|
OMIM |
Link |
Information gain |
01 |
|
apnea, obstructive sleep
|
[NCBI]
|
0.0153948
|
|
|
HFM
|
[NCBI]
|
0.00412588
|
|
|
microcephaly, autosomal dominant
|
[NCBI]
|
0.00126171
|
|
|
CPI
|
[NCBI]
|
0.00121051
|
|
|
MRXS11
|
[NCBI]
|
0.00084194
|
|
|
palatopharyngeal incompetence
|
[NCBI]
|
0.000746593
|
|
|
osteodysplasia, familial, anderson type
|
[NCBI]
|
0.000579072
|
|
|
megalencephaly
|
[NCBI]
|
0.000481317
|
|
|
MHAC
|
[NCBI]
|
0.000481317
|
|
|
macrocephaly, benign familial
|
[NCBI]
|
0.000477972
|
|
|
prognathism, mandibular
|
[NCBI]
|
0.000418658
|
|
|
kabuki syndrome
|
[NCBI]
|
0.000314674
|
|
|
ASD1
|
[NCBI]
|
0.000306812
|
|
|
maxillonasal dysplasia, binder type
|
[NCBI]
|
0.000306812
|
|
|
CCD
|
[NCBI]
|
0.000295806
|
|
|
GO
|
[NCBI]
|
0.000281739
|
|
|
HSS
|
[NCBI]
|
0.000266835
|
|
|
RA
|
[NCBI]
|
0.000244111
|
|
|
amelogenesis imperfecta, hypoplastic, and openbite malocclusion, autosomal recessive
|
[NCBI]
|
0.000225402
|
|
|
ACH
|
[NCBI]
|
0.000185967
|
|
|
SLE
|
[NCBI]
|
0.000146075
|
|
|
MCPH1
|
[NCBI]
|
0.000145984
|
|
|
trigonocephaly with short stature and developmental delay
|
[NCBI]
|
0.000131716
|
|
|
craniosynostosis with anomalies of the cranial base and digits
|
[NCBI]
|
0.000131716
|
|
|
brachioskeletogenital syndrome
|
[NCBI]
|
0.000131716
|
|
|
facial asymmetry
|
[NCBI]
|
0.000131716
|
|
|
corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation
|
[NCBI]
|
0.000131716
|
|
|
chiari malformation type i
|
[NCBI]
|
0.000127049
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
0.000106605
|
|
|
pachygyria with mental retardation and seizures
|
[NCBI]
|
0.00010397
|
|
|
aniridia, partial, with unilateral renal agenesis and psychomotor retardation
|
[NCBI]
|
0.00010397
|
|
|
CF
|
[NCBI]
|
0.00010191
|
|
|
WS1
|
[NCBI]
|
9.5938e-05
|
|
|
VWS
|
[NCBI]
|
9.36857e-05
|
|
|
STL3
|
[NCBI]
|
8.17002e-05
|
|
|
macrocephaly/autism syndrome
|
[NCBI]
|
8.17002e-05
|
|
|
NS1
|
[NCBI]
|
7.98763e-05
|
|
|
CINCA
|
[NCBI]
|
7.7694e-05
|
|
|
STL2
|
[NCBI]
|
7.43671e-05
|
|
|
AIH2
|
[NCBI]
|
7.1523e-05
|
|
|
BPP
|
[NCBI]
|
7.1523e-05
|
|
|
c syndrome
|
[NCBI]
|
6.904e-05
|
|
|
sialuria
|
[NCBI]
|
6.68371e-05
|
|
|
SMMCI
|
[NCBI]
|
6.68371e-05
|
|
|
kniest dysplasia
|
[NCBI]
|
6.48582e-05
|
|
|
RHS
|
[NCBI]
|
6.30622e-05
|
|
|
ACP5
|
[NCBI]
|
6.14494e-05
|
|
|
crouzon syndrome
|
[NCBI]
|
6.14185e-05
|
|
|
mulibrey nanism
|
[NCBI]
|
6.14185e-05
|
|
|
chondrodysplasia punctata, autosomal dominant
|
[NCBI]
|
6.14185e-05
|
|
|
JBS
|
[NCBI]
|
5.99037e-05
|
|
|
CFTD
|
[NCBI]
|
5.84993e-05
|
|
|
CRS1
|
[NCBI]
|
5.84993e-05
|
|
|
seckel syndrome 1
|
[NCBI]
|
5.71905e-05
|
|
|
pituitary dwarfism i
|
[NCBI]
|
5.4814e-05
|
|
|
HNA
|
[NCBI]
|
5.37283e-05
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
5.25889e-05
|
|
|
MLC
|
[NCBI]
|
4.99172e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
4.99172e-05
|
|
|
RCDP1
|
[NCBI]
|
4.67499e-05
|
|
|
STL1
|
[NCBI]
|
4.46846e-05
|
|
|
hypophosphatasia, infantile
|
[NCBI]
|
4.46846e-05
|
|
|
GCPS
|
[NCBI]
|
4.11422e-05
|
|
|
MFS
|
[NCBI]
|
4.09558e-05
|
|
|
TRPS2
|
[NCBI]
|
3.96003e-05
|
|
|
SCS
|
[NCBI]
|
3.68657e-05
|
|
|
sotos syndrome
|
[NCBI]
|
3.68657e-05
|
|
|
TCOF
|
[NCBI]
|
3.17753e-05
|
|
|
CES
|
[NCBI]
|
3.14636e-05
|
|
|
TD1
|
[NCBI]
|
3.0857e-05
|
|
|
PWS
|
[NCBI]
|
3.07169e-05
|
|
|
mucopolysaccharidosis type iva
|
[NCBI]
|
2.90806e-05
|
|
|
PAX3
|
[NCBI]
|
2.61344e-05
|
|
|
IGFALS
|
[NCBI]
|
2.25764e-05
|
|
|
SCZD
|
[NCBI]
|
2.21044e-05
|
|
|
FGFR2
|
[NCBI]
|
2.11403e-05
|
|
|
SMS
|
[NCBI]
|
2.06371e-05
|
|
|
BCNS
|
[NCBI]
|
1.8752e-05
|
|
|
FGFR3
|
[NCBI]
|
1.84227e-05
|
|
|
NF1
|
[NCBI]
|
1.82915e-05
|
|
|
GHR
|
[NCBI]
|
1.81843e-05
|
|
|
HSCR1
|
[NCBI]
|
1.79613e-05
|
|
|
SRS
|
[NCBI]
|
1.71081e-05
|
|
|
OFC1
|
[NCBI]
|
1.54299e-05
|
|
|
WBS
|
[NCBI]
|
1.42067e-05
|
|
|
GNRH1
|
[NCBI]
|
1.17433e-05
|
|
|
ADA
|
[NCBI]
|
1.08127e-05
|
|
|
BWS
|
[NCBI]
|
6.87595e-06
|
|
|
AFP
|
[NCBI]
|
6.39894e-06
|
|
|
APOE
|
[NCBI]
|
6.16129e-06
|
|
|
GTS
|
[NCBI]
|
5.33178e-06
|
|
|
PCNA
|
[NCBI]
|
4.13546e-06
|
|
|
MDD
|
[NCBI]
|
3.86695e-06
|
|
|
AD
|
[NCBI]
|
3.64733e-06
|
|
|
TNF
|
[NCBI]
|
6.47098e-07
|
|
|
FA
|
[NCBI]
|
5.22402e-07
|
|