|
OMIM |
Link |
Information gain |
01 |
|
AIC
|
[NCBI]
|
0.0185492
|
|
|
corpus callosum, agenesis of, with facial anomalies and robin sequence
|
[NCBI]
|
0.00597846
|
|
|
ACLS
|
[NCBI]
|
0.00339422
|
|
|
immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
|
[NCBI]
|
0.00328913
|
|
|
genitopatellar syndrome
|
[NCBI]
|
0.00278618
|
|
|
ACCPN
|
[NCBI]
|
0.00181879
|
|
|
corpus callosum, agenesis of
|
[NCBI]
|
0.00155433
|
|
|
SPG11
|
[NCBI]
|
0.00122898
|
|
|
SPAX3
|
[NCBI]
|
0.0010918
|
|
|
short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting
|
[NCBI]
|
0.0010918
|
|
|
brooks-wisniewski-brown syndrome
|
[NCBI]
|
0.000782525
|
|
|
centralopathic epilepsy
|
[NCBI]
|
0.000666859
|
|
|
chudley-mccullough syndrome
|
[NCBI]
|
0.000666859
|
|
|
corpus callosum, partial agenesis of, x-linked
|
[NCBI]
|
0.000657435
|
|
|
ocular motor apraxia
|
[NCBI]
|
0.000592348
|
|
|
frontofacionasal dysostosis
|
[NCBI]
|
0.000592348
|
|
|
epiphyseal dysplasia, microcephaly, and nystagmus
|
[NCBI]
|
0.000537382
|
|
|
mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
|
[NCBI]
|
0.000493928
|
|
|
acromelic frontonasal dysostosis
|
[NCBI]
|
0.000493928
|
|
|
basal ganglia calcification, idiopathic, childhood-onset
|
[NCBI]
|
0.000493928
|
|
|
MCOPS1
|
[NCBI]
|
0.000401244
|
|
|
LISX2
|
[NCBI]
|
0.00039763
|
|
|
donnai-barrow syndrome
|
[NCBI]
|
0.000375224
|
|
|
craniosynostosis-mental retardation syndrome of lin and gettig
|
[NCBI]
|
0.00032835
|
|
|
megalencephaly, mega corpus callosum, and complete lack of motor development
|
[NCBI]
|
0.00032835
|
|
|
corpus callosum, agenesis of, with abnormal genitalia
|
[NCBI]
|
0.00032835
|
|
|
IBGC1
|
[NCBI]
|
0.000321532
|
|
|
GTS
|
[NCBI]
|
0.000303825
|
|
|
GCPS
|
[NCBI]
|
0.000298031
|
|
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
0.000291661
|
|
|
sakoda complex
|
[NCBI]
|
0.000274334
|
|
|
septooptic dysplasia
|
[NCBI]
|
0.000269544
|
|
|
GFAP
|
[NCBI]
|
0.00025679
|
|
|
cleft, median, of upper lip with polyps of facial skin and nasal mucosa
|
[NCBI]
|
0.000249967
|
|
|
OKS
|
[NCBI]
|
0.000234778
|
|
|
cerebrofrontofacial syndrome
|
[NCBI]
|
0.000220489
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.000206837
|
|
|
L1CAM
|
[NCBI]
|
0.000197287
|
|
|
holoprosencephaly
|
[NCBI]
|
0.000191175
|
|
|
FRNS
|
[NCBI]
|
0.000183922
|
|
|
SLE
|
[NCBI]
|
0.000183814
|
|
|
hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
|
[NCBI]
|
0.000164084
|
|
|
sebaceous nevus syndrome and hemimegalencephaly
|
[NCBI]
|
0.000164084
|
|
|
osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension
|
[NCBI]
|
0.000164084
|
|
|
cephalocele, atretic
|
[NCBI]
|
0.000164084
|
|
|
craniofacial dysmorphism with ocular coloboma, absent corpus callosum, and aortic dilatation
|
[NCBI]
|
0.000164084
|
|
|
encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts
|
[NCBI]
|
0.000164084
|
|
|
growth retardation, small and puffy hands and feet, and eczema
|
[NCBI]
|
0.000164084
|
|
|
masa syndrome
|
[NCBI]
|
0.000145687
|
|
|
MBP
|
[NCBI]
|
0.000143032
|
|
|
ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum
|
[NCBI]
|
0.000124893
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.000122428
|
|
|
EKD1
|
[NCBI]
|
0.000113912
|
|
|
MDLS
|
[NCBI]
|
0.000110914
|
|
|
microcephaly, corpus callosum dysgenesis, and cleft lip/palate
|
[NCBI]
|
0.000110155
|
|
|
malonyl-coa decarboxylase deficiency
|
[NCBI]
|
0.000110155
|
|
|
c-like syndrome
|
[NCBI]
|
0.000100614
|
|
|
kabuki syndrome
|
[NCBI]
|
9.86436e-05
|
|
|
SLC12A6
|
[NCBI]
|
9.41222e-05
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
9.35412e-05
|
|
|
LIS2
|
[NCBI]
|
8.79226e-05
|
|
|
TTDN1
|
[NCBI]
|
8.79226e-05
|
|
|
FTD
|
[NCBI]
|
8.60716e-05
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
8.32648e-05
|
|
|
NFIA
|
[NCBI]
|
8.03822e-05
|
|
|
frontonasal dysplasia
|
[NCBI]
|
7.58253e-05
|
|
|
KNO
|
[NCBI]
|
7.58253e-05
|
|
|
mowat-wilson syndrome
|
[NCBI]
|
7.27572e-05
|
|
|
LISX1
|
[NCBI]
|
7.27572e-05
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
7.27572e-05
|
|
|
musical perfect pitch
|
[NCBI]
|
6.75127e-05
|
|
|
HHS
|
[NCBI]
|
6.75127e-05
|
|
|
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to
|
[NCBI]
|
6.75127e-05
|
|
|
ZEB2
|
[NCBI]
|
6.65686e-05
|
|
|
c syndrome
|
[NCBI]
|
6.52353e-05
|
|
|
COFS1
|
[NCBI]
|
6.31401e-05
|
|
|
apert syndrome
|
[NCBI]
|
6.12011e-05
|
|
|
ARX
|
[NCBI]
|
5.96843e-05
|
|
|
LRP2
|
[NCBI]
|
5.96843e-05
|
|
|
donohue syndrome
|
[NCBI]
|
5.77117e-05
|
|
|
asplenia with cardiovascular anomalies
|
[NCBI]
|
5.61305e-05
|
|
|
SPG3A
|
[NCBI]
|
5.61305e-05
|
|
|
OFD1
|
[NCBI]
|
5.19058e-05
|
|
|
ADHD
|
[NCBI]
|
4.94406e-05
|
|
|
CFNS
|
[NCBI]
|
4.82948e-05
|
|
|
COH1
|
[NCBI]
|
4.61532e-05
|
|
|
HSAS
|
[NCBI]
|
4.41864e-05
|
|
|
RIEG1
|
[NCBI]
|
4.41864e-05
|
|
|
SPG11
|
[NCBI]
|
4.39233e-05
|
|
|
CADASIL
|
[NCBI]
|
4.32608e-05
|
|
|
FDH
|
[NCBI]
|
4.32608e-05
|
|
|
MCOPS7
|
[NCBI]
|
4.32608e-05
|
|
|
PAX6
|
[NCBI]
|
4.31526e-05
|
|
|
CMTX1
|
[NCBI]
|
4.15119e-05
|
|
|
glioma of brain, familial
|
[NCBI]
|
4.06842e-05
|
|
|
SLIT1
|
[NCBI]
|
3.7716e-05
|
|
|
NFIX
|
[NCBI]
|
3.7716e-05
|
|
|
EOMES
|
[NCBI]
|
3.7716e-05
|
|
|
sotos syndrome
|
[NCBI]
|
3.76426e-05
|
|
|
AKT3
|
[NCBI]
|
3.59003e-05
|
|
|
RSTS
|
[NCBI]
|
3.49632e-05
|
|
|
TTDN1
|
[NCBI]
|
3.44543e-05
|
|
|
TNC
|
[NCBI]
|
3.41809e-05
|
|
|
ROBO2
|
[NCBI]
|
3.32524e-05
|
|
|
OTX1
|
[NCBI]
|
3.32524e-05
|
|
|
ROBO1
|
[NCBI]
|
3.22241e-05
|
|
|
MLYCD
|
[NCBI]
|
3.22241e-05
|
|
|
FGF2
|
[NCBI]
|
3.21543e-05
|
|
|
HESX1
|
[NCBI]
|
3.13255e-05
|
|
|
KIF5B
|
[NCBI]
|
3.13255e-05
|
|
|
KCNMB1
|
[NCBI]
|
3.13255e-05
|
|
|
NS1
|
[NCBI]
|
3.09456e-05
|
|
|
ADSL
|
[NCBI]
|
2.91588e-05
|
|
|
SLIT2
|
[NCBI]
|
2.91588e-05
|
|
|
CYP11A1
|
[NCBI]
|
2.91588e-05
|
|
|
EFNB1
|
[NCBI]
|
2.8562e-05
|
|
|
DCX
|
[NCBI]
|
2.46913e-05
|
|
|
CHAT
|
[NCBI]
|
2.40453e-05
|
|
|
EIG
|
[NCBI]
|
2.35873e-05
|
|
|
GLI3
|
[NCBI]
|
2.34784e-05
|
|
|
HSCR1
|
[NCBI]
|
2.25388e-05
|
|
|
HMI
|
[NCBI]
|
2.2445e-05
|
|
|
PITX2
|
[NCBI]
|
2.2209e-05
|
|
|
BACE1
|
[NCBI]
|
2.17596e-05
|
|
|
KAL1
|
[NCBI]
|
2.05636e-05
|
|
|
APOD
|
[NCBI]
|
1.90869e-05
|
|
|
MAG
|
[NCBI]
|
1.87793e-05
|
|
|
MDD
|
[NCBI]
|
1.85491e-05
|
|
|
phenylketonuria
|
[NCBI]
|
1.71708e-05
|
|
|
TNF
|
[NCBI]
|
1.70448e-05
|
|
|
ASS
|
[NCBI]
|
1.55938e-05
|
|
|
VEGF
|
[NCBI]
|
1.46287e-05
|
|
|
TF
|
[NCBI]
|
1.40949e-05
|
|
|
ZS
|
[NCBI]
|
1.37802e-05
|
|
|
FGFR1
|
[NCBI]
|
1.32603e-05
|
|
|
PSEN1
|
[NCBI]
|
1.29037e-05
|
|
|
krabbe disease
|
[NCBI]
|
1.26566e-05
|
|
|
ACHE
|
[NCBI]
|
1.19034e-05
|
|
|
VASP
|
[NCBI]
|
1.18433e-05
|
|
|
APP
|
[NCBI]
|
1.12848e-05
|
|
|
DRPLA
|
[NCBI]
|
1.09795e-05
|
|
|
SLOS
|
[NCBI]
|
1.09795e-05
|
|
|
FMR1
|
[NCBI]
|
1.06924e-05
|
|
|
BCHE
|
[NCBI]
|
9.6943e-06
|
|
|
CDK5
|
[NCBI]
|
7.73633e-06
|
|
|
WBS
|
[NCBI]
|
7.63627e-06
|
|
|
NGFB
|
[NCBI]
|
6.38143e-06
|
|
|
TH
|
[NCBI]
|
2.9281e-06
|
|
|
XDH
|
[NCBI]
|
2.83153e-06
|
|
|
GAPDH
|
[NCBI]
|
2.61694e-06
|
|
|
amyloidosis vi
|
[NCBI]
|
1.67597e-06
|
|
|
polycystic kidneys
|
[NCBI]
|
1.63793e-06
|
|
|
SHH
|
[NCBI]
|
1.33349e-06
|
|
|
AD
|
[NCBI]
|
1.18658e-06
|
|
|
CCK
|
[NCBI]
|
1.18262e-06
|
|
|
GDNF
|
[NCBI]
|
1.09565e-06
|
|
|
ADA
|
[NCBI]
|
1.04229e-06
|
|
|
BDNF
|
[NCBI]
|
9.12216e-07
|
|
|
APOE
|
[NCBI]
|
4.87151e-07
|
|
|
NPY
|
[NCBI]
|
4.59451e-07
|
|
|
TS
|
[NCBI]
|
3.3438e-07
|
|
|
AFP
|
[NCBI]
|
2.32714e-07
|
|
|
AVP
|
[NCBI]
|
1.08187e-07
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
4.47066e-08
|
|
|
ALD
|
[NCBI]
|
2.87183e-08
|
|