|
OMIM |
Link |
Information gain |
01 |
|
PPR
|
[NCBI]
|
0.00790877
|
|
|
kohlschutter-tonz syndrome
|
[NCBI]
|
0.00366862
|
|
|
TS
|
[NCBI]
|
0.00234786
|
|
|
centralopathic epilepsy
|
[NCBI]
|
0.0022899
|
|
|
EKD1
|
[NCBI]
|
0.00209658
|
|
|
MEHMO
|
[NCBI]
|
0.00182649
|
|
|
EFMR
|
[NCBI]
|
0.0016526
|
|
|
convulsions, benign familial infantile, 1
|
[NCBI]
|
0.00143315
|
|
|
EIG
|
[NCBI]
|
0.00127535
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
0.00121832
|
|
|
electroencephalogram, low-voltage
|
[NCBI]
|
0.001152
|
|
|
epilepsy, myoclonic, benign adult familial, type 1
|
[NCBI]
|
0.00108981
|
|
|
FEB1
|
[NCBI]
|
0.00108981
|
|
|
RA
|
[NCBI]
|
0.00106676
|
|
|
LKS
|
[NCBI]
|
0.00105094
|
|
|
ECA1
|
[NCBI]
|
0.000799994
|
|
|
heterotopia, periventricular, x-linked dominant
|
[NCBI]
|
0.000781549
|
|
|
AS
|
[NCBI]
|
0.000728414
|
|
|
myoclonic epilepsy, hartung type
|
[NCBI]
|
0.000724485
|
|
|
angiomatosis, diffuse corticomeningeal, of divry and van bogaert
|
[NCBI]
|
0.000724485
|
|
|
urate-binding globulin, decrease in
|
[NCBI]
|
0.000724485
|
|
|
FEB7
|
[NCBI]
|
0.000724485
|
|
|
crome syndrome
|
[NCBI]
|
0.000724485
|
|
|
generalized epilepsy with febrile seizures plus, type 4
|
[NCBI]
|
0.000724485
|
|
|
EIG3
|
[NCBI]
|
0.000724485
|
|
|
AABT
|
[NCBI]
|
0.000724485
|
|
|
myoclonic epilepsy, juvenile, 3
|
[NCBI]
|
0.000711989
|
|
|
EBN1
|
[NCBI]
|
0.00055353
|
|
|
convulsions, benign familial infantile, 2
|
[NCBI]
|
0.000508093
|
|
|
schinzel-giedion midface-retraction syndrome
|
[NCBI]
|
0.000505827
|
|
|
BDNF
|
[NCBI]
|
0.000477418
|
|
|
FCDT
|
[NCBI]
|
0.000450281
|
|
|
mental retardation with optic atrophy, deafness, and seizures
|
[NCBI]
|
0.000427393
|
|
|
SPG19
|
[NCBI]
|
0.000427393
|
|
|
cerebellar atrophy with progressive microcephaly
|
[NCBI]
|
0.000427393
|
|
|
EJM2
|
[NCBI]
|
0.000427393
|
|
|
LISX1
|
[NCBI]
|
0.000414257
|
|
|
NPY
|
[NCBI]
|
0.000411266
|
|
|
ICCA
|
[NCBI]
|
0.000375536
|
|
|
woolly hair, autosomal dominant
|
[NCBI]
|
0.000375536
|
|
|
AIC
|
[NCBI]
|
0.000368566
|
|
|
epilepsy, nocturnal frontal lobe, type 2
|
[NCBI]
|
0.000337377
|
|
|
microcephaly with chorioretinopathy, autosomal recessive
|
[NCBI]
|
0.000337377
|
|
|
SPG12
|
[NCBI]
|
0.000337377
|
|
|
SMEI
|
[NCBI]
|
0.000309132
|
|
|
IOSCA
|
[NCBI]
|
0.000307287
|
|
|
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
|
[NCBI]
|
0.000286789
|
|
|
d-glyceric acidemia
|
[NCBI]
|
0.000282528
|
|
|
valproate embryopathy, susceptibility to
|
[NCBI]
|
0.000271281
|
|
|
oculocerebral syndrome with hypopigmentation
|
[NCBI]
|
0.000261559
|
|
|
hennekam lymphangiectasia-lymphedema syndrome
|
[NCBI]
|
0.000261559
|
|
|
kifafa seizure disorder
|
[NCBI]
|
0.000261353
|
|
|
KCNQ2
|
[NCBI]
|
0.000259194
|
|
|
FLNA
|
[NCBI]
|
0.000241632
|
|
|
BPP
|
[NCBI]
|
0.000239898
|
|
|
mental retardation with epilepsy and characteristic facies
|
[NCBI]
|
0.000224964
|
|
|
epilepsy, reading
|
[NCBI]
|
0.000224964
|
|
|
DCX
|
[NCBI]
|
0.00021852
|
|
|
EPD
|
[NCBI]
|
0.000203594
|
|
|
ETL2
|
[NCBI]
|
0.000200562
|
|
|
infantile spasm syndrome, x-linked
|
[NCBI]
|
0.000199167
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
0.000199167
|
|
|
DRPLA
|
[NCBI]
|
0.000198757
|
|
|
SCA10
|
[NCBI]
|
0.000184065
|
|
|
schimmelpenning-feuerstein-mims syndrome
|
[NCBI]
|
0.000178477
|
|
|
electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon
|
[NCBI]
|
0.000174196
|
|
|
XMRE
|
[NCBI]
|
0.000174196
|
|
|
epilepsy with bilateral occipital calcifications
|
[NCBI]
|
0.000174196
|
|
|
epileptic encephalopathy, lennox-gastaut type
|
[NCBI]
|
0.000174196
|
|
|
myoclonic epilepsy of unverricht and lundborg
|
[NCBI]
|
0.000169395
|
|
|
CLN8
|
[NCBI]
|
0.000162853
|
|
|
SLE
|
[NCBI]
|
0.000162482
|
|
|
lymphedema, microcephaly, chorioretinopathy syndrome
|
[NCBI]
|
0.000159887
|
|
|
LGI1
|
[NCBI]
|
0.000156421
|
|
|
myoclonic epilepsy of lafora
|
[NCBI]
|
0.000153145
|
|
|
pyridoxamine 5-prime-phosphate oxidase deficiency
|
[NCBI]
|
0.000143316
|
|
|
alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism
|
[NCBI]
|
0.000143316
|
|
|
ADLTE
|
[NCBI]
|
0.000140576
|
|
|
SCN1B
|
[NCBI]
|
0.000138269
|
|
|
KCNQ3
|
[NCBI]
|
0.000138269
|
|
|
CLN8
|
[NCBI]
|
0.000132115
|
|
|
pachygyria with mental retardation and seizures
|
[NCBI]
|
0.000129401
|
|
|
gurrieri syndrome
|
[NCBI]
|
0.000129401
|
|
|
GEFS+
|
[NCBI]
|
0.000128215
|
|
|
BFLS
|
[NCBI]
|
0.000125581
|
|
|
GABRG2
|
[NCBI]
|
0.000122737
|
|
|
PRL
|
[NCBI]
|
0.00011398
|
|
|
ramon syndrome
|
[NCBI]
|
0.000112587
|
|
|
MLC
|
[NCBI]
|
0.000112348
|
|
|
CHRNA4
|
[NCBI]
|
0.00010997
|
|
|
GFAP
|
[NCBI]
|
0.000108156
|
|
|
ABCC1
|
[NCBI]
|
0.000102513
|
|
|
adenylosuccinase deficiency
|
[NCBI]
|
0.000101721
|
|
|
PNPO
|
[NCBI]
|
0.000100706
|
|
|
ATP6AP2
|
[NCBI]
|
0.000100706
|
|
|
IDH3G
|
[NCBI]
|
0.000100706
|
|
|
MAP1B
|
[NCBI]
|
9.75446e-05
|
|
|
migraine with or without aura, susceptibility to, 1
|
[NCBI]
|
9.73033e-05
|
|
|
coffin-siris syndrome
|
[NCBI]
|
9.28263e-05
|
|
|
SCN1A
|
[NCBI]
|
9.14896e-05
|
|
|
WHS
|
[NCBI]
|
8.90639e-05
|
|
|
VEGF
|
[NCBI]
|
8.82422e-05
|
|
|
retinal degeneration and epilepsy
|
[NCBI]
|
8.70784e-05
|
|
|
epilepsy, x-linked, with variable learning disabilities and behavior disorders
|
[NCBI]
|
8.70784e-05
|
|
|
mental retardation, microcephaly, epilepsy, and coarse face
|
[NCBI]
|
8.70784e-05
|
|
|
hyperekplexia and epilepsy
|
[NCBI]
|
8.70784e-05
|
|
|
PMSE
|
[NCBI]
|
8.70784e-05
|
|
|
ataxia with myoclonic epilepsy and presenile dementia
|
[NCBI]
|
8.70784e-05
|
|
|
necrotizing encephalomyelopathy, subacute, of leigh, adult
|
[NCBI]
|
8.70784e-05
|
|
|
epilepsy-telangiectasia
|
[NCBI]
|
8.70784e-05
|
|
|
photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction
|
[NCBI]
|
8.70784e-05
|
|
|
epilepsy, nocturnal frontal lobe, type 4
|
[NCBI]
|
8.70784e-05
|
|
|
epilepsy, photogenic, with spastic diplegia and mental retardation
|
[NCBI]
|
8.70784e-05
|
|
|
ATXN10
|
[NCBI]
|
8.62858e-05
|
|
|
ITPR1
|
[NCBI]
|
8.62858e-05
|
|
|
SHBG
|
[NCBI]
|
8.61464e-05
|
|
|
ARX
|
[NCBI]
|
8.42844e-05
|
|
|
PNDM
|
[NCBI]
|
8.20234e-05
|
|
|
ME2
|
[NCBI]
|
8.17966e-05
|
|
|
FRNS
|
[NCBI]
|
8.06785e-05
|
|
|
DPYD
|
[NCBI]
|
8.03273e-05
|
|
|
JME
|
[NCBI]
|
7.96915e-05
|
|
|
pitt syndrome
|
[NCBI]
|
7.75263e-05
|
|
|
ABCG2
|
[NCBI]
|
7.51822e-05
|
|
|
FHM2
|
[NCBI]
|
7.18336e-05
|
|
|
AD
|
[NCBI]
|
6.9155e-05
|
|
|
amish infantile epilepsy syndrome
|
[NCBI]
|
6.46812e-05
|
|
|
fibromatosis, gingival, with hypertrichosis and mental retardation
|
[NCBI]
|
6.46812e-05
|
|
|
epilepsy, myoclonic, x-linked, with mental retardation and spasticity
|
[NCBI]
|
6.46812e-05
|
|
|
myoclonic epilepsy, progressive
|
[NCBI]
|
6.46812e-05
|
|
|
epilepsy, childhood absence, 2
|
[NCBI]
|
6.46812e-05
|
|
|
RELN
|
[NCBI]
|
6.4449e-05
|
|
|
ATP1A2
|
[NCBI]
|
6.28783e-05
|
|
|
GRIA2
|
[NCBI]
|
6.28783e-05
|
|
|
KCNK2
|
[NCBI]
|
5.98182e-05
|
|
|
C5ORF13
|
[NCBI]
|
5.98182e-05
|
|
|
DBP
|
[NCBI]
|
5.98182e-05
|
|
|
FBXL16
|
[NCBI]
|
5.98182e-05
|
|
|
DLGAP2
|
[NCBI]
|
5.98182e-05
|
|
|
DLX1
|
[NCBI]
|
5.98182e-05
|
|
|
OTX1
|
[NCBI]
|
5.98182e-05
|
|
|
CHRNA2
|
[NCBI]
|
5.98182e-05
|
|
|
mental retardation, x-linked, south african type
|
[NCBI]
|
5.98182e-05
|
|
|
ARHGEF9
|
[NCBI]
|
5.98182e-05
|
|
|
SLC2A1
|
[NCBI]
|
5.88159e-05
|
|
|
TNF
|
[NCBI]
|
5.83118e-05
|
|
|
RTT
|
[NCBI]
|
5.6534e-05
|
|
|
ichthyosis and male hypogonadism
|
[NCBI]
|
5.62744e-05
|
|
|
FEB4
|
[NCBI]
|
5.62744e-05
|
|
|
paine syndrome
|
[NCBI]
|
5.62744e-05
|
|
|
band heterotopia of brain
|
[NCBI]
|
5.62744e-05
|
|
|
GEPD
|
[NCBI]
|
5.62744e-05
|
|
|
aminoacylase 1 deficiency
|
[NCBI]
|
5.62744e-05
|
|
|
DRPLA
|
[NCBI]
|
5.44714e-05
|
|
|
PKS
|
[NCBI]
|
5.42216e-05
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
5.28327e-05
|
|
|
ABCB1
|
[NCBI]
|
5.08834e-05
|
|
|
PRTS
|
[NCBI]
|
5.08415e-05
|
|
|
carbimazole sensitivity
|
[NCBI]
|
5.08415e-05
|
|
|
CLN7
|
[NCBI]
|
5.08415e-05
|
|
|
heterotopia, periventricular, ehlers-danlos variant
|
[NCBI]
|
5.08415e-05
|
|
|
alopecia-epilepsy-oligophrenia syndrome of moynahan
|
[NCBI]
|
5.08415e-05
|
|
|
EBN2
|
[NCBI]
|
5.08415e-05
|
|
|
KCNJ11
|
[NCBI]
|
4.93967e-05
|
|
|
EPHX1
|
[NCBI]
|
4.86702e-05
|
|
|
AOS
|
[NCBI]
|
4.8153e-05
|
|
|
homocarnosinosis
|
[NCBI]
|
4.68209e-05
|
|
|
PTHS
|
[NCBI]
|
4.68209e-05
|
|
|
LISX2
|
[NCBI]
|
4.68209e-05
|
|
|
paroxysmal extreme pain disorder
|
[NCBI]
|
4.68209e-05
|
|
|
schindler disease, type i
|
[NCBI]
|
4.68209e-05
|
|
|
CDG1D
|
[NCBI]
|
4.68209e-05
|
|
|
PTGFR
|
[NCBI]
|
4.60617e-05
|
|
|
ataxin 2-binding protein 1
|
[NCBI]
|
4.60617e-05
|
|
|
ST3GAL5
|
[NCBI]
|
4.60617e-05
|
|
|
FYN
|
[NCBI]
|
4.60617e-05
|
|
|
GABBR1
|
[NCBI]
|
4.60617e-05
|
|
|
MAP3K3
|
[NCBI]
|
4.60617e-05
|
|
|
MTATP8
|
[NCBI]
|
4.60617e-05
|
|
|
ste20-related adaptor protein
|
[NCBI]
|
4.60617e-05
|
|
|
GRINA
|
[NCBI]
|
4.60617e-05
|
|
|
CPI
|
[NCBI]
|
4.46319e-05
|
|
|
MG
|
[NCBI]
|
4.36819e-05
|
|
|
fibromatosis, gingival, with hypertrichosis
|
[NCBI]
|
4.36322e-05
|
|
|
JAE
|
[NCBI]
|
4.36322e-05
|
|
|
SPG13
|
[NCBI]
|
4.36322e-05
|
|
|
EJM1
|
[NCBI]
|
4.09932e-05
|
|
|
SANDO
|
[NCBI]
|
4.09932e-05
|
|
|
alternating hemiplegia of childhood
|
[NCBI]
|
4.09932e-05
|
|
|
TEF
|
[NCBI]
|
4.08844e-05
|
|
|
GABBR2
|
[NCBI]
|
4.08844e-05
|
|
|
ALDH7A1
|
[NCBI]
|
4.08844e-05
|
|
|
MAP1A
|
[NCBI]
|
4.08844e-05
|
|
|
NRTN
|
[NCBI]
|
4.08844e-05
|
|
|
GABRD
|
[NCBI]
|
4.08844e-05
|
|
|
TSC1
|
[NCBI]
|
4.02454e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
4.02454e-05
|
|
|
DBI
|
[NCBI]
|
3.98017e-05
|
|
|
APBD
|
[NCBI]
|
3.87449e-05
|
|
|
l-2-hydroxyglutaric aciduria
|
[NCBI]
|
3.87449e-05
|
|
|
microcephaly with spastic quadriplegia
|
[NCBI]
|
3.87449e-05
|
|
|
chondrodysplasia punctata, tibia-metacarpal type
|
[NCBI]
|
3.87449e-05
|
|
|
CHRNA7
|
[NCBI]
|
3.75308e-05
|
|
|
SYN1
|
[NCBI]
|
3.75308e-05
|
|
|
GRIK1
|
[NCBI]
|
3.75308e-05
|
|
|
BAK1
|
[NCBI]
|
3.75308e-05
|
|
|
MLLT3
|
[NCBI]
|
3.75308e-05
|
|
|
JRK
|
[NCBI]
|
3.75308e-05
|
|
|
osseous heteroplasia, progressive
|
[NCBI]
|
3.67887e-05
|
|
|
cerebral palsy, spastic, symmetric, autosomal recessive
|
[NCBI]
|
3.67887e-05
|
|
|
epilepsy, nocturnal frontal lobe, type 1
|
[NCBI]
|
3.67887e-05
|
|
|
SPG10
|
[NCBI]
|
3.67887e-05
|
|
|
PCNA
|
[NCBI]
|
3.59732e-05
|
|
|
proteus syndrome
|
[NCBI]
|
3.5879e-05
|
|
|
formiminotransferase deficiency
|
[NCBI]
|
3.50592e-05
|
|
|
ALG3
|
[NCBI]
|
3.50433e-05
|
|
|
CACNB4
|
[NCBI]
|
3.50433e-05
|
|
|
PDXK
|
[NCBI]
|
3.50433e-05
|
|
|
CLS
|
[NCBI]
|
3.41533e-05
|
|
|
SPG17
|
[NCBI]
|
3.35108e-05
|
|
|
SPG6
|
[NCBI]
|
3.35108e-05
|
|
|
TCF4
|
[NCBI]
|
3.30659e-05
|
|
|
HTR2C
|
[NCBI]
|
3.30659e-05
|
|
|
CLCN2
|
[NCBI]
|
3.30659e-05
|
|
|
GPR98
|
[NCBI]
|
3.30659e-05
|
|
|
oculocerebrocutaneous syndrome
|
[NCBI]
|
3.21105e-05
|
|
|
NEUROD1
|
[NCBI]
|
3.14255e-05
|
|
|
phosphoglycerate mutase, muscle, deficiency of
|
[NCBI]
|
3.14255e-05
|
|
|
ACY1
|
[NCBI]
|
3.14255e-05
|
|
|
CYP2C9
|
[NCBI]
|
3.14255e-05
|
|
|
MAPK10
|
[NCBI]
|
3.14255e-05
|
|
|
ACCPN
|
[NCBI]
|
3.08335e-05
|
|
|
renal cysts and diabetes syndrome
|
[NCBI]
|
3.08335e-05
|
|
|
3-@methylcrotonyl-coa carboxylase 1 deficiency
|
[NCBI]
|
3.08335e-05
|
|
|
behcet syndrome
|
[NCBI]
|
3.0775e-05
|
|
|
SPS
|
[NCBI]
|
3.0775e-05
|
|
|
PRPH
|
[NCBI]
|
3.00248e-05
|
|
|
NAGA
|
[NCBI]
|
3.00248e-05
|
|
|
SLC17A7
|
[NCBI]
|
3.00248e-05
|
|
|
ADK
|
[NCBI]
|
3.00248e-05
|
|
|
GRIA3
|
[NCBI]
|
3.00248e-05
|
|
|
gm1-gangliosidosis, type ii
|
[NCBI]
|
2.96607e-05
|
|
|
CD
|
[NCBI]
|
2.91579e-05
|
|
|
ADSL
|
[NCBI]
|
2.88031e-05
|
|
|
HSD17B4
|
[NCBI]
|
2.88031e-05
|
|
|
MC3R
|
[NCBI]
|
2.88031e-05
|
|
|
mowat-wilson syndrome
|
[NCBI]
|
2.85772e-05
|
|
|
PFM
|
[NCBI]
|
2.85772e-05
|
|
|
EPO
|
[NCBI]
|
2.82239e-05
|
|
|
SLC1A1
|
[NCBI]
|
2.77205e-05
|
|
|
MYO5A
|
[NCBI]
|
2.77205e-05
|
|
|
SPD1
|
[NCBI]
|
2.75711e-05
|
|
|
coenzyme q10 deficiency
|
[NCBI]
|
2.75711e-05
|
|
|
mannosidosis, beta a, lysosomal
|
[NCBI]
|
2.75711e-05
|
|
|
CNR1
|
[NCBI]
|
2.6749e-05
|
|
|
KCNA1
|
[NCBI]
|
2.6749e-05
|
|
|
DBH
|
[NCBI]
|
2.6749e-05
|
|
|
enchondromatosis, multiple
|
[NCBI]
|
2.66327e-05
|
|
|
OPD2
|
[NCBI]
|
2.66327e-05
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
2.66327e-05
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
2.66327e-05
|
|
|
succinic semialdehyde dehydrogenase deficiency
|
[NCBI]
|
2.66327e-05
|
|
|
GABRB3
|
[NCBI]
|
2.58683e-05
|
|
|
HLF
|
[NCBI]
|
2.58683e-05
|
|
|
AHDS
|
[NCBI]
|
2.5754e-05
|
|
|
MC2R
|
[NCBI]
|
2.50631e-05
|
|
|
CDPX1
|
[NCBI]
|
2.49284e-05
|
|
|
immunoosseous dysplasia, schimke type
|
[NCBI]
|
2.49284e-05
|
|
|
OFC1
|
[NCBI]
|
2.48608e-05
|
|
|
CCK
|
[NCBI]
|
2.46021e-05
|
|
|
PLOSL
|
[NCBI]
|
2.41502e-05
|
|
|
CDK5
|
[NCBI]
|
2.37144e-05
|
|
|
PRODH
|
[NCBI]
|
2.36355e-05
|
|
|
ZEB2
|
[NCBI]
|
2.36355e-05
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
2.34147e-05
|
|
|
SPG2
|
[NCBI]
|
2.34147e-05
|
|
|
AGS1
|
[NCBI]
|
2.34147e-05
|
|
|
SCA17
|
[NCBI]
|
2.27179e-05
|
|
|
NTRK2
|
[NCBI]
|
2.2399e-05
|
|
|
argininemia
|
[NCBI]
|
2.20563e-05
|
|
|
GAD2
|
[NCBI]
|
2.18381e-05
|
|
|
HNMT
|
[NCBI]
|
2.18381e-05
|
|
|
isoniazid inactivation
|
[NCBI]
|
2.13098e-05
|
|
|
canavan disease
|
[NCBI]
|
2.08264e-05
|
|
|
PENK
|
[NCBI]
|
2.08105e-05
|
|
|
MAOB
|
[NCBI]
|
2.08105e-05
|
|
|
PDYN
|
[NCBI]
|
2.08105e-05
|
|
|
MTCYB
|
[NCBI]
|
2.08105e-05
|
|
|
MAP2
|
[NCBI]
|
2.05649e-05
|
|
|
PAFAH1B1
|
[NCBI]
|
2.03375e-05
|
|
|
PHA
|
[NCBI]
|
2.02533e-05
|
|
|
MRXHF1
|
[NCBI]
|
2.02533e-05
|
|
|
GALP
|
[NCBI]
|
1.98882e-05
|
|
|
MELAS
|
[NCBI]
|
1.9705e-05
|
|
|
HNF1B
|
[NCBI]
|
1.94604e-05
|
|
|
TBP
|
[NCBI]
|
1.94604e-05
|
|
|
MHA
|
[NCBI]
|
1.91799e-05
|
|
|
FOXO1A
|
[NCBI]
|
1.86622e-05
|
|
|
phenylketonuria ii
|
[NCBI]
|
1.86622e-05
|
|
|
SLC1A2
|
[NCBI]
|
1.82886e-05
|
|
|
ALPL
|
[NCBI]
|
1.82886e-05
|
|
|
citrullinemia, classic
|
[NCBI]
|
1.81926e-05
|
|
|
ZS
|
[NCBI]
|
1.81848e-05
|
|
|
TH
|
[NCBI]
|
1.78757e-05
|
|
|
gaucher disease, type iii
|
[NCBI]
|
1.77276e-05
|
|
|
FHM1
|
[NCBI]
|
1.728e-05
|
|
|
PPOX
|
[NCBI]
|
1.72555e-05
|
|
|
PNKD1
|
[NCBI]
|
1.68488e-05
|
|
|
GAMT
|
[NCBI]
|
1.63331e-05
|
|
|
SPG4
|
[NCBI]
|
1.60315e-05
|
|
|
GJA1
|
[NCBI]
|
1.58205e-05
|
|
|
APOD
|
[NCBI]
|
1.57696e-05
|
|
|
AQP4
|
[NCBI]
|
1.57696e-05
|
|
|
FIH
|
[NCBI]
|
1.52688e-05
|
|
|
CDPX2
|
[NCBI]
|
1.52688e-05
|
|
|
myoclonic dystonia
|
[NCBI]
|
1.52688e-05
|
|
|
HSCR1
|
[NCBI]
|
1.5136e-05
|
|
|
ASPA
|
[NCBI]
|
1.49896e-05
|
|
|
CADASIL
|
[NCBI]
|
1.4906e-05
|
|
|
POLG
|
[NCBI]
|
1.45077e-05
|
|
|
coproporphyria
|
[NCBI]
|
1.45077e-05
|
|
|
ATRX
|
[NCBI]
|
1.4277e-05
|
|
|
SPG3A
|
[NCBI]
|
1.42146e-05
|
|
|
NGFB
|
[NCBI]
|
1.41772e-05
|
|
|
FRAP1
|
[NCBI]
|
1.39472e-05
|
|
|
CRH
|
[NCBI]
|
1.33867e-05
|
|
|
MC1R
|
[NCBI]
|
1.30165e-05
|
|
|
HMI
|
[NCBI]
|
1.30165e-05
|
|
|
MC4R
|
[NCBI]
|
1.30165e-05
|
|
|
PRNP
|
[NCBI]
|
1.2958e-05
|
|
|
PHS
|
[NCBI]
|
1.29526e-05
|
|
|
GCPS
|
[NCBI]
|
1.26595e-05
|
|
|
CLU
|
[NCBI]
|
1.26373e-05
|
|
|
FXN
|
[NCBI]
|
1.19304e-05
|
|
|
CLN3
|
[NCBI]
|
1.08193e-05
|
|
|
MAP3K5
|
[NCBI]
|
1.06887e-05
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
1.0583e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
1.0583e-05
|
|
|
APOE
|
[NCBI]
|
1.03326e-05
|
|
|
PDS
|
[NCBI]
|
1.01278e-05
|
|
|
PD
|
[NCBI]
|
9.61522e-06
|
|
|
HHF2
|
[NCBI]
|
9.08212e-06
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
9.08212e-06
|
|
|
CJD
|
[NCBI]
|
8.63208e-06
|
|
|
MTTL1
|
[NCBI]
|
8.19238e-06
|
|
|
AR
|
[NCBI]
|
8.16103e-06
|
|
|
GJB1
|
[NCBI]
|
7.80719e-06
|
|
|
SLC6A4
|
[NCBI]
|
7.62309e-06
|
|
|
AMC
|
[NCBI]
|
7.4778e-06
|
|
|
LQT1
|
[NCBI]
|
7.31832e-06
|
|
|
PTH
|
[NCBI]
|
7.19602e-06
|
|
|
CHH
|
[NCBI]
|
7.00933e-06
|
|
|
NPC1
|
[NCBI]
|
6.56943e-06
|
|
|
SLS
|
[NCBI]
|
5.76658e-06
|
|
|
MAPT
|
[NCBI]
|
5.70494e-06
|
|
|
PKD1
|
[NCBI]
|
5.45148e-06
|
|
|
CHAT
|
[NCBI]
|
5.40496e-06
|
|
|
SST
|
[NCBI]
|
5.20995e-06
|
|
|
HDC
|
[NCBI]
|
4.81367e-06
|
|
|
VIP
|
[NCBI]
|
4.77397e-06
|
|
|
GTS
|
[NCBI]
|
4.23701e-06
|
|
|
NS1
|
[NCBI]
|
3.9438e-06
|
|
|
RNASE3
|
[NCBI]
|
3.52044e-06
|
|
|
ADA
|
[NCBI]
|
2.974e-06
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
2.58361e-06
|
|
|
FMR1
|
[NCBI]
|
2.49734e-06
|
|
|
FRDA
|
[NCBI]
|
2.49204e-06
|
|
|
krabbe disease
|
[NCBI]
|
2.13097e-06
|
|
|
GDNF
|
[NCBI]
|
1.83658e-06
|
|
|
PWS
|
[NCBI]
|
1.63606e-06
|
|
|
PMD
|
[NCBI]
|
1.614e-06
|
|
|
TNFSF10
|
[NCBI]
|
1.52708e-06
|
|
|
amyloidosis vi
|
[NCBI]
|
1.3836e-06
|
|
|
HD
|
[NCBI]
|
1.29135e-06
|
|
|
MDD
|
[NCBI]
|
1.16447e-06
|
|
|
ACHE
|
[NCBI]
|
1.09191e-06
|
|
|
MBP
|
[NCBI]
|
1.03689e-06
|
|
|
KSS
|
[NCBI]
|
8.45544e-07
|
|
|
TG
|
[NCBI]
|
6.51325e-07
|
|
|
APOB
|
[NCBI]
|
5.73939e-07
|
|
|
TPO
|
[NCBI]
|
4.76859e-07
|
|
|
HP
|
[NCBI]
|
3.25727e-07
|
|
|
GAPDH
|
[NCBI]
|
2.25054e-07
|
|
|
GNRH1
|
[NCBI]
|
1.64542e-07
|
|
|
leber optic atrophy
|
[NCBI]
|
1.63064e-07
|
|
|
LAM
|
[NCBI]
|
1.5147e-07
|
|
|
AVP
|
[NCBI]
|
8.55096e-08
|
|