|
OMIM |
Link |
Information gain |
01 |
|
IBGC1
|
[NCBI]
|
0.00517973
|
|
|
basal ganglia calcification, idiopathic, childhood-onset
|
[NCBI]
|
0.00295102
|
|
|
peho syndrome
|
[NCBI]
|
0.00255453
|
|
|
megalencephaly
|
[NCBI]
|
0.00247289
|
|
|
folic acid, transport defect involving
|
[NCBI]
|
0.00157705
|
|
|
CARASIL
|
[NCBI]
|
0.00146596
|
|
|
RA
|
[NCBI]
|
0.00122849
|
|
|
holoprosencephaly
|
[NCBI]
|
0.000902633
|
|
|
leukoencephalopathy with metaphyseal chondrodysplasia
|
[NCBI]
|
0.000821081
|
|
|
crome syndrome
|
[NCBI]
|
0.000821081
|
|
|
VWM
|
[NCBI]
|
0.000641237
|
|
|
colloid cysts of third ventricle
|
[NCBI]
|
0.000623015
|
|
|
GFAP
|
[NCBI]
|
0.000604021
|
|
|
3-@hydroxyisobutyric aciduria
|
[NCBI]
|
0.000603963
|
|
|
pallidopyramidal syndrome
|
[NCBI]
|
0.000603963
|
|
|
opticocochleodentate degeneration
|
[NCBI]
|
0.000603963
|
|
|
ZS
|
[NCBI]
|
0.000595031
|
|
|
heterotopia, periventricular, x-linked dominant
|
[NCBI]
|
0.000568366
|
|
|
MLC
|
[NCBI]
|
0.000563205
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
0.00052848
|
|
|
AGS1
|
[NCBI]
|
0.000526786
|
|
|
asperger syndrome, susceptibility to, 1
|
[NCBI]
|
0.000522538
|
|
|
DRPLA
|
[NCBI]
|
0.000480181
|
|
|
CF
|
[NCBI]
|
0.00047088
|
|
|
renal-hepatic-pancreatic dysplasia with dandy-walker cyst
|
[NCBI]
|
0.000469955
|
|
|
basal ganglia calcification, idiopathic, 2
|
[NCBI]
|
0.000469955
|
|
|
indifference to pain, congenital, autosomal dominant
|
[NCBI]
|
0.000469955
|
|
|
laryngeal abductor paralysis
|
[NCBI]
|
0.000431071
|
|
|
hydroxykynureninuria
|
[NCBI]
|
0.000431071
|
|
|
bulbar palsy, progressive, with sensorineural deafness
|
[NCBI]
|
0.000431071
|
|
|
PSNP2
|
[NCBI]
|
0.000431071
|
|
|
DWS
|
[NCBI]
|
0.000421165
|
|
|
porencephaly, familial
|
[NCBI]
|
0.000412572
|
|
|
MELAS
|
[NCBI]
|
0.000409537
|
|
|
CMDR
|
[NCBI]
|
0.000374771
|
|
|
OPTB3
|
[NCBI]
|
0.000374046
|
|
|
sotos syndrome
|
[NCBI]
|
0.000362181
|
|
|
FLNA
|
[NCBI]
|
0.000359755
|
|
|
acrodysostosis
|
[NCBI]
|
0.000334214
|
|
|
menkes disease
|
[NCBI]
|
0.000296084
|
|
|
LS
|
[NCBI]
|
0.000286368
|
|
|
EIF2B5
|
[NCBI]
|
0.000286138
|
|
|
centralopathic epilepsy
|
[NCBI]
|
0.000276901
|
|
|
ALD
|
[NCBI]
|
0.000248879
|
|
|
SNDI
|
[NCBI]
|
0.000207382
|
|
|
hashimoto thyroiditis
|
[NCBI]
|
0.000175742
|
|
|
JBTS1
|
[NCBI]
|
0.000170538
|
|
|
cerebrocortical degeneration of infancy
|
[NCBI]
|
0.000168259
|
|
|
encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration
|
[NCBI]
|
0.000168259
|
|
|
EIF2B2
|
[NCBI]
|
0.000165094
|
|
|
MTTL1
|
[NCBI]
|
0.000163957
|
|
|
LIS1
|
[NCBI]
|
0.000160114
|
|
|
CJD
|
[NCBI]
|
0.000142388
|
|
|
RNS
|
[NCBI]
|
0.000139498
|
|
|
macrocephaly
|
[NCBI]
|
0.000137394
|
|
|
MDLS
|
[NCBI]
|
0.000135958
|
|
|
MEB
|
[NCBI]
|
0.000132428
|
|
|
COL4A1
|
[NCBI]
|
0.000130599
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
0.00012528
|
|
|
EIF2B3
|
[NCBI]
|
0.00012492
|
|
|
EIF2B1
|
[NCBI]
|
0.00012492
|
|
|
arachnoid cysts, intracranial
|
[NCBI]
|
0.000123494
|
|
|
hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
|
[NCBI]
|
0.000123494
|
|
|
heterotopia, periventricular, ehlers-danlos variant
|
[NCBI]
|
0.000123494
|
|
|
INAD1
|
[NCBI]
|
0.000122321
|
|
|
DCX
|
[NCBI]
|
0.000120521
|
|
|
TH
|
[NCBI]
|
0.000115463
|
|
|
GLUD1
|
[NCBI]
|
0.000115328
|
|
|
pyruvate dehydrogenase phosphatase deficiency
|
[NCBI]
|
0.00011398
|
|
|
MNGIE
|
[NCBI]
|
0.000112102
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
0.000111177
|
|
|
fumarase deficiency
|
[NCBI]
|
0.000106711
|
|
|
mitochondrial complex iii deficiency
|
[NCBI]
|
0.000106711
|
|
|
IDH3G
|
[NCBI]
|
0.000105956
|
|
|
DRPLA
|
[NCBI]
|
0.000102153
|
|
|
proteus syndrome
|
[NCBI]
|
9.90282e-05
|
|
|
amyloidosis vi
|
[NCBI]
|
9.65883e-05
|
|
|
FCDT
|
[NCBI]
|
9.58748e-05
|
|
|
hyperpipecolatemia
|
[NCBI]
|
9.58748e-05
|
|
|
BDNF
|
[NCBI]
|
9.28104e-05
|
|
|
EIF2B4
|
[NCBI]
|
9.15246e-05
|
|
|
BPP
|
[NCBI]
|
8.78638e-05
|
|
|
VEGF
|
[NCBI]
|
8.68672e-05
|
|
|
diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification
|
[NCBI]
|
8.41131e-05
|
|
|
dermatoleukodystrophy
|
[NCBI]
|
8.41131e-05
|
|
|
MCOPCT2
|
[NCBI]
|
8.41131e-05
|
|
|
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
|
[NCBI]
|
8.41131e-05
|
|
|
lissencephaly, familial, with cleft palate and cerebellar hypoplasia
|
[NCBI]
|
8.41131e-05
|
|
|
dystonia with ringbinden
|
[NCBI]
|
8.41131e-05
|
|
|
peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain
|
[NCBI]
|
8.41131e-05
|
|
|
insensitivity to pain with hyperplastic myelinopathy
|
[NCBI]
|
8.41131e-05
|
|
|
keratosis follicularis, dwarfism, and cerebral atrophy
|
[NCBI]
|
8.41131e-05
|
|
|
bowen syndrome of multiple malformations
|
[NCBI]
|
8.41131e-05
|
|
|
necrotizing encephalomyelopathy, subacute, of leigh, adult
|
[NCBI]
|
8.41131e-05
|
|
|
vascular hyalinosis
|
[NCBI]
|
8.41131e-05
|
|
|
photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction
|
[NCBI]
|
8.41131e-05
|
|
|
facial dysmorphism, selective tooth agenesis, and choroid calcification
|
[NCBI]
|
8.41131e-05
|
|
|
granulomas, congenital cerebral
|
[NCBI]
|
8.41131e-05
|
|
|
heterotopia, periventricular, autosomal recessive
|
[NCBI]
|
8.41131e-05
|
|
|
encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts
|
[NCBI]
|
8.41131e-05
|
|
|
marfanoid mental retardation syndrome, autosomal
|
[NCBI]
|
8.41131e-05
|
|
|
encephalopathy, neonatal severe, due to mecp2 mutations
|
[NCBI]
|
8.15164e-05
|
|
|
CASP3
|
[NCBI]
|
7.76588e-05
|
|
|
MLC1
|
[NCBI]
|
7.76588e-05
|
|
|
FCMD
|
[NCBI]
|
6.67886e-05
|
|
|
alexander disease
|
[NCBI]
|
6.44905e-05
|
|
|
PLOSL
|
[NCBI]
|
6.44905e-05
|
|
|
SPG2
|
[NCBI]
|
6.29165e-05
|
|
|
PNMA1
|
[NCBI]
|
6.24418e-05
|
|
|
NUP62
|
[NCBI]
|
6.24418e-05
|
|
|
MAT2A
|
[NCBI]
|
6.24418e-05
|
|
|
ARFGEF2
|
[NCBI]
|
6.24418e-05
|
|
|
SNAP29
|
[NCBI]
|
6.24418e-05
|
|
|
sener syndrome
|
[NCBI]
|
6.1731e-05
|
|
|
revesz syndrome
|
[NCBI]
|
6.1731e-05
|
|
|
LIS3
|
[NCBI]
|
6.1731e-05
|
|
|
choroid plexus calcification and mental retardation
|
[NCBI]
|
6.1731e-05
|
|
|
epilepsy with bilateral occipital calcifications
|
[NCBI]
|
6.1731e-05
|
|
|
epileptic encephalopathy, lennox-gastaut type
|
[NCBI]
|
6.1731e-05
|
|
|
EKD1
|
[NCBI]
|
6.1256e-05
|
|
|
GSD
|
[NCBI]
|
6.00049e-05
|
|
|
NGFB
|
[NCBI]
|
5.79337e-05
|
|
|
PANK2
|
[NCBI]
|
5.77608e-05
|
|
|
lipoid proteinosis of urbach and wiethe
|
[NCBI]
|
5.7363e-05
|
|
|
canavan disease
|
[NCBI]
|
5.7363e-05
|
|
|
PSNP1
|
[NCBI]
|
5.61292e-05
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
5.41837e-05
|
|
|
mitochondrial complex i deficiency
|
[NCBI]
|
5.38137e-05
|
|
|
thalamic degeneration, symmetric infantile
|
[NCBI]
|
5.33394e-05
|
|
|
microcephaly, corpus callosum dysgenesis, and cleft lip/palate
|
[NCBI]
|
5.33394e-05
|
|
|
3-@hydroxyacyl-coa dehydrogenase deficiency
|
[NCBI]
|
5.33394e-05
|
|
|
alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus
|
[NCBI]
|
5.33394e-05
|
|
|
band heterotopia of brain
|
[NCBI]
|
5.33394e-05
|
|
|
schizencephaly
|
[NCBI]
|
5.33394e-05
|
|
|
ceroid storage disease
|
[NCBI]
|
5.33394e-05
|
|
|
DARS2
|
[NCBI]
|
4.86796e-05
|
|
|
HNRPA0
|
[NCBI]
|
4.86796e-05
|
|
|
PNMA2
|
[NCBI]
|
4.86796e-05
|
|
|
CFL1
|
[NCBI]
|
4.86796e-05
|
|
|
LLGL1
|
[NCBI]
|
4.86796e-05
|
|
|
MAB21L1
|
[NCBI]
|
4.86796e-05
|
|
|
haw river syndrome
|
[NCBI]
|
4.79217e-05
|
|
|
nevo syndrome
|
[NCBI]
|
4.79217e-05
|
|
|
HANAC
|
[NCBI]
|
4.79217e-05
|
|
|
LBSL
|
[NCBI]
|
4.79217e-05
|
|
|
glutamate monosodium sensitivity
|
[NCBI]
|
4.79217e-05
|
|
|
AVP
|
[NCBI]
|
4.50268e-05
|
|
|
CADASIL
|
[NCBI]
|
4.44994e-05
|
|
|
melanosis, neurocutaneous
|
[NCBI]
|
4.39164e-05
|
|
|
KRS
|
[NCBI]
|
4.39164e-05
|
|
|
schindler disease, type i
|
[NCBI]
|
4.39164e-05
|
|
|
NDUFV1
|
[NCBI]
|
4.34967e-05
|
|
|
TUBA1A
|
[NCBI]
|
4.34967e-05
|
|
|
ETHE1
|
[NCBI]
|
4.34967e-05
|
|
|
GLUD2
|
[NCBI]
|
4.34967e-05
|
|
|
MAP1A
|
[NCBI]
|
4.34967e-05
|
|
|
NDUFV2
|
[NCBI]
|
4.34967e-05
|
|
|
MJD
|
[NCBI]
|
4.30881e-05
|
|
|
PLP1
|
[NCBI]
|
4.08484e-05
|
|
|
chromosome 18p deletion syndrome
|
[NCBI]
|
4.07429e-05
|
|
|
peroxisomal acyl-coa oxidase deficiency
|
[NCBI]
|
4.07429e-05
|
|
|
encephalopathy, ethylmalonic
|
[NCBI]
|
4.07429e-05
|
|
|
polymicrogyria, bilateral frontoparietal
|
[NCBI]
|
4.07429e-05
|
|
|
MTND4
|
[NCBI]
|
4.04952e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
4.01688e-05
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
3.84973e-05
|
|
|
congenital disorder of glycosylation, type i/iix
|
[NCBI]
|
3.81191e-05
|
|
|
kanzaki disease
|
[NCBI]
|
3.81191e-05
|
|
|
NN
|
[NCBI]
|
3.81191e-05
|
|
|
HGPPS
|
[NCBI]
|
3.81191e-05
|
|
|
vasculopathy, retinal, with cerebral leukodystrophy
|
[NCBI]
|
3.81191e-05
|
|
|
mitochondrial complex ii deficiency
|
[NCBI]
|
3.81191e-05
|
|
|
renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
|
[NCBI]
|
3.81191e-05
|
|
|
ENO1
|
[NCBI]
|
3.76443e-05
|
|
|
YWHAE
|
[NCBI]
|
3.76443e-05
|
|
|
CDG1A
|
[NCBI]
|
3.70542e-05
|
|
|
APBD
|
[NCBI]
|
3.58859e-05
|
|
|
leukodystrophy, adult-onset, autosomal dominant
|
[NCBI]
|
3.58859e-05
|
|
|
lactic acidosis, fatal infantile
|
[NCBI]
|
3.58859e-05
|
|
|
JBTS3
|
[NCBI]
|
3.58859e-05
|
|
|
LSFC
|
[NCBI]
|
3.58859e-05
|
|
|
EMX2
|
[NCBI]
|
3.56613e-05
|
|
|
MPV17
|
[NCBI]
|
3.56613e-05
|
|
|
HADH
|
[NCBI]
|
3.56613e-05
|
|
|
TM4SF2
|
[NCBI]
|
3.56613e-05
|
|
|
EGFR
|
[NCBI]
|
3.49947e-05
|
|
|
myoclonic epilepsy of unverricht and lundborg
|
[NCBI]
|
3.42934e-05
|
|
|
factor v deficiency
|
[NCBI]
|
3.41076e-05
|
|
|
CHAT
|
[NCBI]
|
3.40346e-05
|
|
|
TREM2
|
[NCBI]
|
3.40153e-05
|
|
|
MTTF
|
[NCBI]
|
3.40153e-05
|
|
|
MAPK10
|
[NCBI]
|
3.40153e-05
|
|
|
corpus callosum, agenesis of
|
[NCBI]
|
3.39449e-05
|
|
|
SCA7
|
[NCBI]
|
3.27795e-05
|
|
|
SCO2
|
[NCBI]
|
3.26089e-05
|
|
|
SDHC
|
[NCBI]
|
3.26089e-05
|
|
|
AHI1
|
[NCBI]
|
3.26089e-05
|
|
|
BCS1L
|
[NCBI]
|
3.26089e-05
|
|
|
UBB
|
[NCBI]
|
3.26089e-05
|
|
|
LISX1
|
[NCBI]
|
3.22306e-05
|
|
|
HSD17B4
|
[NCBI]
|
3.13817e-05
|
|
|
spinocerebellar ataxia, 16q22-linked
|
[NCBI]
|
3.06974e-05
|
|
|
gracile syndrome
|
[NCBI]
|
3.06974e-05
|
|
|
SLC1A1
|
[NCBI]
|
3.02934e-05
|
|
|
CYP27A1
|
[NCBI]
|
3.02934e-05
|
|
|
TREX1
|
[NCBI]
|
3.02934e-05
|
|
|
SLE
|
[NCBI]
|
2.95011e-05
|
|
|
CA2
|
[NCBI]
|
2.93163e-05
|
|
|
oculocerebrocutaneous syndrome
|
[NCBI]
|
2.93123e-05
|
|
|
XPF
|
[NCBI]
|
2.93123e-05
|
|
|
antiphospholipid syndrome
|
[NCBI]
|
2.93123e-05
|
|
|
ACHE
|
[NCBI]
|
2.90028e-05
|
|
|
MAT1A
|
[NCBI]
|
2.84299e-05
|
|
|
GAL3ST1
|
[NCBI]
|
2.84299e-05
|
|
|
ACCPN
|
[NCBI]
|
2.80505e-05
|
|
|
methionine adenosyltransferase deficiency
|
[NCBI]
|
2.80505e-05
|
|
|
APOE
|
[NCBI]
|
2.80441e-05
|
|
|
mitochondrial dna depletion syndrome, myopathic form
|
[NCBI]
|
2.68929e-05
|
|
|
HHS
|
[NCBI]
|
2.68929e-05
|
|
|
HCHWAD
|
[NCBI]
|
2.68929e-05
|
|
|
gm1-gangliosidosis, type ii
|
[NCBI]
|
2.68929e-05
|
|
|
HPE2
|
[NCBI]
|
2.68929e-05
|
|
|
KRIT1
|
[NCBI]
|
2.61802e-05
|
|
|
cerebrocostomandibular syndrome
|
[NCBI]
|
2.58246e-05
|
|
|
JME
|
[NCBI]
|
2.58246e-05
|
|
|
d-bifunctional protein deficiency
|
[NCBI]
|
2.58246e-05
|
|
|
NTRK2
|
[NCBI]
|
2.49325e-05
|
|
|
LRS1
|
[NCBI]
|
2.48337e-05
|
|
|
mannosidosis, beta a, lysosomal
|
[NCBI]
|
2.48337e-05
|
|
|
marshall syndrome
|
[NCBI]
|
2.48337e-05
|
|
|
mitochondrial dna depletion syndrome, hepatocerebral form
|
[NCBI]
|
2.48337e-05
|
|
|
molybdenum cofactor deficiency
|
[NCBI]
|
2.48337e-05
|
|
|
MECP2
|
[NCBI]
|
2.47064e-05
|
|
|
pearson marrow-pancreas syndrome
|
[NCBI]
|
2.39105e-05
|
|
|
EPPK
|
[NCBI]
|
2.39105e-05
|
|
|
FXTAS
|
[NCBI]
|
2.39105e-05
|
|
|
LPA
|
[NCBI]
|
2.3832e-05
|
|
|
PCNA
|
[NCBI]
|
2.36227e-05
|
|
|
pycnodysostosis
|
[NCBI]
|
2.3047e-05
|
|
|
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to
|
[NCBI]
|
2.3047e-05
|
|
|
pick disease of brain
|
[NCBI]
|
2.3047e-05
|
|
|
mulibrey nanism
|
[NCBI]
|
2.3047e-05
|
|
|
PAFAH1B1
|
[NCBI]
|
2.28485e-05
|
|
|
PVR
|
[NCBI]
|
2.28485e-05
|
|
|
TCOF1
|
[NCBI]
|
2.23935e-05
|
|
|
glutaric acidemia i
|
[NCBI]
|
2.22366e-05
|
|
|
ACADS
|
[NCBI]
|
2.15464e-05
|
|
|
crouzon syndrome
|
[NCBI]
|
2.14736e-05
|
|
|
BFLS
|
[NCBI]
|
2.14736e-05
|
|
|
ACVRL1
|
[NCBI]
|
2.11506e-05
|
|
|
phenylketonuria ii
|
[NCBI]
|
2.11506e-05
|
|
|
APP
|
[NCBI]
|
2.0969e-05
|
|
|
DLB
|
[NCBI]
|
2.07534e-05
|
|
|
diabetes insipidus, neurohypophyseal type
|
[NCBI]
|
2.00717e-05
|
|
|
stroke, ischemic
|
[NCBI]
|
2.00717e-05
|
|
|
CLN2
|
[NCBI]
|
2.00717e-05
|
|
|
GCDH
|
[NCBI]
|
2.00579e-05
|
|
|
ARX
|
[NCBI]
|
1.97214e-05
|
|
|
TS
|
[NCBI]
|
1.96484e-05
|
|
|
PBD
|
[NCBI]
|
1.94253e-05
|
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
1.94253e-05
|
|
|
GAMT
|
[NCBI]
|
1.87822e-05
|
|
|
fucosidosis
|
[NCBI]
|
1.87822e-05
|
|
|
FMR1
|
[NCBI]
|
1.86188e-05
|
|
|
CEACAM5
|
[NCBI]
|
1.84624e-05
|
|
|
GAN1
|
[NCBI]
|
1.82258e-05
|
|
|
SCA1
|
[NCBI]
|
1.81971e-05
|
|
|
MPO
|
[NCBI]
|
1.80463e-05
|
|
|
AQP1
|
[NCBI]
|
1.79335e-05
|
|
|
SLC18A3
|
[NCBI]
|
1.79335e-05
|
|
|
CLN1
|
[NCBI]
|
1.76679e-05
|
|
|
AEZ
|
[NCBI]
|
1.76679e-05
|
|
|
ENG
|
[NCBI]
|
1.71604e-05
|
|
|
PRNP
|
[NCBI]
|
1.70871e-05
|
|
|
MAG
|
[NCBI]
|
1.68482e-05
|
|
|
GCE
|
[NCBI]
|
1.6625e-05
|
|
|
OFD1
|
[NCBI]
|
1.6625e-05
|
|
|
ETM1
|
[NCBI]
|
1.6625e-05
|
|
|
FFI
|
[NCBI]
|
1.61907e-05
|
|
|
PTH
|
[NCBI]
|
1.61222e-05
|
|
|
MDD
|
[NCBI]
|
1.5832e-05
|
|
|
OKS
|
[NCBI]
|
1.5668e-05
|
|
|
FH
|
[NCBI]
|
1.53867e-05
|
|
|
DYX1
|
[NCBI]
|
1.52182e-05
|
|
|
LCA1
|
[NCBI]
|
1.52182e-05
|
|
|
myoclonic epilepsy of lafora
|
[NCBI]
|
1.43698e-05
|
|
|
PKS
|
[NCBI]
|
1.43698e-05
|
|
|
methemoglobinemia due to deficiency of methemoglobin reductase
|
[NCBI]
|
1.42668e-05
|
|
|
glycogen storage disease vii
|
[NCBI]
|
1.39691e-05
|
|
|
CMTX1
|
[NCBI]
|
1.32103e-05
|
|
|
ODDD
|
[NCBI]
|
1.32103e-05
|
|
|
PAX6
|
[NCBI]
|
1.313e-05
|
|
|
CHAC
|
[NCBI]
|
1.28506e-05
|
|
|
FIH
|
[NCBI]
|
1.28506e-05
|
|
|
ABCD1
|
[NCBI]
|
1.22709e-05
|
|
|
protein c deficiency, congenital thrombotic disease due to
|
[NCBI]
|
1.22709e-05
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
1.22637e-05
|
|
|
MBP
|
[NCBI]
|
1.20921e-05
|
|
|
ARSA
|
[NCBI]
|
1.20045e-05
|
|
|
PMD
|
[NCBI]
|
1.18575e-05
|
|
|
IP
|
[NCBI]
|
1.12518e-05
|
|
|
VIM
|
[NCBI]
|
1.05784e-05
|
|
|
GCPS
|
[NCBI]
|
1.0363e-05
|
|
|
CMTC
|
[NCBI]
|
1.00934e-05
|
|
|
SLC6A3
|
[NCBI]
|
1.00487e-05
|
|
|
SMAX1
|
[NCBI]
|
9.98926e-06
|
|
|
GJB1
|
[NCBI]
|
9.95781e-06
|
|
|
GAPDH
|
[NCBI]
|
9.70618e-06
|
|
|
ACADM
|
[NCBI]
|
9.5724e-06
|
|
|
KSS
|
[NCBI]
|
9.09465e-06
|
|
|
ADHD
|
[NCBI]
|
9.08999e-06
|
|
|
PON1
|
[NCBI]
|
8.45164e-06
|
|
|
DM2
|
[NCBI]
|
8.40808e-06
|
|
|
AFP
|
[NCBI]
|
8.14958e-06
|
|
|
HGF
|
[NCBI]
|
8.13123e-06
|
|
|
BCHE
|
[NCBI]
|
7.63332e-06
|
|
|
CDK4
|
[NCBI]
|
7.63332e-06
|
|
|
CCM
|
[NCBI]
|
7.3866e-06
|
|
|
CRH
|
[NCBI]
|
7.15268e-06
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
7.01364e-06
|
|
|
MUC1
|
[NCBI]
|
6.86619e-06
|
|
|
WS1
|
[NCBI]
|
6.83411e-06
|
|
|
RSTS
|
[NCBI]
|
6.65901e-06
|
|
|
ADCYAP1
|
[NCBI]
|
6.37862e-06
|
|
|
PD
|
[NCBI]
|
6.01376e-06
|
|
|
TCOF
|
[NCBI]
|
5.84521e-06
|
|
|
AMC
|
[NCBI]
|
5.54619e-06
|
|
|
PEDF
|
[NCBI]
|
5.26077e-06
|
|
|
PSACH
|
[NCBI]
|
4.85746e-06
|
|
|
HGPS
|
[NCBI]
|
4.60359e-06
|
|
|
LPI
|
[NCBI]
|
4.48096e-06
|
|
|
SCA2
|
[NCBI]
|
4.24395e-06
|
|
|
CAT
|
[NCBI]
|
3.87108e-06
|
|
|
PYY
|
[NCBI]
|
3.61977e-06
|
|
|
ALK
|
[NCBI]
|
3.17116e-06
|
|
|
HHT
|
[NCBI]
|
2.93871e-06
|
|
|
phenylketonuria
|
[NCBI]
|
2.84837e-06
|
|
|
CP
|
[NCBI]
|
2.84837e-06
|
|
|
RB1
|
[NCBI]
|
2.74725e-06
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
2.53695e-06
|
|
|
HD
|
[NCBI]
|
2.04123e-06
|
|
|
ABCC1
|
[NCBI]
|
1.85158e-06
|
|
|
GTS
|
[NCBI]
|
1.67278e-06
|
|
|
NPY
|
[NCBI]
|
1.65177e-06
|
|
|
wilson disease
|
[NCBI]
|
1.60346e-06
|
|
|
TPO
|
[NCBI]
|
1.43825e-06
|
|
|
TNF
|
[NCBI]
|
1.40919e-06
|
|
|
AD
|
[NCBI]
|
1.13065e-06
|
|
|
ACH
|
[NCBI]
|
1.10622e-06
|
|
|
MFS
|
[NCBI]
|
1.07187e-06
|
|
|
POMC
|
[NCBI]
|
1.0476e-06
|
|
|
RTT
|
[NCBI]
|
1.04559e-06
|
|
|
NF1
|
[NCBI]
|
1.03563e-06
|
|
|
krabbe disease
|
[NCBI]
|
1.02082e-06
|
|
|
GNRH1
|
[NCBI]
|
8.77728e-07
|
|
|
PRL
|
[NCBI]
|
8.08286e-07
|
|
|
SOD2
|
[NCBI]
|
5.38567e-07
|
|
|
FTD
|
[NCBI]
|
3.82582e-07
|
|
|
EIG
|
[NCBI]
|
1.6228e-07
|
|
|
CD
|
[NCBI]
|
1.30974e-07
|
|
|
VIP
|
[NCBI]
|
1.30462e-07
|
|
|
EPO
|
[NCBI]
|
6.75616e-08
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
5.32204e-08
|
|
|
TSD
|
[NCBI]
|
4.70108e-08
|
|
|
TTR
|
[NCBI]
|
3.73113e-08
|
|
|
BCNS
|
[NCBI]
|
1.70971e-08
|
|
|
APOB
|
[NCBI]
|
1.66961e-08
|
|
|
leber optic atrophy
|
[NCBI]
|
1.19307e-08
|
|
|
GDNF
|
[NCBI]
|
4.91986e-09
|
|