|
OMIM |
Link |
Information gain |
01 |
|
hypertelorism, teebi type
|
[NCBI]
|
0.00266033
|
|
|
PCA
|
[NCBI]
|
0.00252717
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
0.00241622
|
|
|
acromelic frontonasal dysostosis
|
[NCBI]
|
0.00223595
|
|
|
cerebrooculonasal syndrome
|
[NCBI]
|
0.00210481
|
|
|
maxillonasal dysplasia, binder type
|
[NCBI]
|
0.00198564
|
|
|
JBS
|
[NCBI]
|
0.00162401
|
|
|
BWCNS
|
[NCBI]
|
0.00135602
|
|
|
laurin-sandrow syndrome
|
[NCBI]
|
0.00110781
|
|
|
TRPS1
|
[NCBI]
|
0.00106574
|
|
|
CFNS
|
[NCBI]
|
0.00105213
|
|
|
nasal groove, familial transverse
|
[NCBI]
|
0.00105052
|
|
|
short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting
|
[NCBI]
|
0.00105052
|
|
|
achoo syndrome
|
[NCBI]
|
0.000741598
|
|
|
arhinia, choanal atresia, and microphthalmia
|
[NCBI]
|
0.000665044
|
|
|
HFM
|
[NCBI]
|
0.000655381
|
|
|
TRPS2
|
[NCBI]
|
0.000642926
|
|
|
palpebral coloboma-lipoma syndrome
|
[NCBI]
|
0.000626283
|
|
|
klippel-feil syndrome, autosomal recessive
|
[NCBI]
|
0.000552124
|
|
|
hypertelorism, microtia, facial clefting syndrome
|
[NCBI]
|
0.000552124
|
|
|
frontofacionasal dysostosis
|
[NCBI]
|
0.000552124
|
|
|
oculodentoosseous dysplasia, recessive
|
[NCBI]
|
0.000552124
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000527186
|
|
|
frontonasal dysplasia
|
[NCBI]
|
0.000490269
|
|
|
palatopharyngeal incompetence
|
[NCBI]
|
0.000487628
|
|
|
spondyloepimetaphyseal dysplasia, sponastrime type
|
[NCBI]
|
0.000454408
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.000430734
|
|
|
RA
|
[NCBI]
|
0.000425004
|
|
|
acrodysostosis
|
[NCBI]
|
0.000418914
|
|
|
ZLS
|
[NCBI]
|
0.000362781
|
|
|
OAFNS
|
[NCBI]
|
0.00033213
|
|
|
craniorhiny
|
[NCBI]
|
0.00033213
|
|
|
chondrodysplasia punctata, autosomal dominant
|
[NCBI]
|
0.000286779
|
|
|
cleft, median, of upper lip with polyps of facial skin and nasal mucosa
|
[NCBI]
|
0.000253735
|
|
|
TRPS3
|
[NCBI]
|
0.00023703
|
|
|
cerebrofrontofacial syndrome
|
[NCBI]
|
0.000224246
|
|
|
vitamin k-dependent clotting factors, combined deficiency of, 1
|
[NCBI]
|
0.000224246
|
|
|
GNRH1
|
[NCBI]
|
0.000183377
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.000173311
|
|
|
MBS
|
[NCBI]
|
0.000173311
|
|
|
PCD
|
[NCBI]
|
0.000171378
|
|
|
frontoocular syndrome
|
[NCBI]
|
0.000165967
|
|
|
nose, anomalous shape of
|
[NCBI]
|
0.000165967
|
|
|
bifid nose
|
[NCBI]
|
0.000165967
|
|
|
megaepiphyseal dwarfism
|
[NCBI]
|
0.000165967
|
|
|
rhiny
|
[NCBI]
|
0.000165967
|
|
|
hairy nose tip
|
[NCBI]
|
0.000165967
|
|
|
bifid nose, renal agenesis, and anorectal malformations
|
[NCBI]
|
0.000165967
|
|
|
nasal hyperpigmentation, familial transverse
|
[NCBI]
|
0.000165967
|
|
|
kapur-toriello syndrome
|
[NCBI]
|
0.000165967
|
|
|
crumpled helices and small mouth
|
[NCBI]
|
0.000165967
|
|
|
trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
|
[NCBI]
|
0.000165967
|
|
|
deafness-craniofacial syndrome
|
[NCBI]
|
0.000165967
|
|
|
frontonasal dysplasia
|
[NCBI]
|
0.000165967
|
|
|
acrofrontofacionasal dysostosis syndrome
|
[NCBI]
|
0.000165967
|
|
|
SLE
|
[NCBI]
|
0.000163542
|
|
|
holoprosencephaly
|
[NCBI]
|
0.000158355
|
|
|
ABS
|
[NCBI]
|
0.000155514
|
|
|
FRNS
|
[NCBI]
|
0.000151455
|
|
|
ODDD
|
[NCBI]
|
0.000138852
|
|
|
EEC1
|
[NCBI]
|
0.000138667
|
|
|
nasal alar collapse, bilateral
|
[NCBI]
|
0.000126771
|
|
|
tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
|
[NCBI]
|
0.000126771
|
|
|
multiple pterygium syndrome, aslan type
|
[NCBI]
|
0.000126771
|
|
|
mental retardation syndrome, mietens-weber type
|
[NCBI]
|
0.000126771
|
|
|
albinism, ocular, with sensorineural deafness
|
[NCBI]
|
0.000126771
|
|
|
brachymorphism-onychodysplasia-dysphalangism syndrome
|
[NCBI]
|
0.000112027
|
|
|
brachycephaly, deafness, cataract, microstomia, and mental retardation
|
[NCBI]
|
0.000112027
|
|
|
neurofaciodigitorenal syndrome
|
[NCBI]
|
0.000112027
|
|
|
marshall syndrome
|
[NCBI]
|
0.000112027
|
|
|
PTHS
|
[NCBI]
|
0.000112027
|
|
|
RSTS
|
[NCBI]
|
0.000110202
|
|
|
RNASE3
|
[NCBI]
|
0.000102992
|
|
|
stapes ankylosis with broad thumb and toes
|
[NCBI]
|
0.00010248
|
|
|
coloboma of macula with type b brachydactyly
|
[NCBI]
|
0.00010248
|
|
|
WZS
|
[NCBI]
|
0.00010248
|
|
|
fryns microphthalmia syndrome
|
[NCBI]
|
0.00010248
|
|
|
mental retardation, fra12a type
|
[NCBI]
|
9.54021e-05
|
|
|
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome
|
[NCBI]
|
9.54021e-05
|
|
|
MLRD
|
[NCBI]
|
9.54021e-05
|
|
|
floating-harbor syndrome
|
[NCBI]
|
8.9778e-05
|
|
|
ruvalcaba syndrome
|
[NCBI]
|
8.9778e-05
|
|
|
pulmonary edema of mountaineers
|
[NCBI]
|
8.9778e-05
|
|
|
WS2A
|
[NCBI]
|
8.1134e-05
|
|
|
RNS
|
[NCBI]
|
7.7664e-05
|
|
|
opitz syndrome
|
[NCBI]
|
7.7664e-05
|
|
|
BDB1
|
[NCBI]
|
7.45902e-05
|
|
|
MCPH1
|
[NCBI]
|
7.45902e-05
|
|
|
kabuki syndrome
|
[NCBI]
|
7.21904e-05
|
|
|
MCOPS2
|
[NCBI]
|
6.70516e-05
|
|
|
COFS1
|
[NCBI]
|
6.49508e-05
|
|
|
mulibrey nanism
|
[NCBI]
|
6.30062e-05
|
|
|
heterotopia, periventricular, x-linked dominant
|
[NCBI]
|
6.30062e-05
|
|
|
septooptic dysplasia
|
[NCBI]
|
5.95056e-05
|
|
|
donohue syndrome
|
[NCBI]
|
5.95056e-05
|
|
|
CFTR
|
[NCBI]
|
5.74809e-05
|
|
|
SMMCI
|
[NCBI]
|
5.64249e-05
|
|
|
MTS
|
[NCBI]
|
5.50138e-05
|
|
|
SLOS
|
[NCBI]
|
5.46175e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
5.36774e-05
|
|
|
PAX6
|
[NCBI]
|
5.3523e-05
|
|
|
fraser syndrome
|
[NCBI]
|
5.00497e-05
|
|
|
epidermolysis bullosa with pyloric atresia
|
[NCBI]
|
5.00497e-05
|
|
|
UGT2A1
|
[NCBI]
|
4.91407e-05
|
|
|
OCA1A
|
[NCBI]
|
4.89497e-05
|
|
|
charge syndrome
|
[NCBI]
|
4.89497e-05
|
|
|
DA2A
|
[NCBI]
|
4.68877e-05
|
|
|
faciogenital dysplasia
|
[NCBI]
|
4.49877e-05
|
|
|
FDH
|
[NCBI]
|
4.49877e-05
|
|
|
RP3
|
[NCBI]
|
4.40914e-05
|
|
|
UBR1
|
[NCBI]
|
4.29292e-05
|
|
|
RCDP1
|
[NCBI]
|
4.23944e-05
|
|
|
FOXG1
|
[NCBI]
|
4.11115e-05
|
|
|
DGS
|
[NCBI]
|
3.80718e-05
|
|
|
GCPS
|
[NCBI]
|
3.79393e-05
|
|
|
WS1
|
[NCBI]
|
3.79393e-05
|
|
|
PKP1
|
[NCBI]
|
3.57285e-05
|
|
|
EN2
|
[NCBI]
|
3.57285e-05
|
|
|
FGD1
|
[NCBI]
|
3.5009e-05
|
|
|
TCOF
|
[NCBI]
|
3.47972e-05
|
|
|
EFNB1
|
[NCBI]
|
3.37565e-05
|
|
|
AN2
|
[NCBI]
|
3.3656e-05
|
|
|
ROR2
|
[NCBI]
|
3.2691e-05
|
|
|
OR1D2
|
[NCBI]
|
3.22124e-05
|
|
|
BPES
|
[NCBI]
|
3.10433e-05
|
|
|
EYA1
|
[NCBI]
|
3.09437e-05
|
|
|
HHT
|
[NCBI]
|
3.05574e-05
|
|
|
TD1
|
[NCBI]
|
3.00827e-05
|
|
|
ARX
|
[NCBI]
|
2.9867e-05
|
|
|
OSM
|
[NCBI]
|
2.96368e-05
|
|
|
IL13
|
[NCBI]
|
2.6696e-05
|
|
|
GSC
|
[NCBI]
|
2.31029e-05
|
|
|
ACP5
|
[NCBI]
|
2.30975e-05
|
|
|
TYR
|
[NCBI]
|
2.26095e-05
|
|
|
STAT6
|
[NCBI]
|
2.11148e-05
|
|
|
BBS
|
[NCBI]
|
1.97731e-05
|
|
|
MITF
|
[NCBI]
|
1.80632e-05
|
|
|
SHH
|
[NCBI]
|
1.76698e-05
|
|
|
RBP1
|
[NCBI]
|
1.75312e-05
|
|
|
CPI
|
[NCBI]
|
1.65837e-05
|
|
|
OPMD
|
[NCBI]
|
1.51049e-05
|
|
|
SST
|
[NCBI]
|
1.45556e-05
|
|
|
TLR2
|
[NCBI]
|
1.31885e-05
|
|
|
GJA1
|
[NCBI]
|
1.04409e-05
|
|
|
TTR
|
[NCBI]
|
9.99058e-06
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
9.73235e-06
|
|
|
MUC1
|
[NCBI]
|
8.90397e-06
|
|
|
CYP1A1
|
[NCBI]
|
7.83924e-06
|
|
|
GAPDH
|
[NCBI]
|
6.46165e-06
|
|
|
VDR
|
[NCBI]
|
4.69142e-06
|
|
|
TNF
|
[NCBI]
|
3.80856e-06
|
|
|
GFAP
|
[NCBI]
|
3.39729e-06
|
|
|
CF
|
[NCBI]
|
1.1884e-06
|
|
|
NGFB
|
[NCBI]
|
1.03598e-06
|
|
|
FA
|
[NCBI]
|
6.89476e-07
|
|
|
MPO
|
[NCBI]
|
5.35274e-07
|
|
|
NPY
|
[NCBI]
|
1.09328e-07
|
|
|
TH
|
[NCBI]
|
1.29573e-08
|
|