|
OMIM |
Link |
Information gain |
01 |
|
SPG23
|
[NCBI]
|
0.00426738
|
|
|
SPG5A
|
[NCBI]
|
0.00202899
|
|
|
SPS
|
[NCBI]
|
0.00115742
|
|
|
mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration
|
[NCBI]
|
0.00096756
|
|
|
ataxia, spastic, with congenital miosis
|
[NCBI]
|
0.00096756
|
|
|
amyotrophic lateral sclerosis, juvenile, with dementia
|
[NCBI]
|
0.00096756
|
|
|
CSE
|
[NCBI]
|
0.000667984
|
|
|
mental retardation with optic atrophy, deafness, and seizures
|
[NCBI]
|
0.000667984
|
|
|
SACS
|
[NCBI]
|
0.000615172
|
|
|
saccharopinuria
|
[NCBI]
|
0.000614885
|
|
|
microcephaly with chorioretinopathy, autosomal recessive
|
[NCBI]
|
0.000575485
|
|
|
ALD
|
[NCBI]
|
0.000561409
|
|
|
hereditary motor and sensory neuropathy v
|
[NCBI]
|
0.000518153
|
|
|
oculocerebral syndrome with hypopigmentation
|
[NCBI]
|
0.000495941
|
|
|
SPG3A
|
[NCBI]
|
0.000472239
|
|
|
SLS
|
[NCBI]
|
0.000461335
|
|
|
lymphedema, microcephaly, chorioretinopathy syndrome
|
[NCBI]
|
0.000384327
|
|
|
SPG2
|
[NCBI]
|
0.000274907
|
|
|
microcephaly with spastic quadriplegia
|
[NCBI]
|
0.000244322
|
|
|
spastic paresis, glaucoma, and mental retardation
|
[NCBI]
|
0.000219856
|
|
|
RA
|
[NCBI]
|
0.000219715
|
|
|
SACS
|
[NCBI]
|
0.000206037
|
|
|
limb defects, distal transverse, with mental retardation and spasticity
|
[NCBI]
|
0.000188919
|
|
|
SPG20
|
[NCBI]
|
0.000174947
|
|
|
HAM
|
[NCBI]
|
0.000138884
|
|
|
argininemia
|
[NCBI]
|
0.000110086
|
|
|
kallmann syndrome with spastic paraplegia
|
[NCBI]
|
0.000109848
|
|
|
spastic paraparesis and deafness
|
[NCBI]
|
0.000109848
|
|
|
mental retardation with spastic paraplegia and palmoplantar hyperkeratosis
|
[NCBI]
|
0.000109848
|
|
|
spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy
|
[NCBI]
|
0.000109848
|
|
|
spastic paraplegia, optic atrophy, and dementia
|
[NCBI]
|
0.000109848
|
|
|
megalencephaly with dysmyelination
|
[NCBI]
|
0.000109848
|
|
|
spastic paraplegia with precocious puberty
|
[NCBI]
|
0.000109848
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
9.71348e-05
|
|
|
SPG4
|
[NCBI]
|
9.61849e-05
|
|
|
ODDD
|
[NCBI]
|
9.5263e-05
|
|
|
hypomyelination and congenital cataract
|
[NCBI]
|
8.73936e-05
|
|
|
myokymia with neonatal epilepsy
|
[NCBI]
|
8.73936e-05
|
|
|
epilepsy, myoclonic, x-linked, with mental retardation and spasticity
|
[NCBI]
|
8.73936e-05
|
|
|
ABCD1
|
[NCBI]
|
8.6157e-05
|
|
|
leber optic atrophy
|
[NCBI]
|
8.4384e-05
|
|
|
fitzsimmons-guilbert syndrome
|
[NCBI]
|
7.89299e-05
|
|
|
schizencephaly
|
[NCBI]
|
7.89299e-05
|
|
|
paine syndrome
|
[NCBI]
|
7.89299e-05
|
|
|
oculocerebral hypopigmentation syndrome of preus
|
[NCBI]
|
7.89299e-05
|
|
|
keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy
|
[NCBI]
|
7.89299e-05
|
|
|
neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
|
[NCBI]
|
7.34399e-05
|
|
|
satoyoshi syndrome
|
[NCBI]
|
7.34399e-05
|
|
|
LBSL
|
[NCBI]
|
7.34399e-05
|
|
|
branchial myoclonus with spastic paraparesis and cerebellar ataxia
|
[NCBI]
|
6.93624e-05
|
|
|
homocarnosinosis
|
[NCBI]
|
6.93624e-05
|
|
|
GLRB
|
[NCBI]
|
6.82202e-05
|
|
|
syndactyly, type iii
|
[NCBI]
|
6.61167e-05
|
|
|
SPG20
|
[NCBI]
|
6.48439e-05
|
|
|
cerebral palsy, spastic, symmetric, autosomal recessive
|
[NCBI]
|
5.91021e-05
|
|
|
SLC17A7
|
[NCBI]
|
5.7247e-05
|
|
|
SPG6
|
[NCBI]
|
5.57103e-05
|
|
|
SPG17
|
[NCBI]
|
5.57103e-05
|
|
|
MRXS13
|
[NCBI]
|
5.4253e-05
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
5.29189e-05
|
|
|
SLC16A2
|
[NCBI]
|
5.1408e-05
|
|
|
GLUD1
|
[NCBI]
|
5.1408e-05
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
4.84901e-05
|
|
|
AHDS
|
[NCBI]
|
4.75544e-05
|
|
|
glutaric acidemia i
|
[NCBI]
|
4.66718e-05
|
|
|
MCPH1
|
[NCBI]
|
4.66718e-05
|
|
|
TBP
|
[NCBI]
|
4.63421e-05
|
|
|
masa syndrome
|
[NCBI]
|
4.50442e-05
|
|
|
DYT1
|
[NCBI]
|
4.43546e-05
|
|
|
SCA17
|
[NCBI]
|
4.42903e-05
|
|
|
ARX
|
[NCBI]
|
4.4001e-05
|
|
|
hyperekplexia, hereditary
|
[NCBI]
|
4.35717e-05
|
|
|
ALDH3A2
|
[NCBI]
|
4.18281e-05
|
|
|
MLC
|
[NCBI]
|
4.15976e-05
|
|
|
MRXHF1
|
[NCBI]
|
4.15976e-05
|
|
|
ASPA
|
[NCBI]
|
4.15534e-05
|
|
|
L1CAM
|
[NCBI]
|
4.12862e-05
|
|
|
hyperglycerolemia
|
[NCBI]
|
4.04103e-05
|
|
|
factor x deficiency
|
[NCBI]
|
3.98198e-05
|
|
|
HSAS
|
[NCBI]
|
3.82823e-05
|
|
|
MTND4
|
[NCBI]
|
3.75953e-05
|
|
|
FAAH
|
[NCBI]
|
3.70671e-05
|
|
|
sandhoff disease
|
[NCBI]
|
3.32706e-05
|
|
|
HPRT1
|
[NCBI]
|
3.12934e-05
|
|
|
CMT1B
|
[NCBI]
|
2.92712e-05
|
|
|
MECP2
|
[NCBI]
|
2.91803e-05
|
|
|
SCA1
|
[NCBI]
|
2.08894e-05
|
|
|
ZS
|
[NCBI]
|
1.82888e-05
|
|
|
krabbe disease
|
[NCBI]
|
1.79422e-05
|
|
|
PMD
|
[NCBI]
|
1.68545e-05
|
|
|
CHAT
|
[NCBI]
|
1.4113e-05
|
|
|
ADA
|
[NCBI]
|
1.18926e-05
|
|
|
RTT
|
[NCBI]
|
8.70705e-06
|
|
|
MJD
|
[NCBI]
|
8.25711e-06
|
|
|
AS
|
[NCBI]
|
5.72239e-06
|
|
|
CJD
|
[NCBI]
|
4.96309e-07
|
|