|
OMIM |
Link |
Information gain |
01 |
|
aniridia, cerebellar ataxia, and mental deficiency
|
[NCBI]
|
0.00718229
|
|
|
glaucoma-related pigment dispersion syndrome
|
[NCBI]
|
0.00658208
|
|
|
WT1
|
[NCBI]
|
0.0028127
|
|
|
microcoria, congenital
|
[NCBI]
|
0.00193829
|
|
|
ectopia lentis with ectopia of pupil
|
[NCBI]
|
0.00161401
|
|
|
iris pattern
|
[NCBI]
|
0.00117939
|
|
|
IRID2
|
[NCBI]
|
0.00114615
|
|
|
CES
|
[NCBI]
|
0.00102389
|
|
|
VRNI
|
[NCBI]
|
0.000987124
|
|
|
dilution, pigmentary
|
[NCBI]
|
0.000869554
|
|
|
AN1
|
[NCBI]
|
0.000833157
|
|
|
AN2
|
[NCBI]
|
0.000734747
|
|
|
RIEG1
|
[NCBI]
|
0.000717333
|
|
|
IRID1
|
[NCBI]
|
0.000614614
|
|
|
mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
|
[NCBI]
|
0.000578709
|
|
|
macular edema, cystoid
|
[NCBI]
|
0.000578709
|
|
|
acrodysostosis
|
[NCBI]
|
0.0005423
|
|
|
heterochromia iridis
|
[NCBI]
|
0.000496741
|
|
|
coloboma, ocular
|
[NCBI]
|
0.00047251
|
|
|
GLC1A
|
[NCBI]
|
0.000464081
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
0.000460516
|
|
|
WS1
|
[NCBI]
|
0.000412298
|
|
|
iris coloboma with ptosis, hypertelorism, and mental retardation
|
[NCBI]
|
0.000401563
|
|
|
short syndrome
|
[NCBI]
|
0.000361627
|
|
|
aniridia, partial, with unilateral renal agenesis and psychomotor retardation
|
[NCBI]
|
0.000330969
|
|
|
SLE
|
[NCBI]
|
0.000282847
|
|
|
PITX2
|
[NCBI]
|
0.00026962
|
|
|
axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
|
[NCBI]
|
0.000252578
|
|
|
OCA1A
|
[NCBI]
|
0.000238633
|
|
|
charge syndrome
|
[NCBI]
|
0.000238633
|
|
|
FOXC1
|
[NCBI]
|
0.000212248
|
|
|
WS2A
|
[NCBI]
|
0.000204001
|
|
|
mowat-wilson syndrome
|
[NCBI]
|
0.000189848
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.000189736
|
|
|
wagr syndrome
|
[NCBI]
|
0.000183937
|
|
|
ALGS1
|
[NCBI]
|
0.000182456
|
|
|
SHEP3
|
[NCBI]
|
0.000165389
|
|
|
charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined
|
[NCBI]
|
0.000165389
|
|
|
congenital corneal opacities, cornea guttata, and corectopia
|
[NCBI]
|
0.000165389
|
|
|
dwarfism, mental retardation, and eye abnormality
|
[NCBI]
|
0.000165389
|
|
|
microspherophakia with hernia
|
[NCBI]
|
0.000165389
|
|
|
coloboma, ocular
|
[NCBI]
|
0.000165389
|
|
|
kapur-toriello syndrome
|
[NCBI]
|
0.000165389
|
|
|
craniofacial dysmorphism with ocular coloboma, absent corpus callosum, and aortic dilatation
|
[NCBI]
|
0.000165389
|
|
|
iris pigment layer, cleavage of
|
[NCBI]
|
0.000165389
|
|
|
iridogoniodysgenesis and skeletal anomalies
|
[NCBI]
|
0.000165389
|
|
|
ophthalmoplegia, familial total, with iris transillumination
|
[NCBI]
|
0.000165389
|
|
|
aniridia, microcornea, and spontaneously reabsorbed cataract
|
[NCBI]
|
0.000165389
|
|
|
mydriasis, congenital
|
[NCBI]
|
0.000165389
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
0.000154569
|
|
|
NGFB
|
[NCBI]
|
0.000145766
|
|
|
ODDD
|
[NCBI]
|
0.000137728
|
|
|
chondrodysplasia punctata syndrome
|
[NCBI]
|
0.000126194
|
|
|
coloboma, uveal, with cleft lip and palate and mental retardation
|
[NCBI]
|
0.000126194
|
|
|
yemenite deaf-blind hypopigmentation syndrome
|
[NCBI]
|
0.000126194
|
|
|
mental and growth retardation with amblyopia
|
[NCBI]
|
0.000126194
|
|
|
albinism, ocular, with sensorineural deafness
|
[NCBI]
|
0.000126194
|
|
|
HFM
|
[NCBI]
|
0.000120724
|
|
|
hydrocephalus with cerebellar agenesis
|
[NCBI]
|
0.000111452
|
|
|
epidermolysis bullosa simplex, ogna type
|
[NCBI]
|
0.000111452
|
|
|
charge-like syndrome, x-linked
|
[NCBI]
|
0.000111452
|
|
|
fundus dystrophy, pseudoinflammatory, recessive form
|
[NCBI]
|
0.000111452
|
|
|
mydriatic response to pharmacologic agents
|
[NCBI]
|
0.000111452
|
|
|
GUD
|
[NCBI]
|
0.000111452
|
|
|
keratitis, hereditary
|
[NCBI]
|
0.000111452
|
|
|
WBS
|
[NCBI]
|
9.61175e-05
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
9.48306e-05
|
|
|
peters anomaly
|
[NCBI]
|
9.48306e-05
|
|
|
foveal hypoplasia and presenile cataract syndrome
|
[NCBI]
|
8.92081e-05
|
|
|
donnai-barrow syndrome
|
[NCBI]
|
8.92081e-05
|
|
|
SHEP1
|
[NCBI]
|
8.45464e-05
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
8.45464e-05
|
|
|
disorganization, mouse, homolog of
|
[NCBI]
|
8.05675e-05
|
|
|
peters-plus syndrome
|
[NCBI]
|
8.05675e-05
|
|
|
antigen defined by monoclonal antibody f10.44.2
|
[NCBI]
|
7.90707e-05
|
|
|
crouzon syndrome
|
[NCBI]
|
7.70991e-05
|
|
|
HPS2
|
[NCBI]
|
7.70991e-05
|
|
|
ACHE
|
[NCBI]
|
7.34631e-05
|
|
|
HRAS
|
[NCBI]
|
7.21231e-05
|
|
|
scheie syndrome
|
[NCBI]
|
7.12715e-05
|
|
|
HSS
|
[NCBI]
|
7.12715e-05
|
|
|
XFS
|
[NCBI]
|
7.12715e-05
|
|
|
SFD
|
[NCBI]
|
6.87748e-05
|
|
|
waardenburg-shah syndrome
|
[NCBI]
|
6.43944e-05
|
|
|
OPD2
|
[NCBI]
|
6.43944e-05
|
|
|
OCA2
|
[NCBI]
|
6.43944e-05
|
|
|
MYOC
|
[NCBI]
|
6.25169e-05
|
|
|
KTCN1
|
[NCBI]
|
6.24514e-05
|
|
|
PAX6
|
[NCBI]
|
6.05178e-05
|
|
|
AL-A1
|
[NCBI]
|
5.89106e-05
|
|
|
HPS
|
[NCBI]
|
5.61668e-05
|
|
|
SMMCI
|
[NCBI]
|
5.58768e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
5.18655e-05
|
|
|
PFM
|
[NCBI]
|
5.06597e-05
|
|
|
hyperglycerolemia
|
[NCBI]
|
4.6353e-05
|
|
|
POAG
|
[NCBI]
|
4.44564e-05
|
|
|
NF2
|
[NCBI]
|
4.44564e-05
|
|
|
RTS
|
[NCBI]
|
4.02889e-05
|
|
|
NF1
|
[NCBI]
|
4.001e-05
|
|
|
PDLIM2
|
[NCBI]
|
3.9518e-05
|
|
|
GMDS
|
[NCBI]
|
3.9518e-05
|
|
|
FOXL1
|
[NCBI]
|
3.9518e-05
|
|
|
TH
|
[NCBI]
|
3.83738e-05
|
|
|
PEDF
|
[NCBI]
|
3.79648e-05
|
|
|
MPO
|
[NCBI]
|
3.67851e-05
|
|
|
TRPS2
|
[NCBI]
|
3.61158e-05
|
|
|
RSTS
|
[NCBI]
|
3.61158e-05
|
|
|
UBL5
|
[NCBI]
|
3.57572e-05
|
|
|
OPTC
|
[NCBI]
|
3.57572e-05
|
|
|
TCOF
|
[NCBI]
|
3.42893e-05
|
|
|
NPS
|
[NCBI]
|
3.37129e-05
|
|
|
GPNMB
|
[NCBI]
|
3.33175e-05
|
|
|
TRPM3
|
[NCBI]
|
3.33175e-05
|
|
|
FOXF2
|
[NCBI]
|
3.33175e-05
|
|
|
CAT
|
[NCBI]
|
3.32509e-05
|
|
|
HGPS
|
[NCBI]
|
3.26043e-05
|
|
|
NPY
|
[NCBI]
|
3.21528e-05
|
|
|
PDGFD
|
[NCBI]
|
3.15053e-05
|
|
|
BPES
|
[NCBI]
|
3.05471e-05
|
|
|
EGF
|
[NCBI]
|
2.78981e-05
|
|
|
FOXF1
|
[NCBI]
|
2.69441e-05
|
|
|
EYA2
|
[NCBI]
|
2.61497e-05
|
|
|
NES
|
[NCBI]
|
2.61497e-05
|
|
|
CYP1B1
|
[NCBI]
|
2.61497e-05
|
|
|
pta deficiency
|
[NCBI]
|
2.47876e-05
|
|
|
TFAP2A
|
[NCBI]
|
2.47876e-05
|
|
|
COL18A1
|
[NCBI]
|
2.41942e-05
|
|
|
SIX3
|
[NCBI]
|
2.41942e-05
|
|
|
OTX2
|
[NCBI]
|
2.41942e-05
|
|
|
AP3B1
|
[NCBI]
|
2.41942e-05
|
|
|
CRX
|
[NCBI]
|
2.36472e-05
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
2.35858e-05
|
|
|
SLCO2A1
|
[NCBI]
|
2.26667e-05
|
|
|
FOXC2
|
[NCBI]
|
2.22238e-05
|
|
|
RBP4
|
[NCBI]
|
2.22238e-05
|
|
|
VEGF
|
[NCBI]
|
2.17435e-05
|
|
|
TCOF1
|
[NCBI]
|
2.14145e-05
|
|
|
LRP2
|
[NCBI]
|
2.03543e-05
|
|
|
TIMP3
|
[NCBI]
|
1.97285e-05
|
|
|
CRYAB
|
[NCBI]
|
1.94358e-05
|
|
|
SOX10
|
[NCBI]
|
1.86262e-05
|
|
|
VIP
|
[NCBI]
|
1.83857e-05
|
|
|
INS
|
[NCBI]
|
1.83677e-05
|
|
|
BCNS
|
[NCBI]
|
1.82854e-05
|
|
|
OA1
|
[NCBI]
|
1.79028e-05
|
|
|
leber optic atrophy
|
[NCBI]
|
1.77878e-05
|
|
|
TNF
|
[NCBI]
|
1.68774e-05
|
|
|
ADM
|
[NCBI]
|
1.68219e-05
|
|
|
SOX9
|
[NCBI]
|
1.62847e-05
|
|
|
RLBP1
|
[NCBI]
|
1.46962e-05
|
|
|
homocystinuria
|
[NCBI]
|
1.42863e-05
|
|
|
SMS
|
[NCBI]
|
1.41087e-05
|
|
|
ENPEP
|
[NCBI]
|
1.36562e-05
|
|
|
TYR
|
[NCBI]
|
1.3306e-05
|
|
|
GPT
|
[NCBI]
|
1.25571e-05
|
|
|
PG
|
[NCBI]
|
1.18884e-05
|
|
|
PTH
|
[NCBI]
|
1.14375e-05
|
|
|
MFS
|
[NCBI]
|
9.5074e-06
|
|
|
MITF
|
[NCBI]
|
9.05709e-06
|
|
|
RBP1
|
[NCBI]
|
8.57458e-06
|
|
|
IL6
|
[NCBI]
|
8.13106e-06
|
|
|
CRH
|
[NCBI]
|
7.16828e-06
|
|
|
CCK
|
[NCBI]
|
7.03945e-06
|
|
|
NGFR
|
[NCBI]
|
6.91193e-06
|
|
|
FAAH
|
[NCBI]
|
6.87465e-06
|
|
|
EGFR
|
[NCBI]
|
6.40345e-06
|
|
|
GAPDH
|
[NCBI]
|
6.01291e-06
|
|
|
SST
|
[NCBI]
|
5.96252e-06
|
|
|
PWS
|
[NCBI]
|
5.46543e-06
|
|
|
CHS
|
[NCBI]
|
5.26053e-06
|
|
|
AKR1B1
|
[NCBI]
|
4.57317e-06
|
|
|
IAPP
|
[NCBI]
|
4.1093e-06
|
|
|
CHAT
|
[NCBI]
|
4.04801e-06
|
|
|
HGF
|
[NCBI]
|
3.52014e-06
|
|
|
AR
|
[NCBI]
|
2.89762e-06
|
|
|
GFAP
|
[NCBI]
|
2.84345e-06
|
|
|
GJA1
|
[NCBI]
|
2.72965e-06
|
|
|
TTR
|
[NCBI]
|
2.41719e-06
|
|
|
GAL
|
[NCBI]
|
1.69357e-06
|
|
|
CTGF
|
[NCBI]
|
1.15627e-06
|
|
|
PYY
|
[NCBI]
|
1.13687e-06
|
|
|
RP
|
[NCBI]
|
9.41084e-07
|
|
|
CFTR
|
[NCBI]
|
9.37733e-07
|
|
|
MBP
|
[NCBI]
|
9.32313e-07
|
|
|
TNFSF6
|
[NCBI]
|
3.91181e-07
|
|
|
APOE
|
[NCBI]
|
1.88871e-07
|
|
|
POMC
|
[NCBI]
|
1.85936e-07
|
|
|
BDNF
|
[NCBI]
|
7.79343e-09
|
|
|
GDNF
|
[NCBI]
|
9.30362e-11
|
|