|
OMIM |
Link |
Information gain |
01 |
|
myoclonic dystonia
|
[NCBI]
|
0.00266059
|
|
|
epilepsy, myoclonic, benign adult familial, type 1
|
[NCBI]
|
0.00182671
|
|
|
DYT15
|
[NCBI]
|
0.00164346
|
|
|
GSM1
|
[NCBI]
|
0.00141524
|
|
|
SGCE
|
[NCBI]
|
0.00108093
|
|
|
neuraminidase deficiency
|
[NCBI]
|
0.00107945
|
|
|
myoclonic epilepsy, hartung type
|
[NCBI]
|
0.00096756
|
|
|
AMRF
|
[NCBI]
|
0.000749926
|
|
|
SCAR4
|
[NCBI]
|
0.000749926
|
|
|
split-hand/foot malformation with sensorineural hearing loss
|
[NCBI]
|
0.000667984
|
|
|
SPS
|
[NCBI]
|
0.000637992
|
|
|
carnosinemia
|
[NCBI]
|
0.000575485
|
|
|
methylmalonic aciduria and homocystinuria, cbld type
|
[NCBI]
|
0.000575485
|
|
|
branchial myoclonus with spastic paraparesis and cerebellar ataxia
|
[NCBI]
|
0.00052703
|
|
|
pelizaeus-merzbacher-like disease, autosomal recessive, 2
|
[NCBI]
|
0.000518153
|
|
|
CLN4B
|
[NCBI]
|
0.000518153
|
|
|
CJD
|
[NCBI]
|
0.000486059
|
|
|
myoclonic epilepsy of unverricht and lundborg
|
[NCBI]
|
0.000478593
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
0.000322703
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.000303582
|
|
|
restless legs syndrome, susceptibility to, 1
|
[NCBI]
|
0.000287699
|
|
|
PPR
|
[NCBI]
|
0.000227968
|
|
|
faciomandibular myoclonus, nocturnal
|
[NCBI]
|
0.000210449
|
|
|
myoclonus, cerebellar ataxia, and deafness
|
[NCBI]
|
0.000210449
|
|
|
SLE
|
[NCBI]
|
0.000178171
|
|
|
myoclonic epilepsy of lafora
|
[NCBI]
|
0.000153616
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
0.000143494
|
|
|
DRPLA
|
[NCBI]
|
0.000124283
|
|
|
GLRA1
|
[NCBI]
|
0.000107502
|
|
|
alexander disease
|
[NCBI]
|
0.000105493
|
|
|
photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction
|
[NCBI]
|
0.000105164
|
|
|
myoclonus, hereditary, with progressive distal muscular atrophy
|
[NCBI]
|
0.000105164
|
|
|
ataxia with myoclonic epilepsy and presenile dementia
|
[NCBI]
|
0.000105164
|
|
|
reese retinal dysplasia
|
[NCBI]
|
0.000105164
|
|
|
CLN1
|
[NCBI]
|
9.67353e-05
|
|
|
CASD1
|
[NCBI]
|
8.35435e-05
|
|
|
myoclonic epilepsy, progressive
|
[NCBI]
|
8.27163e-05
|
|
|
convulsive disorder, familial, with prenatal or early onset
|
[NCBI]
|
8.27163e-05
|
|
|
encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia
|
[NCBI]
|
8.27163e-05
|
|
|
MAFG
|
[NCBI]
|
6.9765e-05
|
|
|
spastic ataxia
|
[NCBI]
|
6.87751e-05
|
|
|
lactose intolerance, congenital
|
[NCBI]
|
6.47037e-05
|
|
|
MAFK
|
[NCBI]
|
6.45657e-05
|
|
|
myoclonus and ataxia
|
[NCBI]
|
6.14642e-05
|
|
|
NOVA1
|
[NCBI]
|
6.11901e-05
|
|
|
APBD
|
[NCBI]
|
5.64753e-05
|
|
|
MTTF
|
[NCBI]
|
5.50187e-05
|
|
|
encephalopathy, neonatal severe, due to mecp2 mutations
|
[NCBI]
|
4.96377e-05
|
|
|
myoclonic epilepsy, neonatal, with suppression-burst pattern
|
[NCBI]
|
4.70863e-05
|
|
|
gm1-gangliosidosis, type ii
|
[NCBI]
|
4.70863e-05
|
|
|
MTTS1
|
[NCBI]
|
4.51891e-05
|
|
|
MTS
|
[NCBI]
|
4.48951e-05
|
|
|
EA1
|
[NCBI]
|
4.48951e-05
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
4.39059e-05
|
|
|
DRPLA
|
[NCBI]
|
4.36225e-05
|
|
|
PLOSL
|
[NCBI]
|
4.1271e-05
|
|
|
DYT1
|
[NCBI]
|
4.07172e-05
|
|
|
MTND1
|
[NCBI]
|
4.07172e-05
|
|
|
GCH1
|
[NCBI]
|
4.07172e-05
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
4.04847e-05
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
4.04847e-05
|
|
|
CLN2
|
[NCBI]
|
3.97371e-05
|
|
|
DRD2
|
[NCBI]
|
3.84781e-05
|
|
|
POLG
|
[NCBI]
|
3.73963e-05
|
|
|
GCE
|
[NCBI]
|
3.58943e-05
|
|
|
CLN3
|
[NCBI]
|
2.6314e-05
|
|
|
MECP2
|
[NCBI]
|
2.56122e-05
|
|
|
HNPP
|
[NCBI]
|
2.54701e-05
|
|
|
PSEN1
|
[NCBI]
|
2.45476e-05
|
|
|
HHF2
|
[NCBI]
|
2.41702e-05
|
|
|
ND
|
[NCBI]
|
2.23222e-05
|
|
|
PRNP
|
[NCBI]
|
2.13004e-05
|
|
|
AS
|
[NCBI]
|
2.06118e-05
|
|
|
FFI
|
[NCBI]
|
1.56382e-05
|
|
|
FRDA
|
[NCBI]
|
1.4682e-05
|
|
|
EIG
|
[NCBI]
|
1.10423e-05
|
|
|
leber optic atrophy
|
[NCBI]
|
8.84232e-06
|
|
|
MG
|
[NCBI]
|
8.36001e-06
|
|
|
AD
|
[NCBI]
|
7.37855e-06
|
|
|
RTT
|
[NCBI]
|
5.57608e-06
|
|
|
ACHE
|
[NCBI]
|
5.26212e-06
|
|
|
CRH
|
[NCBI]
|
4.45558e-06
|
|
|
GFAP
|
[NCBI]
|
2.02163e-06
|
|
|
GTS
|
[NCBI]
|
1.5512e-06
|
|