009
|
|
|
EOCA
|
[NCBI]
|
0.00253429
|
|
|
SCA1
|
[NCBI]
|
0.00172707
|
|
|
MJD
|
[NCBI]
|
0.00170674
|
|
|
SCA4
|
[NCBI]
|
0.00169507
|
|
|
cerebellar ataxia and hypogonadotropic hypogonadism
|
[NCBI]
|
0.00159842
|
|
|
SCAX1
|
[NCBI]
|
0.00159842
|
|
|
SCAR5
|
[NCBI]
|
0.00156137
|
|
|
CPD2
|
[NCBI]
|
0.00156137
|
|
|
DRPLA
|
[NCBI]
|
0.0013636
|
|
|
SCA19
|
[NCBI]
|
0.00112761
|
|
|
SCA6
|
[NCBI]
|
0.00112676
|
|
|
JBTS2
|
[NCBI]
|
0.000965247
|
|
|
SCA2
|
[NCBI]
|
0.000959827
|
|
|
chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
|
[NCBI]
|
0.000908346
|
|
|
SCA7
|
[NCBI]
|
0.000822834
|
|
|
CACNA1A
|
[NCBI]
|
0.000800766
|
|
|
SCA18
|
[NCBI]
|
0.000779464
|
|
|
DYTCA
|
[NCBI]
|
0.000779464
|
|
|
SPAX3
|
[NCBI]
|
0.000779464
|
|
|
olivopontocerebellar atrophy ii, autosomal recessive
|
[NCBI]
|
0.000779464
|
|
|
muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
|
[NCBI]
|
0.000779464
|
|
|
SPG30
|
[NCBI]
|
0.000779464
|
|
|
SPAX2
|
[NCBI]
|
0.000779464
|
|
|
spinocerebellar ataxia, 16q22-linked
|
[NCBI]
|
0.000772956
|
|
|
EA2
|
[NCBI]
|
0.000680927
|
|
|
HHG
|
[NCBI]
|
0.000562604
|
|
|
SCAR4
|
[NCBI]
|
0.000562604
|
|
|
spinocerebellar ataxia with rigidity and peripheral neuropathy
|
[NCBI]
|
0.000562604
|
|
|
NYS4
|
[NCBI]
|
0.000562604
|
|
|
CSE
|
[NCBI]
|
0.000481437
|
|
|
behr syndrome
|
[NCBI]
|
0.000481437
|
|
|
SCA20
|
[NCBI]
|
0.000481437
|
|
|
SCAR6
|
[NCBI]
|
0.000481437
|
|
|
MSS
|
[NCBI]
|
0.000471256
|
|
|
SCAR2
|
[NCBI]
|
0.000429114
|
|
|
hydroxykynureninuria
|
[NCBI]
|
0.000390488
|
|
|
EA4
|
[NCBI]
|
0.000390488
|
|
|
VLDLRCH
|
[NCBI]
|
0.000375649
|
|
|
IOSCA
|
[NCBI]
|
0.000359931
|
|
|
SPG23
|
[NCBI]
|
0.000334706
|
|
|
oculocerebral syndrome with hypopigmentation
|
[NCBI]
|
0.00031327
|
|
|
SLE
|
[NCBI]
|
0.000290774
|
|
|
EAOH
|
[NCBI]
|
0.000281294
|
|
|
FHM1
|
[NCBI]
|
0.000252098
|
|
|
DRPLA
|
[NCBI]
|
0.000249668
|
|
|
epilepsy, myoclonic, benign adult familial, type 1
|
[NCBI]
|
0.000238389
|
|
|
coenzyme q10 deficiency
|
[NCBI]
|
0.00023512
|
|
|
myelocerebellar disorder
|
[NCBI]
|
0.000230764
|
|
|
cerebellotrigeminal dermal dysplasia
|
[NCBI]
|
0.000217942
|
|
|
mevalonic aciduria
|
[NCBI]
|
0.000217942
|
|
|
myoclonus and ataxia
|
[NCBI]
|
0.000217942
|
|
|
MRX1
|
[NCBI]
|
0.000199129
|
|
|
PLEKHG4
|
[NCBI]
|
0.000195821
|
|
|
SCA12
|
[NCBI]
|
0.000192633
|
|
|
SCAR8
|
[NCBI]
|
0.000190084
|
|
|
spinocerebellar ataxia, x-linked 3
|
[NCBI]
|
0.000190084
|
|
|
cerebellar ataxia and hypergonadotropic hypogonadism
|
[NCBI]
|
0.000190084
|
|
|
myoclonus, cerebellar ataxia, and deafness
|
[NCBI]
|
0.000190084
|
|
|
ABCB7
|
[NCBI]
|
0.000184737
|
|
|
SCA14
|
[NCBI]
|
0.000181104
|
|
|
IBGC1
|
[NCBI]
|
0.000163017
|
|
|
EA1
|
[NCBI]
|
0.000160652
|
|
|
SCA11
|
[NCBI]
|
0.000159175
|
|
|
ataxia-deafness-retardation syndrome
|
[NCBI]
|
0.000159175
|
|
|
neuraminidase deficiency
|
[NCBI]
|
0.000152776
|
|
|
FRDA
|
[NCBI]
|
0.000145948
|
|
|
SYNE1
|
[NCBI]
|
0.000145347
|
|
|
SCA13
|
[NCBI]
|
0.000145231
|
|
|
ATCAY
|
[NCBI]
|
0.000145231
|
|
|
coach syndrome
|
[NCBI]
|
0.000145231
|
|
|
GSD
|
[NCBI]
|
0.000141768
|
|
|
renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia
|
[NCBI]
|
0.000135673
|
|
|
TBP
|
[NCBI]
|
0.000129774
|
|
|
caytaxin
|
[NCBI]
|
0.000126371
|
|
|
SCA5
|
[NCBI]
|
0.000122426
|
|
|
JBTS3
|
[NCBI]
|
0.000117434
|
|
|
PPP2R2B
|
[NCBI]
|
0.000111915
|
|
|
ITPR1
|
[NCBI]
|
0.000111915
|
|
|
SCAR1
|
[NCBI]
|
0.000105951
|
|
|
cerebellar ataxia and neurosensory deafness
|
[NCBI]
|
9.50102e-05
|
|
|
spinocerebellar ataxia with dysmorphism
|
[NCBI]
|
9.50102e-05
|
|
|
cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
|
[NCBI]
|
9.50102e-05
|
|
|
encephalopathy, recurrent, of childhood
|
[NCBI]
|
9.50102e-05
|
|
|
renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna
|
[NCBI]
|
9.50102e-05
|
|
|
cerebellar ataxia, benign, with thermoanalgesia
|
[NCBI]
|
9.50102e-05
|
|
|
megalencephaly with dysmyelination
|
[NCBI]
|
9.50102e-05
|
|
|
cholestasis with gallstone, ataxia, and visual disturbance
|
[NCBI]
|
9.50102e-05
|
|
|
SCN8A
|
[NCBI]
|
9.35599e-05
|
|
|
FXTAS
|
[NCBI]
|
9.09557e-05
|
|
|
GLUD1
|
[NCBI]
|
8.83499e-05
|
|
|
SCA10
|
[NCBI]
|
8.38974e-05
|
|
|
SCA17
|
[NCBI]
|
8.23603e-05
|
|
|
APTX
|
[NCBI]
|
7.79368e-05
|
|
|
THRAP2
|
[NCBI]
|
7.26222e-05
|
|
|
hypomyelination and congenital cataract
|
[NCBI]
|
7.25837e-05
|
|
|
piebald trait with neurologic defects
|
[NCBI]
|
7.25837e-05
|
|
|
pellagra-like syndrome
|
[NCBI]
|
7.25837e-05
|
|
|
karak syndrome
|
[NCBI]
|
7.25837e-05
|
|
|
FMR1
|
[NCBI]
|
6.70186e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
6.52075e-05
|
|
|
FDD
|
[NCBI]
|
6.41476e-05
|
|
|
cerebellar ataxia and ectodermal dysplasia
|
[NCBI]
|
6.41476e-05
|
|
|
DTGA1
|
[NCBI]
|
6.41476e-05
|
|
|
oculocerebral hypopigmentation syndrome of preus
|
[NCBI]
|
6.41476e-05
|
|
|
SPS
|
[NCBI]
|
6.2827e-05
|
|
|
CP
|
[NCBI]
|
6.12419e-05
|
|
|
ACP2
|
[NCBI]
|
5.88481e-05
|
|
|
RORA
|
[NCBI]
|
5.88481e-05
|
|
|
spastic ataxia
|
[NCBI]
|
5.86855e-05
|
|
|
ASAT
|
[NCBI]
|
5.86855e-05
|
|
|
SCA15
|
[NCBI]
|
5.46356e-05
|
|
|
branchial myoclonus with spastic paraparesis and cerebellar ataxia
|
[NCBI]
|
5.46356e-05
|
|
|
PMPCB
|
[NCBI]
|
5.36533e-05
|
|
|
TTBK2
|
[NCBI]
|
5.36533e-05
|
|
|
KCNMA1
|
[NCBI]
|
5.36533e-05
|
|
|
KCNC3
|
[NCBI]
|
5.36533e-05
|
|
|
MTTS2
|
[NCBI]
|
5.36533e-05
|
|
|
basal ganglia disease, adult-onset
|
[NCBI]
|
5.14177e-05
|
|
|
GRID2
|
[NCBI]
|
5.02821e-05
|
|
|
GRM1
|
[NCBI]
|
5.02821e-05
|
|
|
MLLT3
|
[NCBI]
|
5.02821e-05
|
|
|
hypotension, orthostatic
|
[NCBI]
|
4.87494e-05
|
|
|
CACNB4
|
[NCBI]
|
4.7777e-05
|
|
|
GLO1
|
[NCBI]
|
4.7777e-05
|
|
|
MTTW
|
[NCBI]
|
4.7777e-05
|
|
|
TH
|
[NCBI]
|
4.70527e-05
|
|
|
mitochondrial myopathy with diabetes
|
[NCBI]
|
4.64719e-05
|
|
|
CMRD
|
[NCBI]
|
4.64719e-05
|
|
|
AT
|
[NCBI]
|
4.47347e-05
|
|
|
SIL1
|
[NCBI]
|
4.41241e-05
|
|
|
DFNA9
|
[NCBI]
|
4.27276e-05
|
|
|
PRND
|
[NCBI]
|
4.27058e-05
|
|
|
SACS
|
[NCBI]
|
4.14666e-05
|
|
|
SETX
|
[NCBI]
|
4.03664e-05
|
|
|
CYP27A1
|
[NCBI]
|
4.03664e-05
|
|
|
XPF
|
[NCBI]
|
3.97204e-05
|
|
|
KCNA1
|
[NCBI]
|
3.93774e-05
|
|
|
MERRF
|
[NCBI]
|
3.84141e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive
|
[NCBI]
|
3.84141e-05
|
|
|
congenital cataracts, facial dysmorphism, and neuropathy
|
[NCBI]
|
3.84141e-05
|
|
|
HHS
|
[NCBI]
|
3.72121e-05
|
|
|
gm1-gangliosidosis, type ii
|
[NCBI]
|
3.72121e-05
|
|
|
SACS
|
[NCBI]
|
3.72121e-05
|
|
|
ATXN2
|
[NCBI]
|
3.68976e-05
|
|
|
DLD
|
[NCBI]
|
3.61936e-05
|
|
|
aceruloplasminemia
|
[NCBI]
|
3.5064e-05
|
|
|
PRKCG
|
[NCBI]
|
3.43435e-05
|
|
|
VLDLR
|
[NCBI]
|
3.43435e-05
|
|
|
INAD1
|
[NCBI]
|
3.31884e-05
|
|
|
MVK
|
[NCBI]
|
3.27902e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1
|
[NCBI]
|
3.23335e-05
|
|
|
VED
|
[NCBI]
|
3.23335e-05
|
|
|
alexander disease
|
[NCBI]
|
3.15261e-05
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
3.07614e-05
|
|
|
ATXN8OS
|
[NCBI]
|
3.06535e-05
|
|
|
HSAN1
|
[NCBI]
|
2.93444e-05
|
|
|
SLSN1
|
[NCBI]
|
2.93444e-05
|
|
|
AQP4
|
[NCBI]
|
2.79939e-05
|
|
|
biotinidase deficiency
|
[NCBI]
|
2.63217e-05
|
|
|
EBR1
|
[NCBI]
|
2.52759e-05
|
|
|
HMI
|
[NCBI]
|
2.503e-05
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
2.47816e-05
|
|
|
KSS
|
[NCBI]
|
2.42026e-05
|
|
|
PARK2
|
[NCBI]
|
2.38443e-05
|
|
|
FXN
|
[NCBI]
|
2.38385e-05
|
|
|
ELN
|
[NCBI]
|
2.24563e-05
|
|
|
RNASE2
|
[NCBI]
|
2.21409e-05
|
|
|
STAT1
|
[NCBI]
|
2.19873e-05
|
|
|
SPG3A
|
[NCBI]
|
2.10052e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
1.96261e-05
|
|
|
sandhoff disease
|
[NCBI]
|
1.96261e-05
|
|
|
MTTL1
|
[NCBI]
|
1.9591e-05
|
|
|
BDNF
|
[NCBI]
|
1.86541e-05
|
|
|
PG
|
[NCBI]
|
1.80902e-05
|
|
|
ADHD
|
[NCBI]
|
1.78085e-05
|
|
|
CJD
|
[NCBI]
|
1.67412e-05
|
|
|
myoclonic epilepsy of unverricht and lundborg
|
[NCBI]
|
1.67334e-05
|
|
|
ABL
|
[NCBI]
|
1.50633e-05
|
|
|
HD
|
[NCBI]
|
1.46578e-05
|
|
|
NPC1
|
[NCBI]
|
1.23355e-05
|
|
|
SVAS
|
[NCBI]
|
1.10516e-05
|
|
|
PD
|
[NCBI]
|
8.77908e-06
|
|
|
SHH
|
[NCBI]
|
7.26213e-06
|
|
|
RP
|
[NCBI]
|
4.56295e-06
|
|
|
EIG
|
[NCBI]
|
4.2082e-06
|
|
|
CRH
|
[NCBI]
|
4.13755e-06
|
|
|
APOB
|
[NCBI]
|
3.45356e-06
|
|
|
CHAT
|
[NCBI]
|
2.78577e-06
|
|
|
WBS
|
[NCBI]
|
2.1805e-06
|
|
|
CHS
|
[NCBI]
|
2.11049e-06
|
|
|
RNASE3
|
[NCBI]
|
1.26433e-06
|
|
|
AFP
|
[NCBI]
|
1.21939e-06
|
|
|
GFAP
|
[NCBI]
|
8.43455e-07
|
|
|
ALD
|
[NCBI]
|
3.33092e-07
|
|
|
CD
|
[NCBI]
|
2.83816e-08
|
|
|
MBP
|
[NCBI]
|
2.19755e-08
|
|