|
OMIM |
Link |
Information gain |
01 |
|
JBTS1
|
[NCBI]
|
0.0141996
|
|
|
spinocerebellar ataxia 29
|
[NCBI]
|
0.00671799
|
|
|
arima syndrome
|
[NCBI]
|
0.00581122
|
|
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
0.00418708
|
|
|
JBTS2
|
[NCBI]
|
0.00401775
|
|
|
pontocerebellar hypoplasia, type 2
|
[NCBI]
|
0.00276603
|
|
|
cerebellar atrophy with progressive microcephaly
|
[NCBI]
|
0.00276603
|
|
|
SCAR2
|
[NCBI]
|
0.00226508
|
|
|
cerebellar ataxia and hypogonadotropic hypogonadism
|
[NCBI]
|
0.00201845
|
|
|
DWS
|
[NCBI]
|
0.0019337
|
|
|
pontocerebellar hypoplasia, type 1
|
[NCBI]
|
0.00184192
|
|
|
cerebellar hypoplasia
|
[NCBI]
|
0.00141724
|
|
|
MJD
|
[NCBI]
|
0.00121346
|
|
|
GFAP
|
[NCBI]
|
0.00110516
|
|
|
chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
|
[NCBI]
|
0.00109811
|
|
|
HHS
|
[NCBI]
|
0.00105867
|
|
|
chiari malformation type i
|
[NCBI]
|
0.0010016
|
|
|
SCAX1
|
[NCBI]
|
0.000999952
|
|
|
kohlschutter-tonz syndrome
|
[NCBI]
|
0.000999952
|
|
|
DYTCA
|
[NCBI]
|
0.000919921
|
|
|
EOCA
|
[NCBI]
|
0.000919921
|
|
|
cerebellar hypoplasia, mental retardation, and quadrupedal locomotion
|
[NCBI]
|
0.000919921
|
|
|
angiomatosis, diffuse corticomeningeal, of divry and van bogaert
|
[NCBI]
|
0.000919921
|
|
|
SPG32
|
[NCBI]
|
0.000919921
|
|
|
SCA26
|
[NCBI]
|
0.000919921
|
|
|
CPD2
|
[NCBI]
|
0.000919921
|
|
|
oculorenocerebellar syndrome
|
[NCBI]
|
0.000919921
|
|
|
BDNF
|
[NCBI]
|
0.000791062
|
|
|
mohr syndrome
|
[NCBI]
|
0.00074892
|
|
|
CJD
|
[NCBI]
|
0.000732086
|
|
|
SCA2
|
[NCBI]
|
0.000673513
|
|
|
CF
|
[NCBI]
|
0.000659631
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.000630538
|
|
|
SCA1
|
[NCBI]
|
0.0006232
|
|
|
CSE
|
[NCBI]
|
0.000612657
|
|
|
nievergelt syndrome
|
[NCBI]
|
0.000612657
|
|
|
knobloch syndrome, type ii
|
[NCBI]
|
0.000612657
|
|
|
SCA20
|
[NCBI]
|
0.000612657
|
|
|
OFD3
|
[NCBI]
|
0.000612657
|
|
|
SCA25
|
[NCBI]
|
0.000612657
|
|
|
NYS4
|
[NCBI]
|
0.000612657
|
|
|
behr syndrome
|
[NCBI]
|
0.000499004
|
|
|
OFD5
|
[NCBI]
|
0.000499004
|
|
|
carnosinemia
|
[NCBI]
|
0.000499004
|
|
|
SCAR6
|
[NCBI]
|
0.000499004
|
|
|
DRPLA
|
[NCBI]
|
0.000443066
|
|
|
ocular motor apraxia
|
[NCBI]
|
0.000426506
|
|
|
dandy-walker malformation with mental retardation, basal ganglia disease, and seizures
|
[NCBI]
|
0.000426506
|
|
|
EAOH
|
[NCBI]
|
0.000424884
|
|
|
JBTS3
|
[NCBI]
|
0.000419672
|
|
|
hydrocephalus with cerebellar agenesis
|
[NCBI]
|
0.000415746
|
|
|
SPS
|
[NCBI]
|
0.000395252
|
|
|
SACS
|
[NCBI]
|
0.000380366
|
|
|
OFD9
|
[NCBI]
|
0.000373554
|
|
|
chorioretinal atrophy, progressive bifocal
|
[NCBI]
|
0.000373554
|
|
|
CLN4A
|
[NCBI]
|
0.000373554
|
|
|
SCA7
|
[NCBI]
|
0.000369325
|
|
|
coach syndrome
|
[NCBI]
|
0.000352229
|
|
|
VLDLRCH
|
[NCBI]
|
0.000352229
|
|
|
SCA6
|
[NCBI]
|
0.000337098
|
|
|
progeroid syndrome, neonatal
|
[NCBI]
|
0.000332115
|
|
|
IOSCA
|
[NCBI]
|
0.000332115
|
|
|
cerebellotrigeminal dermal dysplasia
|
[NCBI]
|
0.000320831
|
|
|
mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance
|
[NCBI]
|
0.000320831
|
|
|
TNF
|
[NCBI]
|
0.000301517
|
|
|
microcephaly, hiatus hernia, and nephrotic syndrome
|
[NCBI]
|
0.000298283
|
|
|
CLN4B
|
[NCBI]
|
0.000298283
|
|
|
OFD4
|
[NCBI]
|
0.000298283
|
|
|
autism
|
[NCBI]
|
0.000297199
|
|
|
SLE
|
[NCBI]
|
0.00028091
|
|
|
encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia
|
[NCBI]
|
0.00027709
|
|
|
JBTS4
|
[NCBI]
|
0.00027709
|
|
|
SHH
|
[NCBI]
|
0.000261442
|
|
|
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging
|
[NCBI]
|
0.000245476
|
|
|
ADCYAP1
|
[NCBI]
|
0.000244225
|
|
|
CDG1A
|
[NCBI]
|
0.000238461
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
0.000230147
|
|
|
epilepsy, myoclonic, benign adult familial, type 1
|
[NCBI]
|
0.000224233
|
|
|
diabetes mellitus, permanent neonatal, with cerebellar agenesis
|
[NCBI]
|
0.000223201
|
|
|
VEGF
|
[NCBI]
|
0.000215016
|
|
|
EA2
|
[NCBI]
|
0.000205634
|
|
|
walker-warburg syndrome
|
[NCBI]
|
0.00020547
|
|
|
myoclonus and ataxia
|
[NCBI]
|
0.000198962
|
|
|
basal ganglia disease, adult-onset
|
[NCBI]
|
0.000198962
|
|
|
PD
|
[NCBI]
|
0.000184724
|
|
|
MSS
|
[NCBI]
|
0.000175564
|
|
|
MAG
|
[NCBI]
|
0.00017369
|
|
|
AT
|
[NCBI]
|
0.000170561
|
|
|
SCA14
|
[NCBI]
|
0.000169739
|
|
|
LIS2
|
[NCBI]
|
0.000169739
|
|
|
MDC1C
|
[NCBI]
|
0.000159503
|
|
|
ATXN1
|
[NCBI]
|
0.000157222
|
|
|
medulloblastoma
|
[NCBI]
|
0.000150911
|
|
|
PRL
|
[NCBI]
|
0.000145133
|
|
|
SCAR1
|
[NCBI]
|
0.000143512
|
|
|
GRID2
|
[NCBI]
|
0.000141937
|
|
|
PCH6
|
[NCBI]
|
0.000138508
|
|
|
DTGA1
|
[NCBI]
|
0.000138508
|
|
|
neurologic disease, infantile multisystem, with osseous fragility
|
[NCBI]
|
0.000138508
|
|
|
lissencephaly, familial, with cleft palate and cerebellar hypoplasia
|
[NCBI]
|
0.000138508
|
|
|
ataxia with myoclonic epilepsy and presenile dementia
|
[NCBI]
|
0.000138508
|
|
|
SCAR8
|
[NCBI]
|
0.000138508
|
|
|
revesz syndrome
|
[NCBI]
|
0.000138508
|
|
|
microcephalic primordial dwarfism, toriello type
|
[NCBI]
|
0.000138508
|
|
|
anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
|
[NCBI]
|
0.000138508
|
|
|
cerebellar hypoplasia with endosteal sclerosis
|
[NCBI]
|
0.000138508
|
|
|
laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy
|
[NCBI]
|
0.000138508
|
|
|
muscular dystrophy, congenital, with cerebellar atrophy
|
[NCBI]
|
0.000138508
|
|
|
aprosencephaly and cerebellar dysgenesis
|
[NCBI]
|
0.000138508
|
|
|
porencephaly, cerebellar hypoplasia, and internal malformations
|
[NCBI]
|
0.000138508
|
|
|
cerebellar ataxia and hypergonadotropic hypogonadism
|
[NCBI]
|
0.000138508
|
|
|
SCA10
|
[NCBI]
|
0.00013702
|
|
|
spinocerebellar ataxia, 16q22-linked
|
[NCBI]
|
0.00013702
|
|
|
CMD3B
|
[NCBI]
|
0.00013702
|
|
|
MAP2
|
[NCBI]
|
0.000130242
|
|
|
PTH
|
[NCBI]
|
0.000127414
|
|
|
FXTAS
|
[NCBI]
|
0.000126037
|
|
|
succinic semialdehyde dehydrogenase deficiency
|
[NCBI]
|
0.000126037
|
|
|
ACHE
|
[NCBI]
|
0.000125467
|
|
|
RELN
|
[NCBI]
|
0.000122337
|
|
|
LCA1
|
[NCBI]
|
0.000121308
|
|
|
COFS1
|
[NCBI]
|
0.000116976
|
|
|
SCA17
|
[NCBI]
|
0.000116976
|
|
|
FCMD
|
[NCBI]
|
0.000114174
|
|
|
feingold syndrome
|
[NCBI]
|
0.000112982
|
|
|
SLC1A6
|
[NCBI]
|
0.000109255
|
|
|
AHI1
|
[NCBI]
|
0.000109255
|
|
|
WBS
|
[NCBI]
|
0.000109121
|
|
|
MKS1
|
[NCBI]
|
0.000107378
|
|
|
NGFB
|
[NCBI]
|
0.000107332
|
|
|
OPHN1
|
[NCBI]
|
0.000104705
|
|
|
SPG3A
|
[NCBI]
|
0.000102605
|
|
|
TS
|
[NCBI]
|
0.000101821
|
|
|
SCAN1
|
[NCBI]
|
9.9445e-05
|
|
|
SPG20
|
[NCBI]
|
9.9445e-05
|
|
|
spinocerebellar ataxia, x-linked 3
|
[NCBI]
|
9.9445e-05
|
|
|
OFD7
|
[NCBI]
|
9.9445e-05
|
|
|
ceroid storage disease
|
[NCBI]
|
9.9445e-05
|
|
|
MKS4
|
[NCBI]
|
9.9445e-05
|
|
|
ataxia-microcephaly-cataract syndrome
|
[NCBI]
|
9.9445e-05
|
|
|
dandy-walker malformation with postaxial polydactyly
|
[NCBI]
|
9.9445e-05
|
|
|
mast syndrome
|
[NCBI]
|
9.9445e-05
|
|
|
martsolf syndrome
|
[NCBI]
|
9.9445e-05
|
|
|
JBTS6
|
[NCBI]
|
9.9445e-05
|
|
|
ZIC1
|
[NCBI]
|
9.56022e-05
|
|
|
wilson disease
|
[NCBI]
|
9.42519e-05
|
|
|
GABRA6
|
[NCBI]
|
8.7608e-05
|
|
|
myoclonic epilepsy of unverricht and lundborg
|
[NCBI]
|
8.67419e-05
|
|
|
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
|
[NCBI]
|
8.4834e-05
|
|
|
malonyl-coa decarboxylase deficiency
|
[NCBI]
|
8.4834e-05
|
|
|
JBTS5
|
[NCBI]
|
8.4834e-05
|
|
|
MRX63
|
[NCBI]
|
8.4834e-05
|
|
|
neuronal intranuclear inclusion disease
|
[NCBI]
|
8.4834e-05
|
|
|
SCA27
|
[NCBI]
|
8.4834e-05
|
|
|
CACNA1A
|
[NCBI]
|
8.41496e-05
|
|
|
FRDA
|
[NCBI]
|
8.3393e-05
|
|
|
MBP
|
[NCBI]
|
8.31725e-05
|
|
|
SRG1
|
[NCBI]
|
8.1932e-05
|
|
|
APTX
|
[NCBI]
|
8.09322e-05
|
|
|
MBS
|
[NCBI]
|
7.93164e-05
|
|
|
coffin-siris syndrome
|
[NCBI]
|
7.93164e-05
|
|
|
CDK5
|
[NCBI]
|
7.79103e-05
|
|
|
CACNG2
|
[NCBI]
|
7.74972e-05
|
|
|
UNC5C
|
[NCBI]
|
7.74972e-05
|
|
|
ASAT
|
[NCBI]
|
7.54206e-05
|
|
|
hypotension, orthostatic
|
[NCBI]
|
7.54206e-05
|
|
|
SCA15
|
[NCBI]
|
7.54206e-05
|
|
|
FAAH
|
[NCBI]
|
7.49472e-05
|
|
|
ZIC4
|
[NCBI]
|
7.45006e-05
|
|
|
MEB
|
[NCBI]
|
7.15274e-05
|
|
|
ATM
|
[NCBI]
|
7.0606e-05
|
|
|
EGF
|
[NCBI]
|
6.98246e-05
|
|
|
hyperpipecolatemia
|
[NCBI]
|
6.84756e-05
|
|
|
SANDO
|
[NCBI]
|
6.84756e-05
|
|
|
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome
|
[NCBI]
|
6.84756e-05
|
|
|
GABRD
|
[NCBI]
|
6.8054e-05
|
|
|
ITPR1
|
[NCBI]
|
6.8054e-05
|
|
|
PEDF
|
[NCBI]
|
6.43303e-05
|
|
|
RIMS1
|
[NCBI]
|
6.35311e-05
|
|
|
gaucher disease, atypical, due to saposin c deficiency
|
[NCBI]
|
6.29847e-05
|
|
|
polymicrogyria, bilateral frontoparietal
|
[NCBI]
|
6.29847e-05
|
|
|
SCA5
|
[NCBI]
|
6.29847e-05
|
|
|
gliosis, familial progressive subcortical
|
[NCBI]
|
6.29847e-05
|
|
|
down syndrome
|
[NCBI]
|
6.27797e-05
|
|
|
PQBP1
|
[NCBI]
|
6.15942e-05
|
|
|
AR
|
[NCBI]
|
6.12246e-05
|
|
|
CACNG3
|
[NCBI]
|
6.07896e-05
|
|
|
BARHL1
|
[NCBI]
|
6.07896e-05
|
|
|
CHAT
|
[NCBI]
|
6.04079e-05
|
|
|
GRIA2
|
[NCBI]
|
5.98951e-05
|
|
|
CSPG5
|
[NCBI]
|
5.98241e-05
|
|
|
EGFR
|
[NCBI]
|
5.95019e-05
|
|
|
peroxisomal acyl-coa oxidase deficiency
|
[NCBI]
|
5.84544e-05
|
|
|
agammaglobulinemia, non-bruton type, autosomal recessive
|
[NCBI]
|
5.84544e-05
|
|
|
amme complex
|
[NCBI]
|
5.84544e-05
|
|
|
de sanctis-cacchione syndrome
|
[NCBI]
|
5.84544e-05
|
|
|
WARBM
|
[NCBI]
|
5.84544e-05
|
|
|
marshall-smith syndrome
|
[NCBI]
|
5.84544e-05
|
|
|
AVP
|
[NCBI]
|
5.70764e-05
|
|
|
CSTB
|
[NCBI]
|
5.66858e-05
|
|
|
SLC6A3
|
[NCBI]
|
5.57296e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
5.55433e-05
|
|
|
DKC1
|
[NCBI]
|
5.5281e-05
|
|
|
AP3B2
|
[NCBI]
|
5.46151e-05
|
|
|
murcs association
|
[NCBI]
|
5.4607e-05
|
|
|
EPO
|
[NCBI]
|
5.34542e-05
|
|
|
ALS1
|
[NCBI]
|
5.13564e-05
|
|
|
KNO
|
[NCBI]
|
5.12701e-05
|
|
|
gaucher disease, type ii
|
[NCBI]
|
5.12701e-05
|
|
|
HGF
|
[NCBI]
|
5.12104e-05
|
|
|
TSD
|
[NCBI]
|
5.0901e-05
|
|
|
GRM4
|
[NCBI]
|
5.03892e-05
|
|
|
CD
|
[NCBI]
|
5.03768e-05
|
|
|
KSS
|
[NCBI]
|
4.91348e-05
|
|
|
LNS
|
[NCBI]
|
4.84904e-05
|
|
|
LIS1
|
[NCBI]
|
4.83294e-05
|
|
|
BPP
|
[NCBI]
|
4.83294e-05
|
|
|
SPTBN1
|
[NCBI]
|
4.71604e-05
|
|
|
KCNAB2
|
[NCBI]
|
4.71604e-05
|
|
|
amyloidosis vii
|
[NCBI]
|
4.57054e-05
|
|
|
canavan disease
|
[NCBI]
|
4.57054e-05
|
|
|
HSS
|
[NCBI]
|
4.57054e-05
|
|
|
EA1
|
[NCBI]
|
4.57054e-05
|
|
|
corpus callosum, agenesis of
|
[NCBI]
|
4.57054e-05
|
|
|
wagr syndrome
|
[NCBI]
|
4.57054e-05
|
|
|
hemophagocytic lymphohistiocytosis, familial, 1
|
[NCBI]
|
4.47501e-05
|
|
|
KCNJ6
|
[NCBI]
|
4.45453e-05
|
|
|
mannosidosis, beta a, lysosomal
|
[NCBI]
|
4.33401e-05
|
|
|
FHM2
|
[NCBI]
|
4.33401e-05
|
|
|
PRNP
|
[NCBI]
|
4.29516e-05
|
|
|
SACS
|
[NCBI]
|
4.2348e-05
|
|
|
GAPDH
|
[NCBI]
|
4.18549e-05
|
|
|
propionic acidemia
|
[NCBI]
|
4.11903e-05
|
|
|
biotinidase deficiency
|
[NCBI]
|
4.11903e-05
|
|
|
CLN2
|
[NCBI]
|
4.11903e-05
|
|
|
PTF1A
|
[NCBI]
|
4.0454e-05
|
|
|
NRG2
|
[NCBI]
|
4.0454e-05
|
|
|
ATOH1
|
[NCBI]
|
4.0454e-05
|
|
|
CFTR
|
[NCBI]
|
4.04284e-05
|
|
|
OPD2
|
[NCBI]
|
3.92227e-05
|
|
|
VED
|
[NCBI]
|
3.92227e-05
|
|
|
EN2
|
[NCBI]
|
3.87905e-05
|
|
|
PNPLA6
|
[NCBI]
|
3.87758e-05
|
|
|
DAO
|
[NCBI]
|
3.87442e-05
|
|
|
DBI
|
[NCBI]
|
3.85353e-05
|
|
|
CRH
|
[NCBI]
|
3.83121e-05
|
|
|
EIG
|
[NCBI]
|
3.81697e-05
|
|
|
VHL
|
[NCBI]
|
3.81697e-05
|
|
|
VIP
|
[NCBI]
|
3.77697e-05
|
|
|
APC
|
[NCBI]
|
3.77687e-05
|
|
|
coenzyme q10 deficiency
|
[NCBI]
|
3.74112e-05
|
|
|
INAD1
|
[NCBI]
|
3.74112e-05
|
|
|
heterotopia, periventricular, x-linked dominant
|
[NCBI]
|
3.74112e-05
|
|
|
MTPN
|
[NCBI]
|
3.73082e-05
|
|
|
CACNG7
|
[NCBI]
|
3.72472e-05
|
|
|
ZFP103
|
[NCBI]
|
3.72472e-05
|
|
|
NGDN
|
[NCBI]
|
3.72472e-05
|
|
|
saitohin
|
[NCBI]
|
3.72472e-05
|
|
|
EFHD1
|
[NCBI]
|
3.72472e-05
|
|
|
CACNG6
|
[NCBI]
|
3.72472e-05
|
|
|
MAB21L2
|
[NCBI]
|
3.72472e-05
|
|
|
KCNK10
|
[NCBI]
|
3.72472e-05
|
|
|
g-substrate
|
[NCBI]
|
3.72472e-05
|
|
|
FZD10
|
[NCBI]
|
3.72472e-05
|
|
|
mental retardation, x-linked, south african type
|
[NCBI]
|
3.72472e-05
|
|
|
SCN8A
|
[NCBI]
|
3.59721e-05
|
|
|
FABP7
|
[NCBI]
|
3.59721e-05
|
|
|
MLC
|
[NCBI]
|
3.57349e-05
|
|
|
NBIA1
|
[NCBI]
|
3.57349e-05
|
|
|
FHM1
|
[NCBI]
|
3.57349e-05
|
|
|
pick disease of brain
|
[NCBI]
|
3.57349e-05
|
|
|
alexander disease
|
[NCBI]
|
3.57349e-05
|
|
|
GRM1
|
[NCBI]
|
3.47566e-05
|
|
|
OTX2
|
[NCBI]
|
3.47566e-05
|
|
|
menkes disease
|
[NCBI]
|
3.42962e-05
|
|
|
crigler-najjar syndrome
|
[NCBI]
|
3.41769e-05
|
|
|
FTLDU
|
[NCBI]
|
3.41769e-05
|
|
|
septooptic dysplasia
|
[NCBI]
|
3.41769e-05
|
|
|
usher syndrome, type i
|
[NCBI]
|
3.27233e-05
|
|
|
PRKCA
|
[NCBI]
|
3.26137e-05
|
|
|
CDH2
|
[NCBI]
|
3.26137e-05
|
|
|
MOG
|
[NCBI]
|
3.26137e-05
|
|
|
ANP32A
|
[NCBI]
|
3.26137e-05
|
|
|
WNT1
|
[NCBI]
|
3.26137e-05
|
|
|
ALD
|
[NCBI]
|
3.237e-05
|
|
|
TNFSF6
|
[NCBI]
|
3.23216e-05
|
|
|
NGFR
|
[NCBI]
|
3.22042e-05
|
|
|
AD
|
[NCBI]
|
3.20606e-05
|
|
|
amyloidosis vi
|
[NCBI]
|
3.18823e-05
|
|
|
MAP1B
|
[NCBI]
|
3.15544e-05
|
|
|
PWS
|
[NCBI]
|
3.01178e-05
|
|
|
NPY
|
[NCBI]
|
2.8769e-05
|
|
|
BCHE
|
[NCBI]
|
2.7338e-05
|
|
|
KCNC4
|
[NCBI]
|
2.73044e-05
|
|
|
KCNJ10
|
[NCBI]
|
2.73044e-05
|
|
|
IMPG1
|
[NCBI]
|
2.73044e-05
|
|
|
MAPK8IP2
|
[NCBI]
|
2.73044e-05
|
|
|
RARS2
|
[NCBI]
|
2.73044e-05
|
|
|
ASTN
|
[NCBI]
|
2.73044e-05
|
|
|
CACNG5
|
[NCBI]
|
2.73044e-05
|
|
|
PLCB4
|
[NCBI]
|
2.73044e-05
|
|
|
WBP1
|
[NCBI]
|
2.73044e-05
|
|
|
FGF22
|
[NCBI]
|
2.73044e-05
|
|
|
CNTNAP1
|
[NCBI]
|
2.73044e-05
|
|
|
OPN3
|
[NCBI]
|
2.73044e-05
|
|
|
DLGAP2
|
[NCBI]
|
2.73044e-05
|
|
|
BARHL2
|
[NCBI]
|
2.73044e-05
|
|
|
CNTN6
|
[NCBI]
|
2.73044e-05
|
|
|
CACNG8
|
[NCBI]
|
2.73044e-05
|
|
|
WBP2
|
[NCBI]
|
2.73044e-05
|
|
|
FKRP
|
[NCBI]
|
2.70533e-05
|
|
|
APOE
|
[NCBI]
|
2.67321e-05
|
|
|
sialuria, finnish type
|
[NCBI]
|
2.66714e-05
|
|
|
PFM
|
[NCBI]
|
2.66714e-05
|
|
|
ADHD
|
[NCBI]
|
2.66714e-05
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
2.56999e-05
|
|
|
DYT1
|
[NCBI]
|
2.56532e-05
|
|
|
glycogen storage disease iv
|
[NCBI]
|
2.56532e-05
|
|
|
NOS1
|
[NCBI]
|
2.47041e-05
|
|
|
mucolipidosis iv
|
[NCBI]
|
2.46863e-05
|
|
|
DKC
|
[NCBI]
|
2.37667e-05
|
|
|
DLG1
|
[NCBI]
|
2.36769e-05
|
|
|
CYP26B1
|
[NCBI]
|
2.35771e-05
|
|
|
ZNF423
|
[NCBI]
|
2.35771e-05
|
|
|
P2RX5
|
[NCBI]
|
2.35771e-05
|
|
|
ZNF385
|
[NCBI]
|
2.35771e-05
|
|
|
acidic cluster protein, 33-kd
|
[NCBI]
|
2.35771e-05
|
|
|
THRAP2
|
[NCBI]
|
2.35771e-05
|
|
|
BRE
|
[NCBI]
|
2.35771e-05
|
|
|
PRKG2
|
[NCBI]
|
2.35771e-05
|
|
|
TMEM67
|
[NCBI]
|
2.35771e-05
|
|
|
KLHL1
|
[NCBI]
|
2.35771e-05
|
|
|
CNTN1
|
[NCBI]
|
2.35771e-05
|
|
|
NPTX1
|
[NCBI]
|
2.35771e-05
|
|
|
CACNG4
|
[NCBI]
|
2.35771e-05
|
|
|
PFAS
|
[NCBI]
|
2.35771e-05
|
|
|
EBF2
|
[NCBI]
|
2.35771e-05
|
|
|
ALG10
|
[NCBI]
|
2.35771e-05
|
|
|
NXPH3
|
[NCBI]
|
2.35771e-05
|
|
|
INPP4A
|
[NCBI]
|
2.35771e-05
|
|
|
IDH3G
|
[NCBI]
|
2.35771e-05
|
|
|
GAS7
|
[NCBI]
|
2.35771e-05
|
|
|
KIAA0513
|
[NCBI]
|
2.35771e-05
|
|
|
HOXA2
|
[NCBI]
|
2.35771e-05
|
|
|
FKBP8
|
[NCBI]
|
2.35771e-05
|
|
|
TDP1
|
[NCBI]
|
2.35771e-05
|
|
|
ELAVL3
|
[NCBI]
|
2.35771e-05
|
|
|
AFP
|
[NCBI]
|
2.19564e-05
|
|
|
OPRM1
|
[NCBI]
|
2.18654e-05
|
|
|
SLC17A7
|
[NCBI]
|
2.185e-05
|
|
|
CXCL12
|
[NCBI]
|
2.14335e-05
|
|
|
faciogenital dysplasia
|
[NCBI]
|
2.12572e-05
|
|
|
NF2
|
[NCBI]
|
2.12572e-05
|
|
|
MOX2
|
[NCBI]
|
2.11709e-05
|
|
|
CACNA2D2
|
[NCBI]
|
2.11709e-05
|
|
|
CCT4
|
[NCBI]
|
2.11709e-05
|
|
|
NEO1
|
[NCBI]
|
2.11709e-05
|
|
|
SPTBN2
|
[NCBI]
|
2.11709e-05
|
|
|
YWHAH
|
[NCBI]
|
2.11709e-05
|
|
|
TUBB3
|
[NCBI]
|
2.11709e-05
|
|
|
RGS8
|
[NCBI]
|
2.11709e-05
|
|
|
CNTN2
|
[NCBI]
|
2.11709e-05
|
|
|
PFTK1
|
[NCBI]
|
2.11709e-05
|
|
|
NTNG1
|
[NCBI]
|
2.11709e-05
|
|
|
IGSF4B
|
[NCBI]
|
2.11709e-05
|
|
|
MAP2K6
|
[NCBI]
|
2.11709e-05
|
|
|
GPM6A
|
[NCBI]
|
2.11709e-05
|
|
|
HIF3A
|
[NCBI]
|
2.11709e-05
|
|
|
FAIM2
|
[NCBI]
|
2.11709e-05
|
|
|
MAB21L1
|
[NCBI]
|
2.11709e-05
|
|
|
VBP1
|
[NCBI]
|
2.11709e-05
|
|
|
DSCAML1
|
[NCBI]
|
2.11709e-05
|
|
|
PAFAH1B1
|
[NCBI]
|
2.06418e-05
|
|
|
VLDLR
|
[NCBI]
|
2.06418e-05
|
|
|
NRG1
|
[NCBI]
|
2.05939e-05
|
|
|
NTRK2
|
[NCBI]
|
2.02651e-05
|
|
|
CXCR4
|
[NCBI]
|
1.99002e-05
|
|
|
ALDH9A1
|
[NCBI]
|
1.93922e-05
|
|
|
SYNE1
|
[NCBI]
|
1.93922e-05
|
|
|
ATG7
|
[NCBI]
|
1.93922e-05
|
|
|
GRM2
|
[NCBI]
|
1.93922e-05
|
|
|
SLC6A5
|
[NCBI]
|
1.93922e-05
|
|
|
NOVA1
|
[NCBI]
|
1.93922e-05
|
|
|
CHN2
|
[NCBI]
|
1.93922e-05
|
|
|
SPG20
|
[NCBI]
|
1.93922e-05
|
|
|
GABRA4
|
[NCBI]
|
1.93922e-05
|
|
|
CABP1
|
[NCBI]
|
1.93922e-05
|
|
|
CDH15
|
[NCBI]
|
1.93922e-05
|
|
|
BAD
|
[NCBI]
|
1.93922e-05
|
|
|
PRND
|
[NCBI]
|
1.93922e-05
|
|
|
GRIK2
|
[NCBI]
|
1.93922e-05
|
|
|
SLC1A2
|
[NCBI]
|
1.92031e-05
|
|
|
RCDP1
|
[NCBI]
|
1.90634e-05
|
|
|
glioma of brain, familial
|
[NCBI]
|
1.90634e-05
|
|
|
MAPT
|
[NCBI]
|
1.88694e-05
|
|
|
CAT
|
[NCBI]
|
1.80579e-05
|
|
|
ABCB7
|
[NCBI]
|
1.79831e-05
|
|
|
SLC4A3
|
[NCBI]
|
1.79831e-05
|
|
|
CDKN2C
|
[NCBI]
|
1.79831e-05
|
|
|
CNR2
|
[NCBI]
|
1.79831e-05
|
|
|
CACNB4
|
[NCBI]
|
1.79831e-05
|
|
|
SEMA3A
|
[NCBI]
|
1.7925e-05
|
|
|
krabbe disease
|
[NCBI]
|
1.78747e-05
|
|
|
GRIA1
|
[NCBI]
|
1.73367e-05
|
|
|
CSA
|
[NCBI]
|
1.71279e-05
|
|
|
SIL1
|
[NCBI]
|
1.68182e-05
|
|
|
GBX2
|
[NCBI]
|
1.68182e-05
|
|
|
FNBP1
|
[NCBI]
|
1.68182e-05
|
|
|
FGF14
|
[NCBI]
|
1.68182e-05
|
|
|
EPS8
|
[NCBI]
|
1.68182e-05
|
|
|
GRIN2C
|
[NCBI]
|
1.68182e-05
|
|
|
OTX1
|
[NCBI]
|
1.68182e-05
|
|
|
INADL
|
[NCBI]
|
1.68182e-05
|
|
|
KCNJ3
|
[NCBI]
|
1.68182e-05
|
|
|
CTNNA2
|
[NCBI]
|
1.68182e-05
|
|
|
MAPK10
|
[NCBI]
|
1.68182e-05
|
|
|
BIRC1
|
[NCBI]
|
1.67782e-05
|
|
|
PTK2
|
[NCBI]
|
1.67626e-05
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
1.65323e-05
|
|
|
HD
|
[NCBI]
|
1.62838e-05
|
|
|
FLNA
|
[NCBI]
|
1.59908e-05
|
|
|
CLN3
|
[NCBI]
|
1.59593e-05
|
|
|
GART
|
[NCBI]
|
1.58268e-05
|
|
|
IREB2
|
[NCBI]
|
1.58268e-05
|
|
|
NPHP1
|
[NCBI]
|
1.58268e-05
|
|
|
FZD4
|
[NCBI]
|
1.58268e-05
|
|
|
TRPC3
|
[NCBI]
|
1.58268e-05
|
|
|
HR
|
[NCBI]
|
1.58268e-05
|
|
|
CD38
|
[NCBI]
|
1.58268e-05
|
|
|
MLYCD
|
[NCBI]
|
1.58268e-05
|
|
|
ACP2
|
[NCBI]
|
1.58268e-05
|
|
|
PARD6A
|
[NCBI]
|
1.58268e-05
|
|
|
SYT2
|
[NCBI]
|
1.58268e-05
|
|
|
DAB1
|
[NCBI]
|
1.58268e-05
|
|
|
DBN1
|
[NCBI]
|
1.58268e-05
|
|
|
MYT1
|
[NCBI]
|
1.58268e-05
|
|
|
GDNF
|
[NCBI]
|
1.55542e-05
|
|
|
RNASE3
|
[NCBI]
|
1.5149e-05
|
|
|
TRPC6
|
[NCBI]
|
1.49652e-05
|
|
|
CHRD
|
[NCBI]
|
1.49652e-05
|
|
|
ATP1A2
|
[NCBI]
|
1.49652e-05
|
|
|
NR1H2
|
[NCBI]
|
1.49652e-05
|
|
|
SYN1
|
[NCBI]
|
1.49652e-05
|
|
|
NNAT
|
[NCBI]
|
1.49652e-05
|
|
|
TGIF
|
[NCBI]
|
1.49652e-05
|
|
|
BAIAP2
|
[NCBI]
|
1.49652e-05
|
|
|
SLOS
|
[NCBI]
|
1.49043e-05
|
|
|
CDC2
|
[NCBI]
|
1.45724e-05
|
|
|
SLC2A3
|
[NCBI]
|
1.42043e-05
|
|
|
NES
|
[NCBI]
|
1.42043e-05
|
|
|
ADD1
|
[NCBI]
|
1.42043e-05
|
|
|
FACL4
|
[NCBI]
|
1.42043e-05
|
|
|
CEP290
|
[NCBI]
|
1.42043e-05
|
|
|
GABBR2
|
[NCBI]
|
1.42043e-05
|
|
|
SQSTM1
|
[NCBI]
|
1.42043e-05
|
|
|
GNAQ
|
[NCBI]
|
1.42043e-05
|
|
|
CSF2RB
|
[NCBI]
|
1.42043e-05
|
|
|
RORA
|
[NCBI]
|
1.42043e-05
|
|
|
DYRK1A
|
[NCBI]
|
1.42043e-05
|
|
|
ATXN3
|
[NCBI]
|
1.42043e-05
|
|
|
AMC
|
[NCBI]
|
1.38691e-05
|
|
|
MSX2
|
[NCBI]
|
1.35238e-05
|
|
|
NPTX2
|
[NCBI]
|
1.35238e-05
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
1.35238e-05
|
|
|
POMC
|
[NCBI]
|
1.3455e-05
|
|
|
DLGAP1
|
[NCBI]
|
1.29092e-05
|
|
|
GABBR1
|
[NCBI]
|
1.29092e-05
|
|
|
ADSL
|
[NCBI]
|
1.29092e-05
|
|
|
RAPGEF3
|
[NCBI]
|
1.29092e-05
|
|
|
SLIT2
|
[NCBI]
|
1.29092e-05
|
|
|
BMI1
|
[NCBI]
|
1.29092e-05
|
|
|
CNTF
|
[NCBI]
|
1.28561e-05
|
|
|
OMP
|
[NCBI]
|
1.26221e-05
|
|
|
COL18A1
|
[NCBI]
|
1.23493e-05
|
|
|
AGTR2
|
[NCBI]
|
1.23493e-05
|
|
|
CNP
|
[NCBI]
|
1.23493e-05
|
|
|
PRKCZ
|
[NCBI]
|
1.23493e-05
|
|
|
MEF2C
|
[NCBI]
|
1.23493e-05
|
|
|
SPR
|
[NCBI]
|
1.18358e-05
|
|
|
CBR1
|
[NCBI]
|
1.18358e-05
|
|
|
ATXN7
|
[NCBI]
|
1.18358e-05
|
|
|
MEF2A
|
[NCBI]
|
1.18358e-05
|
|
|
PRKCG
|
[NCBI]
|
1.18358e-05
|
|
|
PGF
|
[NCBI]
|
1.13619e-05
|
|
|
EXT1
|
[NCBI]
|
1.13619e-05
|
|
|
STX1A
|
[NCBI]
|
1.13619e-05
|
|
|
CNR1
|
[NCBI]
|
1.09224e-05
|
|
|
UBE3A
|
[NCBI]
|
1.09224e-05
|
|
|
KCNA1
|
[NCBI]
|
1.09224e-05
|
|
|
PLAT
|
[NCBI]
|
1.09224e-05
|
|
|
NNMT
|
[NCBI]
|
1.09224e-05
|
|
|
THY1
|
[NCBI]
|
1.09224e-05
|
|
|
FMR1
|
[NCBI]
|
1.0584e-05
|
|
|
GLUD1
|
[NCBI]
|
1.05129e-05
|
|
|
MYO5A
|
[NCBI]
|
1.05129e-05
|
|
|
RPS6KA1
|
[NCBI]
|
1.013e-05
|
|
|
tay-sachs disease, ab variant
|
[NCBI]
|
1.013e-05
|
|
|
DLG4
|
[NCBI]
|
1.013e-05
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
1.01103e-05
|
|
|
CLS
|
[NCBI]
|
1.01103e-05
|
|
|
CASP8
|
[NCBI]
|
9.77065e-06
|
|
|
FTL
|
[NCBI]
|
9.4324e-06
|
|
|
SYT1
|
[NCBI]
|
9.4324e-06
|
|
|
HAP1
|
[NCBI]
|
9.4324e-06
|
|
|
TD1
|
[NCBI]
|
9.4163e-06
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
9.28308e-06
|
|
|
PAX5
|
[NCBI]
|
9.11313e-06
|
|
|
NPC1
|
[NCBI]
|
9.11313e-06
|
|
|
SLS
|
[NCBI]
|
9.08554e-06
|
|
|
LRP8
|
[NCBI]
|
8.81102e-06
|
|
|
GAL3ST1
|
[NCBI]
|
8.81102e-06
|
|
|
CCK
|
[NCBI]
|
8.69091e-06
|
|
|
HSPA1A
|
[NCBI]
|
8.52451e-06
|
|
|
AS
|
[NCBI]
|
8.40949e-06
|
|
|
FRAP1
|
[NCBI]
|
8.31992e-06
|
|
|
MYCN
|
[NCBI]
|
8.25226e-06
|
|
|
MFN2
|
[NCBI]
|
8.25226e-06
|
|
|
TF
|
[NCBI]
|
8.03195e-06
|
|
|
SPP1
|
[NCBI]
|
8.00799e-06
|
|
|
PTHLH
|
[NCBI]
|
8.00327e-06
|
|
|
FOXO3A
|
[NCBI]
|
7.74588e-06
|
|
|
CD44
|
[NCBI]
|
7.50978e-06
|
|
|
NBS1
|
[NCBI]
|
7.50978e-06
|
|
|
CDKN1B
|
[NCBI]
|
7.50978e-06
|
|
|
SLC17A6
|
[NCBI]
|
7.50978e-06
|
|
|
XPA
|
[NCBI]
|
7.28395e-06
|
|
|
GJB1
|
[NCBI]
|
7.11509e-06
|
|
|
PTN
|
[NCBI]
|
7.02204e-06
|
|
|
POLG
|
[NCBI]
|
6.86023e-06
|
|
|
HMI
|
[NCBI]
|
6.86023e-06
|
|
|
SIRT1
|
[NCBI]
|
6.86023e-06
|
|
|
NDP
|
[NCBI]
|
6.66109e-06
|
|
|
DRD2
|
[NCBI]
|
6.66109e-06
|
|
|
PPARA
|
[NCBI]
|
6.6524e-06
|
|
|
NPC1
|
[NCBI]
|
6.52992e-06
|
|
|
ABCA1
|
[NCBI]
|
6.28557e-06
|
|
|
BACE1
|
[NCBI]
|
6.28557e-06
|
|
|
PPT1
|
[NCBI]
|
6.28557e-06
|
|
|
GLB1
|
[NCBI]
|
6.28557e-06
|
|
|
TPI1
|
[NCBI]
|
6.28557e-06
|
|
|
DNAJC5
|
[NCBI]
|
6.10827e-06
|
|
|
SNRPN
|
[NCBI]
|
6.10827e-06
|
|
|
BAX
|
[NCBI]
|
5.61344e-06
|
|
|
FGF7
|
[NCBI]
|
5.46794e-06
|
|
|
FGF10
|
[NCBI]
|
5.45974e-06
|
|
|
FFI
|
[NCBI]
|
5.38619e-06
|
|
|
LS
|
[NCBI]
|
5.38619e-06
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
5.38619e-06
|
|
|
MAPK14
|
[NCBI]
|
5.31117e-06
|
|
|
AGER
|
[NCBI]
|
5.18287e-06
|
|
|
FXYD1
|
[NCBI]
|
5.16745e-06
|
|
|
SOD2
|
[NCBI]
|
5.05091e-06
|
|
|
DMD
|
[NCBI]
|
4.84807e-06
|
|
|
AKT1
|
[NCBI]
|
4.76313e-06
|
|
|
ARF6
|
[NCBI]
|
4.63659e-06
|
|
|
HMGB1
|
[NCBI]
|
4.51387e-06
|
|
|
L1CAM
|
[NCBI]
|
4.51387e-06
|
|
|
AANAT
|
[NCBI]
|
4.51387e-06
|
|
|
NTRK1
|
[NCBI]
|
4.51387e-06
|
|
|
PDCD8
|
[NCBI]
|
4.30612e-06
|
|
|
HCRT
|
[NCBI]
|
4.27917e-06
|
|
|
DNTT
|
[NCBI]
|
4.1669e-06
|
|
|
PCNA
|
[NCBI]
|
4.14682e-06
|
|
|
DFFB
|
[NCBI]
|
4.05782e-06
|
|
|
TH
|
[NCBI]
|
4.04423e-06
|
|
|
TFRC
|
[NCBI]
|
3.9518e-06
|
|
|
PAX3
|
[NCBI]
|
3.84872e-06
|
|
|
G6PD
|
[NCBI]
|
3.78387e-06
|
|
|
SRF
|
[NCBI]
|
3.73224e-06
|
|
|
MAOA
|
[NCBI]
|
3.65093e-06
|
|
|
GNAS
|
[NCBI]
|
3.55601e-06
|
|
|
TBP
|
[NCBI]
|
3.2006e-06
|
|
|
TP53
|
[NCBI]
|
3.15991e-06
|
|
|
BBS
|
[NCBI]
|
2.97216e-06
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
2.83662e-06
|
|
|
BCNS
|
[NCBI]
|
2.45522e-06
|
|
|
JAK2
|
[NCBI]
|
2.42273e-06
|
|
|
FGF8
|
[NCBI]
|
2.32716e-06
|
|
|
FTD
|
[NCBI]
|
2.32032e-06
|
|
|
GPI
|
[NCBI]
|
2.3139e-06
|
|
|
GNRH1
|
[NCBI]
|
2.11722e-06
|
|
|
AHR
|
[NCBI]
|
2.02086e-06
|
|
|
STAT3
|
[NCBI]
|
1.89465e-06
|
|
|
ILK
|
[NCBI]
|
1.82262e-06
|
|
|
ASS
|
[NCBI]
|
1.81892e-06
|
|
|
ADA
|
[NCBI]
|
1.81636e-06
|
|
|
GHRH
|
[NCBI]
|
1.79766e-06
|
|
|
BL
|
[NCBI]
|
1.7178e-06
|
|
|
STAR
|
[NCBI]
|
1.70234e-06
|
|
|
PLTP
|
[NCBI]
|
1.40599e-06
|
|
|
CPE
|
[NCBI]
|
1.28613e-06
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
1.26441e-06
|
|
|
PNMT
|
[NCBI]
|
1.16813e-06
|
|
|
TTR
|
[NCBI]
|
1.16552e-06
|
|
|
HPRT1
|
[NCBI]
|
1.06967e-06
|
|
|
ZS
|
[NCBI]
|
9.71003e-07
|
|
|
PTEN
|
[NCBI]
|
9.41072e-07
|
|
|
VIM
|
[NCBI]
|
8.52169e-07
|
|
|
RNASE2
|
[NCBI]
|
8.23898e-07
|
|
|
FGFR1
|
[NCBI]
|
6.67698e-07
|
|
|
PAM
|
[NCBI]
|
5.75523e-07
|
|
|
RASA1
|
[NCBI]
|
5.64777e-07
|
|
|
SMAX1
|
[NCBI]
|
5.63741e-07
|
|
|
PSEN1
|
[NCBI]
|
5.32772e-07
|
|
|
RBP1
|
[NCBI]
|
4.1698e-07
|
|
|
LRP1
|
[NCBI]
|
3.88625e-07
|
|
|
COMT
|
[NCBI]
|
3.70391e-07
|
|
|
TNC
|
[NCBI]
|
3.33777e-07
|
|
|
CDK2
|
[NCBI]
|
2.9156e-07
|
|
|
NR1I2
|
[NCBI]
|
2.629e-07
|
|
|
SLC6A4
|
[NCBI]
|
2.58397e-07
|
|
|
SDC2
|
[NCBI]
|
2.41019e-07
|
|
|
STAT1
|
[NCBI]
|
1.99815e-07
|
|
|
XDH
|
[NCBI]
|
1.81062e-07
|
|
|
DNMT1
|
[NCBI]
|
1.67328e-07
|
|
|
CP
|
[NCBI]
|
1.32083e-07
|
|
|
APP
|
[NCBI]
|
9.6393e-08
|
|
|
SLC2A4
|
[NCBI]
|
6.28345e-08
|
|
|
RTT
|
[NCBI]
|
3.67236e-08
|
|
|
IS1
|
[NCBI]
|
2.3541e-08
|
|
|
MDD
|
[NCBI]
|
2.15917e-08
|
|
|
SST
|
[NCBI]
|
1.82802e-08
|
|
|
NF1
|
[NCBI]
|
1.67162e-09
|
|
|
GTS
|
[NCBI]
|
1.57468e-09
|
|
|
DMD
|
[NCBI]
|
2.97988e-10
|
|