|
OMIM |
Link |
Information gain |
01 |
|
DWS
|
[NCBI]
|
0.0100218
|
|
|
HSAS
|
[NCBI]
|
0.00304164
|
|
|
chudley-mccullough syndrome
|
[NCBI]
|
0.00246326
|
|
|
L1CAM
|
[NCBI]
|
0.00189739
|
|
|
megalencephaly
|
[NCBI]
|
0.00133961
|
|
|
EPV
|
[NCBI]
|
0.00133961
|
|
|
renal-hepatic-pancreatic dysplasia with dandy-walker cyst
|
[NCBI]
|
0.00120476
|
|
|
hydrocephalus
|
[NCBI]
|
0.00113809
|
|
|
syringomyelia, isolated
|
[NCBI]
|
0.000984771
|
|
|
walker-warburg syndrome
|
[NCBI]
|
0.00096982
|
|
|
chiari malformation type ii
|
[NCBI]
|
0.000817936
|
|
|
vacterl association with hydrocephalus, x-linked
|
[NCBI]
|
0.000744589
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.000723881
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
0.000671766
|
|
|
masa syndrome
|
[NCBI]
|
0.000663192
|
|
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
0.000631949
|
|
|
hydrocephalus, autosomal dominant
|
[NCBI]
|
0.000600836
|
|
|
JBTS1
|
[NCBI]
|
0.00053916
|
|
|
vacterl association with hydrocephalus
|
[NCBI]
|
0.000523224
|
|
|
basilar impression, primary
|
[NCBI]
|
0.000519427
|
|
|
aase-smith syndrome i
|
[NCBI]
|
0.000519427
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
0.000350052
|
|
|
dyssegmental dysplasia, rolland-desbuquois type
|
[NCBI]
|
0.000350052
|
|
|
omodysplasia, generalized form
|
[NCBI]
|
0.000331207
|
|
|
THAS
|
[NCBI]
|
0.000314561
|
|
|
DA5
|
[NCBI]
|
0.000314561
|
|
|
basal ganglia calcification, idiopathic, childhood-onset
|
[NCBI]
|
0.000299673
|
|
|
hydrocephalus with cerebellar agenesis
|
[NCBI]
|
0.000297665
|
|
|
hydrocephalus due to congenital stenosis of aqueduct of sylvius
|
[NCBI]
|
0.000297665
|
|
|
SLE
|
[NCBI]
|
0.000293001
|
|
|
centralopathic epilepsy
|
[NCBI]
|
0.000273963
|
|
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
0.000262717
|
|
|
mohr syndrome
|
[NCBI]
|
0.000262717
|
|
|
MRX59
|
[NCBI]
|
0.000243186
|
|
|
DURS1
|
[NCBI]
|
0.000242708
|
|
|
HFM
|
[NCBI]
|
0.000234506
|
|
|
schinzel-giedion midface-retraction syndrome
|
[NCBI]
|
0.000233736
|
|
|
NAPA
|
[NCBI]
|
0.000213866
|
|
|
ACH
|
[NCBI]
|
0.000213095
|
|
|
hydrocephalus, skeletal anomalies, and mental disturbance
|
[NCBI]
|
0.000198361
|
|
|
chiari malformation type i
|
[NCBI]
|
0.000173029
|
|
|
NLS
|
[NCBI]
|
0.000173029
|
|
|
macrocephaly
|
[NCBI]
|
0.000167441
|
|
|
bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features
|
[NCBI]
|
0.000167441
|
|
|
FANCB
|
[NCBI]
|
0.000166376
|
|
|
FRNS
|
[NCBI]
|
0.000153564
|
|
|
axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
|
[NCBI]
|
0.000153486
|
|
|
BGS
|
[NCBI]
|
0.000149742
|
|
|
TD1
|
[NCBI]
|
0.000143086
|
|
|
HYDIN
|
[NCBI]
|
0.000142488
|
|
|
holoprosencephaly
|
[NCBI]
|
0.000137018
|
|
|
PCD
|
[NCBI]
|
0.000136636
|
|
|
ATD1
|
[NCBI]
|
0.000129626
|
|
|
EVC
|
[NCBI]
|
0.000127489
|
|
|
TD2
|
[NCBI]
|
0.000125648
|
|
|
AP1S2
|
[NCBI]
|
0.000114942
|
|
|
shprintzen-goldberg craniosynostosis syndrome
|
[NCBI]
|
0.000114134
|
|
|
DNAH5
|
[NCBI]
|
0.00010906
|
|
|
MKS1
|
[NCBI]
|
0.000106599
|
|
|
hydrocephalus, tall stature, joint laxity, and kyphoscoliosis
|
[NCBI]
|
9.9139e-05
|
|
|
thoracic dysplasia-hydrocephalus syndrome
|
[NCBI]
|
9.9139e-05
|
|
|
craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus
|
[NCBI]
|
9.9139e-05
|
|
|
osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension
|
[NCBI]
|
9.9139e-05
|
|
|
cephalocele, atretic
|
[NCBI]
|
9.9139e-05
|
|
|
dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy
|
[NCBI]
|
9.9139e-05
|
|
|
beemer lethal malformation syndrome
|
[NCBI]
|
9.9139e-05
|
|
|
tetralogy of fallot syndrome, autosomal recessive
|
[NCBI]
|
9.9139e-05
|
|
|
hydrocephalus, endocardial fibroelastosis, and cataracts
|
[NCBI]
|
9.9139e-05
|
|
|
hydrocephalus with associated malformations
|
[NCBI]
|
9.9139e-05
|
|
|
porencephaly, cerebellar hypoplasia, and internal malformations
|
[NCBI]
|
9.9139e-05
|
|
|
GFAP
|
[NCBI]
|
9.73914e-05
|
|
|
mulibrey nanism
|
[NCBI]
|
9.71436e-05
|
|
|
NSF
|
[NCBI]
|
9.28053e-05
|
|
|
FOXC1
|
[NCBI]
|
8.01922e-05
|
|
|
radial aplasia, x-linked
|
[NCBI]
|
7.67021e-05
|
|
|
edinburgh malformation syndrome
|
[NCBI]
|
7.67021e-05
|
|
|
craniomicromelic syndrome
|
[NCBI]
|
7.67021e-05
|
|
|
kleeblattschaedel syndrome
|
[NCBI]
|
7.67021e-05
|
|
|
bor-duane hydrocephalus contiguous gene syndrome
|
[NCBI]
|
7.67021e-05
|
|
|
dandy-walker malformation with postaxial polydactyly
|
[NCBI]
|
7.67021e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
7.61941e-05
|
|
|
MEB
|
[NCBI]
|
7.26261e-05
|
|
|
ADCYAP1R1
|
[NCBI]
|
7.11996e-05
|
|
|
NFIX
|
[NCBI]
|
7.11996e-05
|
|
|
HYDIN2
|
[NCBI]
|
7.11996e-05
|
|
|
corpus callosum, partial agenesis of, x-linked
|
[NCBI]
|
6.82557e-05
|
|
|
craniofacial dyssynostosis with short stature
|
[NCBI]
|
6.82557e-05
|
|
|
mental retardation, buenos aires type
|
[NCBI]
|
6.82557e-05
|
|
|
ossified ear cartilages with mental deficiency, muscle wasting, and bony changes
|
[NCBI]
|
6.82557e-05
|
|
|
brachial amelia, forebrain defects, and facial clefts
|
[NCBI]
|
6.82557e-05
|
|
|
LIS2
|
[NCBI]
|
6.27831e-05
|
|
|
macrocephaly, benign familial
|
[NCBI]
|
6.27831e-05
|
|
|
anal atresia, hypospadias, and penoscrotal inversion
|
[NCBI]
|
6.27831e-05
|
|
|
sotos syndrome
|
[NCBI]
|
6.0412e-05
|
|
|
FCMD
|
[NCBI]
|
5.98634e-05
|
|
|
BCNS
|
[NCBI]
|
5.87904e-05
|
|
|
camptomelic syndrome, long-limb type
|
[NCBI]
|
5.87229e-05
|
|
|
peroxidase and phospholipid deficiency in eosinophils
|
[NCBI]
|
5.87229e-05
|
|
|
intracranial hypertension, idiopathic
|
[NCBI]
|
5.87229e-05
|
|
|
SPAG6
|
[NCBI]
|
5.74266e-05
|
|
|
CLS
|
[NCBI]
|
5.58184e-05
|
|
|
isotretinoin embryopathy-like syndrome
|
[NCBI]
|
5.54945e-05
|
|
|
OPTB5
|
[NCBI]
|
5.28159e-05
|
|
|
NFIA
|
[NCBI]
|
5.22328e-05
|
|
|
SOCS7
|
[NCBI]
|
5.22328e-05
|
|
|
gaucher disease, type iiic
|
[NCBI]
|
5.05279e-05
|
|
|
GBA
|
[NCBI]
|
4.87007e-05
|
|
|
porencephaly, familial
|
[NCBI]
|
4.8532e-05
|
|
|
peters-plus syndrome
|
[NCBI]
|
4.8532e-05
|
|
|
MBP
|
[NCBI]
|
4.81643e-05
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
4.67628e-05
|
|
|
lipase, congenital absence of pancreatic
|
[NCBI]
|
4.63586e-05
|
|
|
vater association
|
[NCBI]
|
4.51748e-05
|
|
|
pseudotrisomy 13 syndrome
|
[NCBI]
|
4.51748e-05
|
|
|
wildervanck syndrome
|
[NCBI]
|
4.37348e-05
|
|
|
wagr syndrome
|
[NCBI]
|
4.37348e-05
|
|
|
plasminogen deficiency, type i
|
[NCBI]
|
4.12056e-05
|
|
|
TTC10
|
[NCBI]
|
4.00523e-05
|
|
|
COL4A1
|
[NCBI]
|
4.00523e-05
|
|
|
OPD2
|
[NCBI]
|
3.80587e-05
|
|
|
succinic semialdehyde dehydrogenase deficiency
|
[NCBI]
|
3.80587e-05
|
|
|
TP73
|
[NCBI]
|
3.79651e-05
|
|
|
HSAN2
|
[NCBI]
|
3.71403e-05
|
|
|
COL18A1
|
[NCBI]
|
3.70678e-05
|
|
|
crouzon syndrome
|
[NCBI]
|
3.54571e-05
|
|
|
alexander disease
|
[NCBI]
|
3.54571e-05
|
|
|
AGS1
|
[NCBI]
|
3.4682e-05
|
|
|
TS
|
[NCBI]
|
3.4078e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
3.39456e-05
|
|
|
tay-sachs disease, ab variant
|
[NCBI]
|
3.29385e-05
|
|
|
neural tube defects
|
[NCBI]
|
3.07343e-05
|
|
|
AFP
|
[NCBI]
|
3.05091e-05
|
|
|
FA
|
[NCBI]
|
3.03003e-05
|
|
|
GCE
|
[NCBI]
|
3.01695e-05
|
|
|
HIF1A
|
[NCBI]
|
3.00534e-05
|
|
|
CHAT
|
[NCBI]
|
2.93093e-05
|
|
|
ABS
|
[NCBI]
|
2.91029e-05
|
|
|
BOR1
|
[NCBI]
|
2.81109e-05
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
2.764e-05
|
|
|
pfeiffer syndrome
|
[NCBI]
|
2.764e-05
|
|
|
PKS
|
[NCBI]
|
2.764e-05
|
|
|
EFE
|
[NCBI]
|
2.764e-05
|
|
|
AQP1
|
[NCBI]
|
2.63206e-05
|
|
|
MDLS
|
[NCBI]
|
2.63159e-05
|
|
|
testicular tumors
|
[NCBI]
|
2.59013e-05
|
|
|
apert syndrome
|
[NCBI]
|
2.59013e-05
|
|
|
FLNA
|
[NCBI]
|
2.57757e-05
|
|
|
DBI
|
[NCBI]
|
2.40853e-05
|
|
|
NF1
|
[NCBI]
|
2.38638e-05
|
|
|
PHS
|
[NCBI]
|
2.33073e-05
|
|
|
FDH
|
[NCBI]
|
2.29746e-05
|
|
|
PAX3
|
[NCBI]
|
2.09364e-05
|
|
|
CSA
|
[NCBI]
|
2.05806e-05
|
|
|
costello syndrome
|
[NCBI]
|
2.03105e-05
|
|
|
MTM1
|
[NCBI]
|
1.9787e-05
|
|
|
VIM
|
[NCBI]
|
1.84855e-05
|
|
|
BDNF
|
[NCBI]
|
1.55197e-05
|
|
|
FOP
|
[NCBI]
|
1.51611e-05
|
|
|
APOB
|
[NCBI]
|
1.4728e-05
|
|
|
CCD
|
[NCBI]
|
1.40098e-05
|
|
|
AVSD
|
[NCBI]
|
1.40098e-05
|
|
|
ADCYAP1
|
[NCBI]
|
1.36964e-05
|
|
|
PLG
|
[NCBI]
|
1.29267e-05
|
|
|
CEACAM5
|
[NCBI]
|
1.02473e-05
|
|
|
NGFB
|
[NCBI]
|
1.02433e-05
|
|
|
MAS
|
[NCBI]
|
9.54474e-06
|
|
|
VEGF
|
[NCBI]
|
9.43663e-06
|
|
|
VHL
|
[NCBI]
|
8.78905e-06
|
|
|
AVP
|
[NCBI]
|
7.39668e-06
|
|
|
EGFR
|
[NCBI]
|
6.64617e-06
|
|
|
PD
|
[NCBI]
|
4.04937e-06
|
|
|
TH
|
[NCBI]
|
3.91461e-06
|
|
|
ACHE
|
[NCBI]
|
3.86768e-06
|
|
|
PCNA
|
[NCBI]
|
3.36988e-06
|
|
|
MUC1
|
[NCBI]
|
1.23156e-06
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
9.52417e-07
|
|
|
ADA
|
[NCBI]
|
9.08745e-07
|
|
|
VIP
|
[NCBI]
|
4.13086e-07
|
|
|
polycystic kidneys
|
[NCBI]
|
2.0433e-07
|
|
|
HGF
|
[NCBI]
|
1.59542e-07
|
|
|
EPO
|
[NCBI]
|
1.58907e-07
|
|
|
CCK
|
[NCBI]
|
1.29278e-07
|
|
|
PRL
|
[NCBI]
|
2.87794e-08
|
|