|
OMIM |
Link |
Information gain |
01 |
|
AIC
|
[NCBI]
|
0.00244335
|
|
|
PPR
|
[NCBI]
|
0.00243833
|
|
|
convulsions, benign familial infantile, 1
|
[NCBI]
|
0.00157685
|
|
|
EKD1
|
[NCBI]
|
0.00157262
|
|
|
deafness, congenital, and onychodystrophy, recessive form
|
[NCBI]
|
0.00119261
|
|
|
methionine malabsorption syndrome
|
[NCBI]
|
0.00111331
|
|
|
RA
|
[NCBI]
|
0.0008469
|
|
|
fatty metamorphosis of viscera
|
[NCBI]
|
0.00084647
|
|
|
hennekam lymphangiectasia-lymphedema syndrome
|
[NCBI]
|
0.00084647
|
|
|
folic acid, transport defect involving
|
[NCBI]
|
0.000805364
|
|
|
BDNF
|
[NCBI]
|
0.000788492
|
|
|
hyperphosphatasia with mental retardation
|
[NCBI]
|
0.000772316
|
|
|
armfield x-linked mental retardation syndrome
|
[NCBI]
|
0.000772316
|
|
|
epilepsy, partial, with pericentral spikes
|
[NCBI]
|
0.000772316
|
|
|
ETL2
|
[NCBI]
|
0.000708246
|
|
|
ZLS
|
[NCBI]
|
0.000708246
|
|
|
FEB1
|
[NCBI]
|
0.000681953
|
|
|
NPY
|
[NCBI]
|
0.000681285
|
|
|
EBN1
|
[NCBI]
|
0.000672913
|
|
|
schimmelpenning-feuerstein-mims syndrome
|
[NCBI]
|
0.000657866
|
|
|
EPD
|
[NCBI]
|
0.000639499
|
|
|
WHS
|
[NCBI]
|
0.000580739
|
|
|
AS
|
[NCBI]
|
0.000568868
|
|
|
parkinsonism, early-onset, with mental retardation
|
[NCBI]
|
0.000555508
|
|
|
AMRF
|
[NCBI]
|
0.000555508
|
|
|
polymicrogyria, unilateral
|
[NCBI]
|
0.000555508
|
|
|
electroencephalogram, low-voltage
|
[NCBI]
|
0.000474393
|
|
|
adrenal unresponsiveness to acth
|
[NCBI]
|
0.000474393
|
|
|
HHF7
|
[NCBI]
|
0.000474393
|
|
|
alopecia-mental retardation syndrome 1
|
[NCBI]
|
0.000474393
|
|
|
megalencephaly
|
[NCBI]
|
0.000474393
|
|
|
TS
|
[NCBI]
|
0.000468905
|
|
|
ICCA
|
[NCBI]
|
0.000422121
|
|
|
dandy-walker malformation with mental retardation, basal ganglia disease, and seizures
|
[NCBI]
|
0.000422121
|
|
|
carnosinemia
|
[NCBI]
|
0.000383548
|
|
|
EFMR
|
[NCBI]
|
0.000383548
|
|
|
MCDU
|
[NCBI]
|
0.000383548
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
0.000365852
|
|
|
d-glyceric acidemia
|
[NCBI]
|
0.000327869
|
|
|
CLN4B
|
[NCBI]
|
0.000327869
|
|
|
ECA1
|
[NCBI]
|
0.000327869
|
|
|
ichthyosis follicularis, atrichia, and photophobia syndrome
|
[NCBI]
|
0.000327869
|
|
|
ACHE
|
[NCBI]
|
0.000311907
|
|
|
oculocerebral syndrome with hypopigmentation
|
[NCBI]
|
0.000306484
|
|
|
zunich neuroectodermal syndrome
|
[NCBI]
|
0.000300758
|
|
|
HYPX
|
[NCBI]
|
0.000287933
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
0.000256985
|
|
|
microcephaly, autosomal dominant
|
[NCBI]
|
0.000243826
|
|
|
MYMY1
|
[NCBI]
|
0.000231863
|
|
|
LKS
|
[NCBI]
|
0.000229527
|
|
|
GFAP
|
[NCBI]
|
0.000225349
|
|
|
convulsive disorder, familial, with prenatal or early onset
|
[NCBI]
|
0.000181176
|
|
|
VEGF
|
[NCBI]
|
0.000155825
|
|
|
HOMG3
|
[NCBI]
|
0.000154584
|
|
|
KCNQ2
|
[NCBI]
|
0.000146925
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
0.000144263
|
|
|
CRH
|
[NCBI]
|
0.000143738
|
|
|
PKDTS
|
[NCBI]
|
0.000136352
|
|
|
alexander disease
|
[NCBI]
|
0.000135817
|
|
|
CCM
|
[NCBI]
|
0.000129849
|
|
|
NGFB
|
[NCBI]
|
0.000127048
|
|
|
seizures, benign familial neonatal-infantile
|
[NCBI]
|
0.000126809
|
|
|
biotinidase deficiency
|
[NCBI]
|
0.000118796
|
|
|
LQT1
|
[NCBI]
|
0.000117978
|
|
|
CDKL5
|
[NCBI]
|
0.000114253
|
|
|
TNF
|
[NCBI]
|
0.000112255
|
|
|
GAD1
|
[NCBI]
|
0.000110933
|
|
|
PNKD1
|
[NCBI]
|
0.000110685
|
|
|
microcephaly with spastic quadriplegia
|
[NCBI]
|
0.000108614
|
|
|
EIG
|
[NCBI]
|
0.000104253
|
|
|
aneurysm, intracranial berry, 1
|
[NCBI]
|
0.000101091
|
|
|
LISX1
|
[NCBI]
|
0.000100543
|
|
|
SLC2A1
|
[NCBI]
|
9.64246e-05
|
|
|
GCCD1
|
[NCBI]
|
9.41359e-05
|
|
|
light fixation seizure syndrome
|
[NCBI]
|
9.05639e-05
|
|
|
mental retardation associated with psoriasis
|
[NCBI]
|
9.05639e-05
|
|
|
copper deficiency, familial benign
|
[NCBI]
|
9.05639e-05
|
|
|
dysmyelination with jaundice
|
[NCBI]
|
9.05639e-05
|
|
|
megalencephaly with dysmyelination
|
[NCBI]
|
9.05639e-05
|
|
|
hyperphosphatemia, polyuria, and seizures
|
[NCBI]
|
9.05639e-05
|
|
|
glycosylphosphatidylinositol deficiency
|
[NCBI]
|
9.05639e-05
|
|
|
tachycardia, hypertension, microphthalmia, and hyperglycinuria
|
[NCBI]
|
9.05639e-05
|
|
|
CDG1L
|
[NCBI]
|
9.05639e-05
|
|
|
cerebral malformation, seizures, hypertrichosis, and overlapping fingers
|
[NCBI]
|
9.05639e-05
|
|
|
microcephaly with simplified gyral pattern
|
[NCBI]
|
9.05639e-05
|
|
|
heterotopia, periventricular, autosomal recessive
|
[NCBI]
|
9.05639e-05
|
|
|
mental retardation, keratoconus, febrile seizures, and sinoatrial block
|
[NCBI]
|
9.05639e-05
|
|
|
cortical dysplasia-focal epilepsy syndrome
|
[NCBI]
|
9.05639e-05
|
|
|
STXBP1
|
[NCBI]
|
8.89906e-05
|
|
|
myoclonic epilepsy, neonatal, with suppression-burst pattern
|
[NCBI]
|
8.88282e-05
|
|
|
coenzyme q10 deficiency
|
[NCBI]
|
8.43019e-05
|
|
|
infantile spasm syndrome, x-linked
|
[NCBI]
|
8.22672e-05
|
|
|
GPR98
|
[NCBI]
|
7.86443e-05
|
|
|
FHM2
|
[NCBI]
|
7.85653e-05
|
|
|
AVP
|
[NCBI]
|
7.74545e-05
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
7.52674e-05
|
|
|
SCN2A
|
[NCBI]
|
7.50065e-05
|
|
|
CLN2
|
[NCBI]
|
7.37449e-05
|
|
|
GRIA3
|
[NCBI]
|
7.19453e-05
|
|
|
hemophagocytic lymphohistiocytosis, familial, 1
|
[NCBI]
|
7.15901e-05
|
|
|
GRIA1
|
[NCBI]
|
6.93028e-05
|
|
|
MLC
|
[NCBI]
|
6.83309e-05
|
|
|
mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor
|
[NCBI]
|
6.8152e-05
|
|
|
CDG1E
|
[NCBI]
|
6.8152e-05
|
|
|
hypervitaminosis a, susceptibility to
|
[NCBI]
|
6.8152e-05
|
|
|
hyper-beta-alaninemia
|
[NCBI]
|
6.8152e-05
|
|
|
mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia
|
[NCBI]
|
6.8152e-05
|
|
|
fibromatosis, gingival, with hypertrichosis and mental retardation
|
[NCBI]
|
6.8152e-05
|
|
|
corpus callosum, agenesis of, with abnormal genitalia
|
[NCBI]
|
6.8152e-05
|
|
|
aortic arch interruption, facial palsy, and retinal coloboma
|
[NCBI]
|
6.8152e-05
|
|
|
dk phocomelia syndrome
|
[NCBI]
|
6.8152e-05
|
|
|
devriendt syndrome
|
[NCBI]
|
6.8152e-05
|
|
|
HMI
|
[NCBI]
|
6.57514e-05
|
|
|
AD
|
[NCBI]
|
6.54552e-05
|
|
|
menkes disease
|
[NCBI]
|
6.53727e-05
|
|
|
EGFR
|
[NCBI]
|
6.41963e-05
|
|
|
citrullinemia, classic
|
[NCBI]
|
6.37592e-05
|
|
|
CHRNA4
|
[NCBI]
|
6.1326e-05
|
|
|
ATP1A2
|
[NCBI]
|
5.97595e-05
|
|
|
GRIA2
|
[NCBI]
|
5.97595e-05
|
|
|
FEB4
|
[NCBI]
|
5.97306e-05
|
|
|
alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus
|
[NCBI]
|
5.97306e-05
|
|
|
band heterotopia of brain
|
[NCBI]
|
5.97306e-05
|
|
|
alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism
|
[NCBI]
|
5.97306e-05
|
|
|
macrocephaly
|
[NCBI]
|
5.97306e-05
|
|
|
HOMG4
|
[NCBI]
|
5.97306e-05
|
|
|
KCNMB3
|
[NCBI]
|
5.82357e-05
|
|
|
SLC13A1
|
[NCBI]
|
5.82357e-05
|
|
|
CACNG3
|
[NCBI]
|
5.82357e-05
|
|
|
ADARB1
|
[NCBI]
|
5.82357e-05
|
|
|
PIGM
|
[NCBI]
|
5.82357e-05
|
|
|
SV2A
|
[NCBI]
|
5.82357e-05
|
|
|
GNG3
|
[NCBI]
|
5.82357e-05
|
|
|
ARFGEF2
|
[NCBI]
|
5.82357e-05
|
|
|
SLC5A11
|
[NCBI]
|
5.82357e-05
|
|
|
CACNG4
|
[NCBI]
|
5.82357e-05
|
|
|
FIH
|
[NCBI]
|
5.7171e-05
|
|
|
PTH
|
[NCBI]
|
5.68185e-05
|
|
|
brachycephaly, deafness, cataract, microstomia, and mental retardation
|
[NCBI]
|
5.42831e-05
|
|
|
paroxysmal tonic upgaze, benign childhood, with ataxia
|
[NCBI]
|
5.42831e-05
|
|
|
haw river syndrome
|
[NCBI]
|
5.42831e-05
|
|
|
NSIAD
|
[NCBI]
|
5.42831e-05
|
|
|
digitorenocerebral syndrome
|
[NCBI]
|
5.42831e-05
|
|
|
mental retardation with epilepsy and characteristic facies
|
[NCBI]
|
5.42831e-05
|
|
|
alopecia-epilepsy-oligophrenia syndrome of moynahan
|
[NCBI]
|
5.42831e-05
|
|
|
ATCAY
|
[NCBI]
|
5.42831e-05
|
|
|
gurrieri syndrome
|
[NCBI]
|
5.42831e-05
|
|
|
SMEI
|
[NCBI]
|
5.39967e-05
|
|
|
PENK
|
[NCBI]
|
5.23743e-05
|
|
|
PDYN
|
[NCBI]
|
5.23743e-05
|
|
|
ZS
|
[NCBI]
|
5.14939e-05
|
|
|
PAFAH1B1
|
[NCBI]
|
5.13819e-05
|
|
|
phosphoglycerate dehydrogenase deficiency
|
[NCBI]
|
5.02479e-05
|
|
|
3-@methylcrotonyl-coa carboxylase 2 deficiency
|
[NCBI]
|
5.02479e-05
|
|
|
paroxysmal extreme pain disorder
|
[NCBI]
|
5.02479e-05
|
|
|
JAE
|
[NCBI]
|
4.70446e-05
|
|
|
HOMG2
|
[NCBI]
|
4.70446e-05
|
|
|
polymicrogyria, bilateral frontoparietal
|
[NCBI]
|
4.70446e-05
|
|
|
CLN3
|
[NCBI]
|
4.67856e-05
|
|
|
DAP
|
[NCBI]
|
4.63324e-05
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
4.62166e-05
|
|
|
EPHX1
|
[NCBI]
|
4.561e-05
|
|
|
PCNA
|
[NCBI]
|
4.55356e-05
|
|
|
ARX
|
[NCBI]
|
4.4915e-05
|
|
|
RTT
|
[NCBI]
|
4.47272e-05
|
|
|
serine/threonine protein kinase 21
|
[NCBI]
|
4.44834e-05
|
|
|
EGR4
|
[NCBI]
|
4.44834e-05
|
|
|
CNTNAP2
|
[NCBI]
|
4.44834e-05
|
|
|
CACNA1G
|
[NCBI]
|
4.44834e-05
|
|
|
CACNG2
|
[NCBI]
|
4.44834e-05
|
|
|
SCN2B
|
[NCBI]
|
4.44834e-05
|
|
|
FZD9
|
[NCBI]
|
4.44834e-05
|
|
|
PCMT1
|
[NCBI]
|
4.44834e-05
|
|
|
PHGDH
|
[NCBI]
|
4.44834e-05
|
|
|
ACP2
|
[NCBI]
|
4.44834e-05
|
|
|
GLP1R
|
[NCBI]
|
4.44834e-05
|
|
|
MRX49
|
[NCBI]
|
4.44834e-05
|
|
|
SLC30A3
|
[NCBI]
|
4.44834e-05
|
|
|
monosomy 1p36 syndrome
|
[NCBI]
|
4.43909e-05
|
|
|
EJM1
|
[NCBI]
|
4.43909e-05
|
|
|
hydroxyacyl-coa dehydrogenase ii deficiency
|
[NCBI]
|
4.43909e-05
|
|
|
CCM3
|
[NCBI]
|
4.43909e-05
|
|
|
alternating hemiplegia of childhood
|
[NCBI]
|
4.43909e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
4.25459e-05
|
|
|
DPYD
|
[NCBI]
|
4.23726e-05
|
|
|
WARBM
|
[NCBI]
|
4.2128e-05
|
|
|
FCDT
|
[NCBI]
|
4.2128e-05
|
|
|
lactic acidosis, fatal infantile
|
[NCBI]
|
4.2128e-05
|
|
|
creatine deficiency syndrome, x-linked
|
[NCBI]
|
4.2128e-05
|
|
|
adenylosuccinase deficiency
|
[NCBI]
|
4.2128e-05
|
|
|
LIS1
|
[NCBI]
|
4.01571e-05
|
|
|
epilepsy, nocturnal frontal lobe, type 1
|
[NCBI]
|
4.01571e-05
|
|
|
acth deficiency
|
[NCBI]
|
4.01571e-05
|
|
|
GABRA4
|
[NCBI]
|
3.93103e-05
|
|
|
ALDH7A1
|
[NCBI]
|
3.93103e-05
|
|
|
ST8SIA1
|
[NCBI]
|
3.93103e-05
|
|
|
ALG9
|
[NCBI]
|
3.93103e-05
|
|
|
SNN
|
[NCBI]
|
3.93103e-05
|
|
|
DPM1
|
[NCBI]
|
3.93103e-05
|
|
|
MCCC2
|
[NCBI]
|
3.93103e-05
|
|
|
LETM1
|
[NCBI]
|
3.93103e-05
|
|
|
DGKD
|
[NCBI]
|
3.93103e-05
|
|
|
MCCC1
|
[NCBI]
|
3.93103e-05
|
|
|
GABRD
|
[NCBI]
|
3.93103e-05
|
|
|
SST
|
[NCBI]
|
3.86305e-05
|
|
|
MCPH5
|
[NCBI]
|
3.8413e-05
|
|
|
hyperprolinemia, type ii
|
[NCBI]
|
3.8413e-05
|
|
|
HHF6
|
[NCBI]
|
3.8413e-05
|
|
|
PCS
|
[NCBI]
|
3.8413e-05
|
|
|
BPP
|
[NCBI]
|
3.8413e-05
|
|
|
MAP2
|
[NCBI]
|
3.73272e-05
|
|
|
hyperlysinemia
|
[NCBI]
|
3.685e-05
|
|
|
HRD
|
[NCBI]
|
3.685e-05
|
|
|
sturge-weber syndrome
|
[NCBI]
|
3.685e-05
|
|
|
DBI
|
[NCBI]
|
3.68086e-05
|
|
|
NPC1
|
[NCBI]
|
3.61105e-05
|
|
|
SYN1
|
[NCBI]
|
3.59609e-05
|
|
|
SLC12A2
|
[NCBI]
|
3.59609e-05
|
|
|
CUL4B
|
[NCBI]
|
3.59609e-05
|
|
|
GS2
|
[NCBI]
|
3.5435e-05
|
|
|
3-@methylcrotonyl-coa carboxylase 1 deficiency
|
[NCBI]
|
3.41434e-05
|
|
|
BID
|
[NCBI]
|
3.34776e-05
|
|
|
ALDH4A1
|
[NCBI]
|
3.34776e-05
|
|
|
CACNB4
|
[NCBI]
|
3.34776e-05
|
|
|
ALDH5A1
|
[NCBI]
|
3.34776e-05
|
|
|
CDK5R1
|
[NCBI]
|
3.34776e-05
|
|
|
GJD2
|
[NCBI]
|
3.34776e-05
|
|
|
HPE2
|
[NCBI]
|
3.29559e-05
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
3.27113e-05
|
|
|
mowat-wilson syndrome
|
[NCBI]
|
3.18578e-05
|
|
|
PFM
|
[NCBI]
|
3.18578e-05
|
|
|
JME
|
[NCBI]
|
3.18578e-05
|
|
|
d-bifunctional protein deficiency
|
[NCBI]
|
3.18578e-05
|
|
|
TAC1
|
[NCBI]
|
3.15043e-05
|
|
|
CHRNB2
|
[NCBI]
|
3.15043e-05
|
|
|
KCNQ3
|
[NCBI]
|
3.15043e-05
|
|
|
HTR2C
|
[NCBI]
|
3.15043e-05
|
|
|
ASPM
|
[NCBI]
|
3.15043e-05
|
|
|
MTTH
|
[NCBI]
|
3.15043e-05
|
|
|
molybdenum cofactor deficiency
|
[NCBI]
|
3.08371e-05
|
|
|
EPPK
|
[NCBI]
|
2.98841e-05
|
|
|
CFTD
|
[NCBI]
|
2.98841e-05
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
2.98841e-05
|
|
|
succinic semialdehyde dehydrogenase deficiency
|
[NCBI]
|
2.98841e-05
|
|
|
galactokinase deficiency
|
[NCBI]
|
2.98841e-05
|
|
|
heterotopia, periventricular, x-linked dominant
|
[NCBI]
|
2.98841e-05
|
|
|
TBCE
|
[NCBI]
|
2.98682e-05
|
|
|
MLYCD
|
[NCBI]
|
2.98682e-05
|
|
|
SKI
|
[NCBI]
|
2.98682e-05
|
|
|
NHLRC1
|
[NCBI]
|
2.98682e-05
|
|
|
MAPK10
|
[NCBI]
|
2.98682e-05
|
|
|
MVA
|
[NCBI]
|
2.89907e-05
|
|
|
septooptic dysplasia
|
[NCBI]
|
2.89907e-05
|
|
|
SLC17A7
|
[NCBI]
|
2.84716e-05
|
|
|
JUN
|
[NCBI]
|
2.84716e-05
|
|
|
MCPH1
|
[NCBI]
|
2.81504e-05
|
|
|
GEFS+
|
[NCBI]
|
2.81504e-05
|
|
|
holocarboxylase synthetase deficiency
|
[NCBI]
|
2.81504e-05
|
|
|
JLNS1
|
[NCBI]
|
2.73576e-05
|
|
|
BFLS
|
[NCBI]
|
2.73576e-05
|
|
|
SLC1A3
|
[NCBI]
|
2.72542e-05
|
|
|
OPHN1
|
[NCBI]
|
2.72542e-05
|
|
|
SRF
|
[NCBI]
|
2.6893e-05
|
|
|
CCK
|
[NCBI]
|
2.68643e-05
|
|
|
ARVD1
|
[NCBI]
|
2.66076e-05
|
|
|
SLC1A1
|
[NCBI]
|
2.61758e-05
|
|
|
GALK1
|
[NCBI]
|
2.61758e-05
|
|
|
MTTL1
|
[NCBI]
|
2.5513e-05
|
|
|
EAOH
|
[NCBI]
|
2.52198e-05
|
|
|
CNR1
|
[NCBI]
|
2.52084e-05
|
|
|
KCNA1
|
[NCBI]
|
2.52084e-05
|
|
|
MSX2
|
[NCBI]
|
2.52084e-05
|
|
|
AAA
|
[NCBI]
|
2.45756e-05
|
|
|
acyl-coa dehydrogenase, medium-chain, deficiency of
|
[NCBI]
|
2.45756e-05
|
|
|
GABRB3
|
[NCBI]
|
2.43319e-05
|
|
|
CD
|
[NCBI]
|
2.40832e-05
|
|
|
BGS
|
[NCBI]
|
2.39607e-05
|
|
|
ACLS
|
[NCBI]
|
2.33729e-05
|
|
|
MRXHF1
|
[NCBI]
|
2.33729e-05
|
|
|
GLUD1
|
[NCBI]
|
2.27939e-05
|
|
|
LGI1
|
[NCBI]
|
2.27939e-05
|
|
|
RAB27A
|
[NCBI]
|
2.27939e-05
|
|
|
CYP27B1
|
[NCBI]
|
2.27939e-05
|
|
|
SLC6A8
|
[NCBI]
|
2.21117e-05
|
|
|
KRIT1
|
[NCBI]
|
2.21117e-05
|
|
|
ZEB2
|
[NCBI]
|
2.21117e-05
|
|
|
NPHP1
|
[NCBI]
|
2.12537e-05
|
|
|
gaucher disease, type iii
|
[NCBI]
|
2.0774e-05
|
|
|
GAD2
|
[NCBI]
|
2.03269e-05
|
|
|
UBE3A
|
[NCBI]
|
2.03269e-05
|
|
|
NR4A3
|
[NCBI]
|
2.03269e-05
|
|
|
tay-sachs disease, ab variant
|
[NCBI]
|
2.03269e-05
|
|
|
HSPB1
|
[NCBI]
|
2.03269e-05
|
|
|
FHM1
|
[NCBI]
|
2.03118e-05
|
|
|
MBP
|
[NCBI]
|
2.01916e-05
|
|
|
IP
|
[NCBI]
|
2.01395e-05
|
|
|
myoclonic epilepsy of lafora
|
[NCBI]
|
1.98659e-05
|
|
|
PKS
|
[NCBI]
|
1.98659e-05
|
|
|
MAP1B
|
[NCBI]
|
1.98027e-05
|
|
|
TH
|
[NCBI]
|
1.9311e-05
|
|
|
XIST
|
[NCBI]
|
1.93077e-05
|
|
|
DFFB
|
[NCBI]
|
1.93077e-05
|
|
|
HCH
|
[NCBI]
|
1.90194e-05
|
|
|
MTND5
|
[NCBI]
|
1.88388e-05
|
|
|
MDLS
|
[NCBI]
|
1.86169e-05
|
|
|
CHAC
|
[NCBI]
|
1.82274e-05
|
|
|
hypophosphatasia, infantile
|
[NCBI]
|
1.82274e-05
|
|
|
APTX
|
[NCBI]
|
1.79701e-05
|
|
|
HDC
|
[NCBI]
|
1.77855e-05
|
|
|
MECP2
|
[NCBI]
|
1.75291e-05
|
|
|
KSS
|
[NCBI]
|
1.75043e-05
|
|
|
phenylketonuria ii
|
[NCBI]
|
1.71802e-05
|
|
|
SLC1A2
|
[NCBI]
|
1.68109e-05
|
|
|
SLC18A2
|
[NCBI]
|
1.68109e-05
|
|
|
ALPL
|
[NCBI]
|
1.68109e-05
|
|
|
PTEN
|
[NCBI]
|
1.67885e-05
|
|
|
KCNJ11
|
[NCBI]
|
1.64569e-05
|
|
|
TRPS2
|
[NCBI]
|
1.61249e-05
|
|
|
amyloidosis vi
|
[NCBI]
|
1.58928e-05
|
|
|
PHS
|
[NCBI]
|
1.58087e-05
|
|
|
sandhoff disease
|
[NCBI]
|
1.58087e-05
|
|
|
CSTB
|
[NCBI]
|
1.57903e-05
|
|
|
PSEN1
|
[NCBI]
|
1.57513e-05
|
|
|
PWS
|
[NCBI]
|
1.49309e-05
|
|
|
NFKB1
|
[NCBI]
|
1.48806e-05
|
|
|
GDNF
|
[NCBI]
|
1.46496e-05
|
|
|
AVPR2
|
[NCBI]
|
1.43254e-05
|
|
|
AQP4
|
[NCBI]
|
1.43254e-05
|
|
|
ASPA
|
[NCBI]
|
1.3558e-05
|
|
|
FLNA
|
[NCBI]
|
1.3558e-05
|
|
|
SHOX
|
[NCBI]
|
1.3558e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
1.33074e-05
|
|
|
FANCA
|
[NCBI]
|
1.30844e-05
|
|
|
POLG
|
[NCBI]
|
1.30844e-05
|
|
|
costello syndrome
|
[NCBI]
|
1.30623e-05
|
|
|
FCMD
|
[NCBI]
|
1.23602e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
1.22154e-05
|
|
|
HHF2
|
[NCBI]
|
1.1704e-05
|
|
|
maple syrup urine disease
|
[NCBI]
|
1.07e-05
|
|
|
CLS
|
[NCBI]
|
1.07e-05
|
|
|
PC
|
[NCBI]
|
1.03988e-05
|
|
|
ND
|
[NCBI]
|
1.01455e-05
|
|
|
AMC
|
[NCBI]
|
9.96787e-06
|
|
|
CD
|
[NCBI]
|
9.76141e-06
|
|
|
FAAH
|
[NCBI]
|
9.63653e-06
|
|
|
CHH
|
[NCBI]
|
9.45546e-06
|
|
|
OXT
|
[NCBI]
|
9.35346e-06
|
|
|
PTN
|
[NCBI]
|
9.08162e-06
|
|
|
ABCC8
|
[NCBI]
|
9.08162e-06
|
|
|
protein c deficiency, congenital thrombotic disease due to
|
[NCBI]
|
8.69339e-06
|
|
|
ASS
|
[NCBI]
|
8.09324e-06
|
|
|
UCP2
|
[NCBI]
|
8.09324e-06
|
|
|
CCD
|
[NCBI]
|
7.53807e-06
|
|
|
APOE
|
[NCBI]
|
7.24618e-06
|
|
|
VIP
|
[NCBI]
|
7.18025e-06
|
|
|
GRP
|
[NCBI]
|
6.75803e-06
|
|
|
HHT
|
[NCBI]
|
6.67371e-06
|
|
|
LS
|
[NCBI]
|
6.55833e-06
|
|
|
SLC6A4
|
[NCBI]
|
6.40102e-06
|
|
|
PRL
|
[NCBI]
|
6.16319e-06
|
|
|
EPO
|
[NCBI]
|
5.49103e-06
|
|
|
APS1
|
[NCBI]
|
5.40605e-06
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
5.03328e-06
|
|
|
CDK5
|
[NCBI]
|
5.03328e-06
|
|
|
PMCH
|
[NCBI]
|
4.96703e-06
|
|
|
homocystinuria
|
[NCBI]
|
4.83718e-06
|
|
|
wilson disease
|
[NCBI]
|
4.77105e-06
|
|
|
MAPT
|
[NCBI]
|
4.58768e-06
|
|
|
BCHE
|
[NCBI]
|
4.52734e-06
|
|
|
CDLS1
|
[NCBI]
|
4.27898e-06
|
|
|
ADCYAP1
|
[NCBI]
|
3.46917e-06
|
|
|
CJD
|
[NCBI]
|
2.88997e-06
|
|
|
HD
|
[NCBI]
|
2.45491e-06
|
|
|
OSM
|
[NCBI]
|
2.22837e-06
|
|
|
ALD
|
[NCBI]
|
2.11534e-06
|
|
|
SHBG
|
[NCBI]
|
2.02793e-06
|
|
|
SPP1
|
[NCBI]
|
1.94089e-06
|
|
|
GTS
|
[NCBI]
|
1.73835e-06
|
|
|
FMR1
|
[NCBI]
|
1.68201e-06
|
|
|
APOB
|
[NCBI]
|
1.35887e-06
|
|
|
PYY
|
[NCBI]
|
1.34922e-06
|
|
|
CYP1A1
|
[NCBI]
|
1.30593e-06
|
|
|
PRNP
|
[NCBI]
|
1.26364e-06
|
|
|
SLE
|
[NCBI]
|
1.0953e-06
|
|
|
CP
|
[NCBI]
|
8.43295e-07
|
|
|
CVID
|
[NCBI]
|
5.67185e-07
|
|
|
XDH
|
[NCBI]
|
1.29221e-07
|
|
|
CHAT
|
[NCBI]
|
9.95146e-08
|
|
|
FRAP1
|
[NCBI]
|
6.46187e-08
|
|
|
SLC6A3
|
[NCBI]
|
3.56415e-08
|
|
|
TF
|
[NCBI]
|
3.10354e-08
|
|
|
SOD2
|
[NCBI]
|
2.89317e-08
|
|
|
POMC
|
[NCBI]
|
2.61881e-08
|
|
|
NF1
|
[NCBI]
|
2.40627e-08
|
|
|
COMT
|
[NCBI]
|
1.94754e-08
|
|
|
SHH
|
[NCBI]
|
1.82484e-08
|
|