|
OMIM |
Link |
Information gain |
01 |
|
ear, patella, short stature syndrome
|
[NCBI]
|
0.00557665
|
|
|
HFM
|
[NCBI]
|
0.00306516
|
|
|
dysgnathia complex
|
[NCBI]
|
0.00253312
|
|
|
auriculocondylar syndrome
|
[NCBI]
|
0.00241924
|
|
|
charge syndrome
|
[NCBI]
|
0.00138441
|
|
|
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging
|
[NCBI]
|
0.00133148
|
|
|
BOR1
|
[NCBI]
|
0.00118243
|
|
|
otoonychoperoneal syndrome
|
[NCBI]
|
0.000883295
|
|
|
oculootofacial dysplasia
|
[NCBI]
|
0.000883295
|
|
|
burn-mckeown syndrome
|
[NCBI]
|
0.000883295
|
|
|
johnson neuroectodermal syndrome
|
[NCBI]
|
0.000883295
|
|
|
DFNB5
|
[NCBI]
|
0.000766997
|
|
|
TBS
|
[NCBI]
|
0.000705085
|
|
|
VDEGS
|
[NCBI]
|
0.000691853
|
|
|
branchiootic syndrome 2
|
[NCBI]
|
0.000691853
|
|
|
BOS1
|
[NCBI]
|
0.000615919
|
|
|
microtia with meatal atresia and conductive deafness
|
[NCBI]
|
0.000524617
|
|
|
MTACR1
|
[NCBI]
|
0.000524617
|
|
|
PCA
|
[NCBI]
|
0.000432974
|
|
|
scalp-ear-nipple syndrome
|
[NCBI]
|
0.000411953
|
|
|
cerebrofrontofacial syndrome
|
[NCBI]
|
0.000389534
|
|
|
SCS
|
[NCBI]
|
0.00032312
|
|
|
MBS
|
[NCBI]
|
0.000294312
|
|
|
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
|
[NCBI]
|
0.000259474
|
|
|
EEC1
|
[NCBI]
|
0.00025473
|
|
|
fraser syndrome
|
[NCBI]
|
0.000252463
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.000201015
|
|
|
rokitansky-kuster-hauser syndrome
|
[NCBI]
|
0.000196686
|
|
|
LADD
|
[NCBI]
|
0.000190766
|
|
|
hand-foot-uterus syndrome
|
[NCBI]
|
0.000190766
|
|
|
OPD2
|
[NCBI]
|
0.000176077
|
|
|
CF
|
[NCBI]
|
0.000175501
|
|
|
CES
|
[NCBI]
|
0.000173782
|
|
|
kabuki syndrome
|
[NCBI]
|
0.000173416
|
|
|
thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness
|
[NCBI]
|
0.000168834
|
|
|
harrod syndrome
|
[NCBI]
|
0.000168834
|
|
|
microcephaly-deafness syndrome
|
[NCBI]
|
0.000168834
|
|
|
brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia
|
[NCBI]
|
0.000168834
|
|
|
rudiger syndrome
|
[NCBI]
|
0.000168834
|
|
|
teeth, noneruption of, with maxillary hypoplasia and genu valgum
|
[NCBI]
|
0.000168834
|
|
|
SSOS
|
[NCBI]
|
0.000168834
|
|
|
crumpled helices and small mouth
|
[NCBI]
|
0.000168834
|
|
|
cryptomicrotia-brachydactyly syndrome
|
[NCBI]
|
0.000168834
|
|
|
fibuloulnar aplasia or hypoplasia with renal abnormalities
|
[NCBI]
|
0.000168834
|
|
|
growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
|
[NCBI]
|
0.000168834
|
|
|
ABS
|
[NCBI]
|
0.000161143
|
|
|
OKS
|
[NCBI]
|
0.000142093
|
|
|
dermatitis herpetiformis, familial
|
[NCBI]
|
0.000129629
|
|
|
phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia
|
[NCBI]
|
0.000129629
|
|
|
nuchal bleb, familial
|
[NCBI]
|
0.000129629
|
|
|
coxoauricular syndrome
|
[NCBI]
|
0.000129629
|
|
|
OAFNS
|
[NCBI]
|
0.000129629
|
|
|
S PEAK SYNDROME
|
[NCBI]
|
0.000129629
|
|
|
tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
|
[NCBI]
|
0.000129629
|
|
|
codas syndrome
|
[NCBI]
|
0.000129629
|
|
|
otofaciocervical syndrome
|
[NCBI]
|
0.000129629
|
|
|
STL2
|
[NCBI]
|
0.000129629
|
|
|
cleft palate, cardiac defect, genital anomalies, and ectrodactyly
|
[NCBI]
|
0.000129629
|
|
|
SALL1
|
[NCBI]
|
0.000122196
|
|
|
walker-warburg syndrome
|
[NCBI]
|
0.000121502
|
|
|
barber-say syndrome
|
[NCBI]
|
0.000114877
|
|
|
charge-like syndrome, x-linked
|
[NCBI]
|
0.000114877
|
|
|
split-foot deformity with mandibulofacial dysostosis
|
[NCBI]
|
0.000114877
|
|
|
ear pits, posterior helical
|
[NCBI]
|
0.000114877
|
|
|
TCOF
|
[NCBI]
|
0.000111676
|
|
|
isotretinoin embryopathy-like syndrome
|
[NCBI]
|
0.000105323
|
|
|
fryns microphthalmia syndrome
|
[NCBI]
|
0.000105323
|
|
|
weyers ulnar ray/oligodactyly syndrome
|
[NCBI]
|
9.82373e-05
|
|
|
muenke syndrome
|
[NCBI]
|
9.82373e-05
|
|
|
DFNB6
|
[NCBI]
|
9.82373e-05
|
|
|
CLPED1
|
[NCBI]
|
9.82373e-05
|
|
|
chromosome 18p deletion syndrome
|
[NCBI]
|
9.26053e-05
|
|
|
keutel syndrome
|
[NCBI]
|
9.26053e-05
|
|
|
peters-plus syndrome
|
[NCBI]
|
8.39457e-05
|
|
|
HPS2
|
[NCBI]
|
8.04679e-05
|
|
|
opitz syndrome
|
[NCBI]
|
8.04679e-05
|
|
|
NPY
|
[NCBI]
|
8.01927e-05
|
|
|
MCPH1
|
[NCBI]
|
7.73863e-05
|
|
|
OPD1
|
[NCBI]
|
7.46213e-05
|
|
|
ulna and fibula, absence of, with severe limb deficiency
|
[NCBI]
|
7.46213e-05
|
|
|
ALSG
|
[NCBI]
|
7.2115e-05
|
|
|
EYA1
|
[NCBI]
|
6.90551e-05
|
|
|
weaver syndrome
|
[NCBI]
|
6.77157e-05
|
|
|
OCA2
|
[NCBI]
|
6.77157e-05
|
|
|
cerebrocostomandibular syndrome
|
[NCBI]
|
6.77157e-05
|
|
|
cutis laxa, autosomal recessive, type i
|
[NCBI]
|
6.57632e-05
|
|
|
TWIST1
|
[NCBI]
|
6.55337e-05
|
|
|
PAX2
|
[NCBI]
|
6.2711e-05
|
|
|
NHS
|
[NCBI]
|
6.2247e-05
|
|
|
HPS
|
[NCBI]
|
6.20459e-05
|
|
|
cutis laxa, x-linked
|
[NCBI]
|
5.91506e-05
|
|
|
MADA
|
[NCBI]
|
5.77318e-05
|
|
|
HNA
|
[NCBI]
|
5.77318e-05
|
|
|
deafness, conductive, with stapes fixation
|
[NCBI]
|
5.51109e-05
|
|
|
PFM
|
[NCBI]
|
5.38956e-05
|
|
|
SRS
|
[NCBI]
|
5.37272e-05
|
|
|
epidermolysis bullosa with pyloric atresia
|
[NCBI]
|
5.27364e-05
|
|
|
BGS
|
[NCBI]
|
5.16285e-05
|
|
|
RIEG1
|
[NCBI]
|
4.85744e-05
|
|
|
PKS
|
[NCBI]
|
4.58596e-05
|
|
|
IRX1
|
[NCBI]
|
4.37288e-05
|
|
|
IRX4
|
[NCBI]
|
4.37288e-05
|
|
|
GJB4
|
[NCBI]
|
4.37288e-05
|
|
|
IRX6
|
[NCBI]
|
4.37288e-05
|
|
|
IRX2
|
[NCBI]
|
4.37288e-05
|
|
|
PRKRA
|
[NCBI]
|
4.37288e-05
|
|
|
LI1
|
[NCBI]
|
4.266e-05
|
|
|
DGS
|
[NCBI]
|
4.25267e-05
|
|
|
PDS
|
[NCBI]
|
4.19234e-05
|
|
|
IRX5
|
[NCBI]
|
4.12842e-05
|
|
|
TECTB
|
[NCBI]
|
3.94669e-05
|
|
|
kartagener syndrome
|
[NCBI]
|
3.91904e-05
|
|
|
RSTS
|
[NCBI]
|
3.91904e-05
|
|
|
DACH1
|
[NCBI]
|
3.80193e-05
|
|
|
IL22
|
[NCBI]
|
3.68158e-05
|
|
|
HGPS
|
[NCBI]
|
3.56219e-05
|
|
|
PTGER4
|
[NCBI]
|
3.48858e-05
|
|
|
IL1RL1
|
[NCBI]
|
3.48858e-05
|
|
|
HOXA1
|
[NCBI]
|
3.40864e-05
|
|
|
BPES
|
[NCBI]
|
3.35267e-05
|
|
|
HPS1
|
[NCBI]
|
3.33675e-05
|
|
|
MED12
|
[NCBI]
|
3.33675e-05
|
|
|
COL11A1
|
[NCBI]
|
3.33675e-05
|
|
|
BWS
|
[NCBI]
|
3.32669e-05
|
|
|
HHT
|
[NCBI]
|
3.30331e-05
|
|
|
PQBP1
|
[NCBI]
|
3.21159e-05
|
|
|
ERBB4
|
[NCBI]
|
3.21159e-05
|
|
|
SIX1
|
[NCBI]
|
3.21159e-05
|
|
|
AP3B1
|
[NCBI]
|
3.21159e-05
|
|
|
PVRL1
|
[NCBI]
|
3.21159e-05
|
|
|
ANGPT1
|
[NCBI]
|
3.10514e-05
|
|
|
TBX1
|
[NCBI]
|
2.9704e-05
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
2.89294e-05
|
|
|
ALDH2
|
[NCBI]
|
2.67372e-05
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
2.64041e-05
|
|
|
IL12B
|
[NCBI]
|
2.6218e-05
|
|
|
ACH
|
[NCBI]
|
2.60542e-05
|
|
|
PITX2
|
[NCBI]
|
2.57344e-05
|
|
|
IFNG
|
[NCBI]
|
2.40764e-05
|
|
|
MPO
|
[NCBI]
|
2.2929e-05
|
|
|
GSC
|
[NCBI]
|
2.1484e-05
|
|
|
BDNF
|
[NCBI]
|
1.95213e-05
|
|
|
BMP2
|
[NCBI]
|
1.9505e-05
|
|
|
NRG1
|
[NCBI]
|
1.81257e-05
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
1.80476e-05
|
|
|
GUSB
|
[NCBI]
|
1.76731e-05
|
|
|
COMP
|
[NCBI]
|
1.24234e-05
|
|
|
INS
|
[NCBI]
|
1.18628e-05
|
|
|
MFS
|
[NCBI]
|
1.16984e-05
|
|
|
MG
|
[NCBI]
|
1.16106e-05
|
|
|
CHS
|
[NCBI]
|
7.06142e-06
|
|
|
FGF7
|
[NCBI]
|
6.88065e-06
|
|
|
TH
|
[NCBI]
|
5.6946e-06
|
|
|
SPP1
|
[NCBI]
|
3.70994e-06
|
|
|
PCNA
|
[NCBI]
|
3.59939e-06
|
|
|
SHH
|
[NCBI]
|
3.47579e-06
|
|
|
NGFB
|
[NCBI]
|
2.41684e-06
|
|
|
TNF
|
[NCBI]
|
1.18793e-06
|
|
|
CHAT
|
[NCBI]
|
2.86183e-07
|
|
|
EGF
|
[NCBI]
|
2.60944e-07
|
|
|
RP
|
[NCBI]
|
2.32315e-07
|
|
|
PWS
|
[NCBI]
|
1.52857e-07
|
|
|
ACHE
|
[NCBI]
|
1.41523e-07
|
|
|
VEGF
|
[NCBI]
|
9.58557e-08
|
|