|
OMIM |
Link |
Information gain |
01 |
|
MACOM
|
[NCBI]
|
0.00368976
|
|
|
palpebral coloboma-lipoma syndrome
|
[NCBI]
|
0.00275815
|
|
|
charge syndrome
|
[NCBI]
|
0.00228185
|
|
|
CES
|
[NCBI]
|
0.00167519
|
|
|
cavitary optic disc anomalies
|
[NCBI]
|
0.00139778
|
|
|
arima syndrome
|
[NCBI]
|
0.00112818
|
|
|
PAX2
|
[NCBI]
|
0.00111153
|
|
|
papillorenal syndrome
|
[NCBI]
|
0.00108904
|
|
|
mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
|
[NCBI]
|
0.00108639
|
|
|
MCOPS1
|
[NCBI]
|
0.00101682
|
|
|
coloboma of macula
|
[NCBI]
|
0.000913502
|
|
|
MCOPCB1
|
[NCBI]
|
0.000913502
|
|
|
coloboma-obesity-hypogenitalism-mental retardation syndrome
|
[NCBI]
|
0.000913502
|
|
|
JBTS1
|
[NCBI]
|
0.000723062
|
|
|
MCOPCB2
|
[NCBI]
|
0.000696005
|
|
|
coloboma, ocular
|
[NCBI]
|
0.000642344
|
|
|
OFD9
|
[NCBI]
|
0.000490783
|
|
|
coloboma of macula with type b brachydactyly
|
[NCBI]
|
0.000422849
|
|
|
charge-like syndrome, x-linked
|
[NCBI]
|
0.000422849
|
|
|
MCOP1
|
[NCBI]
|
0.000406563
|
|
|
PCA
|
[NCBI]
|
0.000406563
|
|
|
iris coloboma with ptosis, hypertelorism, and mental retardation
|
[NCBI]
|
0.000382313
|
|
|
glaucoma-related pigment dispersion syndrome
|
[NCBI]
|
0.000332332
|
|
|
coloboma, uveal, with cleft lip and palate and mental retardation
|
[NCBI]
|
0.000316951
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.000314174
|
|
|
CHD7
|
[NCBI]
|
0.000291075
|
|
|
dubowitz syndrome
|
[NCBI]
|
0.0002706
|
|
|
VUR1
|
[NCBI]
|
0.000264512
|
|
|
AIC
|
[NCBI]
|
0.000253102
|
|
|
zunich neuroectodermal syndrome
|
[NCBI]
|
0.000249604
|
|
|
holoprosencephaly
|
[NCBI]
|
0.000219499
|
|
|
MCOPCB4
|
[NCBI]
|
0.000211177
|
|
|
coloboma of optic nerve
|
[NCBI]
|
0.000180246
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
0.000179972
|
|
|
coach syndrome
|
[NCBI]
|
0.00016628
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.000160262
|
|
|
SEMA3E
|
[NCBI]
|
0.000145
|
|
|
donnai-barrow syndrome
|
[NCBI]
|
0.000143409
|
|
|
BDB1
|
[NCBI]
|
0.00013025
|
|
|
mowat-wilson syndrome
|
[NCBI]
|
0.000116005
|
|
|
DRRS
|
[NCBI]
|
0.000109773
|
|
|
coloboma, ocular
|
[NCBI]
|
0.000105527
|
|
|
cataract, pulverulent, juvenile-onset
|
[NCBI]
|
0.000105527
|
|
|
MOTA
|
[NCBI]
|
0.000105527
|
|
|
coloboma of macula and skeletal anomalies
|
[NCBI]
|
0.000105527
|
|
|
bifid nose
|
[NCBI]
|
0.000105527
|
|
|
hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss
|
[NCBI]
|
0.000105527
|
|
|
RIEG1
|
[NCBI]
|
9.50021e-05
|
|
|
aortic arch interruption, facial palsy, and retinal coloboma
|
[NCBI]
|
8.30787e-05
|
|
|
biemond syndrome ii
|
[NCBI]
|
8.30787e-05
|
|
|
OAFNS
|
[NCBI]
|
8.30787e-05
|
|
|
craniofacial dysmorphism with ocular coloboma, absent corpus callosum, and aortic dilatation
|
[NCBI]
|
8.30787e-05
|
|
|
chondrodysplasia punctata syndrome
|
[NCBI]
|
8.30787e-05
|
|
|
CECR1
|
[NCBI]
|
8.18593e-05
|
|
|
PHACTR4
|
[NCBI]
|
8.18593e-05
|
|
|
cree mental retardation syndrome
|
[NCBI]
|
7.46206e-05
|
|
|
hydrocephalus with cerebellar agenesis
|
[NCBI]
|
7.46206e-05
|
|
|
MCOPCB3
|
[NCBI]
|
7.46206e-05
|
|
|
yemenite deaf-blind hypopigmentation syndrome
|
[NCBI]
|
7.46206e-05
|
|
|
heterochromia iridis
|
[NCBI]
|
7.46206e-05
|
|
|
hypomagnesemia, renal, with ocular involvement
|
[NCBI]
|
7.46206e-05
|
|
|
BPES
|
[NCBI]
|
7.25978e-05
|
|
|
RSTS
|
[NCBI]
|
6.9384e-05
|
|
|
oculopalatoskeletal syndrome
|
[NCBI]
|
6.91363e-05
|
|
|
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome
|
[NCBI]
|
6.50645e-05
|
|
|
GDF6
|
[NCBI]
|
6.28823e-05
|
|
|
loose anagen hair syndrome
|
[NCBI]
|
6.18244e-05
|
|
|
cleft, median, of upper lip with polyps of facial skin and nasal mucosa
|
[NCBI]
|
6.18244e-05
|
|
|
EYA2
|
[NCBI]
|
5.9507e-05
|
|
|
cerebrofrontofacial syndrome
|
[NCBI]
|
5.91341e-05
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
5.91341e-05
|
|
|
WHS
|
[NCBI]
|
5.74665e-05
|
|
|
AN1
|
[NCBI]
|
5.68344e-05
|
|
|
MAF
|
[NCBI]
|
5.49989e-05
|
|
|
serpentine fibula-polycystic kidney syndrome
|
[NCBI]
|
5.48268e-05
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
5.19146e-05
|
|
|
RB1
|
[NCBI]
|
5.05122e-05
|
|
|
oculocerebrocutaneous syndrome
|
[NCBI]
|
4.99946e-05
|
|
|
SFD
|
[NCBI]
|
4.63073e-05
|
|
|
PFM
|
[NCBI]
|
4.63073e-05
|
|
|
ROR2
|
[NCBI]
|
4.47134e-05
|
|
|
LRP2
|
[NCBI]
|
4.47134e-05
|
|
|
OPD2
|
[NCBI]
|
4.42601e-05
|
|
|
SHH
|
[NCBI]
|
4.35359e-05
|
|
|
mulibrey nanism
|
[NCBI]
|
4.333e-05
|
|
|
SMMCI
|
[NCBI]
|
4.2453e-05
|
|
|
RBP4
|
[NCBI]
|
4.19464e-05
|
|
|
SOX10
|
[NCBI]
|
4.01847e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
4.00886e-05
|
|
|
PITX2
|
[NCBI]
|
3.97895e-05
|
|
|
AFD1
|
[NCBI]
|
3.93755e-05
|
|
|
DA2A
|
[NCBI]
|
3.27345e-05
|
|
|
PAX6
|
[NCBI]
|
3.16207e-05
|
|
|
MITF
|
[NCBI]
|
2.86262e-05
|
|
|
AN2
|
[NCBI]
|
2.69429e-05
|
|
|
ABL
|
[NCBI]
|
2.42548e-05
|
|
|
TCOF
|
[NCBI]
|
2.28664e-05
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
2.22233e-05
|
|
|
hypogonadotropic hypogonadism
|
[NCBI]
|
1.95854e-05
|
|
|
BCNS
|
[NCBI]
|
1.01091e-05
|
|
|
DGS
|
[NCBI]
|
9.36085e-06
|
|
|
TH
|
[NCBI]
|
4.13958e-06
|
|
|
PWS
|
[NCBI]
|
2.97819e-09
|
|
|
RP
|
[NCBI]
|
2.53515e-09
|
|