|
OMIM |
Link |
Information gain |
01 |
|
VRNI
|
[NCBI]
|
0.0336528
|
|
|
VRCP
|
[NCBI]
|
0.00161324
|
|
|
EVR1
|
[NCBI]
|
0.00101012
|
|
|
ehlers-danlos syndrome, type vib
|
[NCBI]
|
0.000970561
|
|
|
STL1
|
[NCBI]
|
0.000888965
|
|
|
persistent hyperplastic primary vitreous, autosomal recessive
|
[NCBI]
|
0.000877537
|
|
|
flynn-aird syndrome
|
[NCBI]
|
0.000653734
|
|
|
arteriosclerosis, severe juvenile
|
[NCBI]
|
0.000653734
|
|
|
mental retardation, truncal obesity, retinal dystrophy, and micropenis
|
[NCBI]
|
0.000653734
|
|
|
OCP
|
[NCBI]
|
0.000517303
|
|
|
AIED
|
[NCBI]
|
0.000439607
|
|
|
CACD
|
[NCBI]
|
0.000438244
|
|
|
persistent hyperplastic primary vitreous, autosomal dominant
|
[NCBI]
|
0.000438244
|
|
|
glaucoma-related pigment dispersion syndrome
|
[NCBI]
|
0.000395113
|
|
|
EVR2
|
[NCBI]
|
0.000363162
|
|
|
RA
|
[NCBI]
|
0.000360429
|
|
|
vitreoretinal degeneration, snowflake type
|
[NCBI]
|
0.000358447
|
|
|
macular dystrophy, butterfly-shaped pigmentary, 2
|
[NCBI]
|
0.000358447
|
|
|
COL2A1
|
[NCBI]
|
0.000347409
|
|
|
VMD
|
[NCBI]
|
0.000335537
|
|
|
EVR3
|
[NCBI]
|
0.000307493
|
|
|
CNA1
|
[NCBI]
|
0.000307493
|
|
|
chorioretinal atrophy, progressive bifocal
|
[NCBI]
|
0.000307493
|
|
|
CORD8
|
[NCBI]
|
0.000307493
|
|
|
XFS
|
[NCBI]
|
0.000296866
|
|
|
dyskeratosis, hereditary benign intraepithelial
|
[NCBI]
|
0.000270237
|
|
|
CORD7
|
[NCBI]
|
0.000270237
|
|
|
microcephaly with chorioretinopathy, autosomal recessive
|
[NCBI]
|
0.000270237
|
|
|
ehlers-danlos syndrome, type vi
|
[NCBI]
|
0.000261441
|
|
|
TTR
|
[NCBI]
|
0.000256011
|
|
|
visceral myopathy, familial, with external ophthalmoplegia
|
[NCBI]
|
0.00024105
|
|
|
trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina
|
[NCBI]
|
0.00024105
|
|
|
SPG15
|
[NCBI]
|
0.00024105
|
|
|
OPPG
|
[NCBI]
|
0.000220767
|
|
|
CHED1
|
[NCBI]
|
0.000217195
|
|
|
RCD1
|
[NCBI]
|
0.000217195
|
|
|
stickler syndrome, type i, nonsyndromic ocular
|
[NCBI]
|
0.000210482
|
|
|
ornithine aminotransferase deficiency
|
[NCBI]
|
0.000197158
|
|
|
ocular motor apraxia
|
[NCBI]
|
0.000197129
|
|
|
oculocerebral syndrome with hypopigmentation
|
[NCBI]
|
0.000197129
|
|
|
CFEOM3
|
[NCBI]
|
0.000197129
|
|
|
RIEG1
|
[NCBI]
|
0.000185558
|
|
|
JBTS7
|
[NCBI]
|
0.000185105
|
|
|
HYPX
|
[NCBI]
|
0.000179896
|
|
|
amyloidosis vii
|
[NCBI]
|
0.000173682
|
|
|
WZS
|
[NCBI]
|
0.000164433
|
|
|
IP
|
[NCBI]
|
0.000163548
|
|
|
OCA2
|
[NCBI]
|
0.000163234
|
|
|
WGN1
|
[NCBI]
|
0.000156704
|
|
|
PXE
|
[NCBI]
|
0.000152605
|
|
|
kenny-caffey syndrome, type 2
|
[NCBI]
|
0.000151586
|
|
|
CHM
|
[NCBI]
|
0.00014195
|
|
|
ESCS
|
[NCBI]
|
0.000141601
|
|
|
RPGRIP1L
|
[NCBI]
|
0.00013791
|
|
|
SLE
|
[NCBI]
|
0.000136957
|
|
|
tyrosine transaminase deficiency
|
[NCBI]
|
0.000126494
|
|
|
CBBM
|
[NCBI]
|
0.000119468
|
|
|
OCRL
|
[NCBI]
|
0.000114911
|
|
|
AN1
|
[NCBI]
|
0.0001125
|
|
|
patterned dystrophy of retinal pigment epithelium
|
[NCBI]
|
0.0001125
|
|
|
sjogren syndrome
|
[NCBI]
|
0.000110702
|
|
|
MEB
|
[NCBI]
|
0.000109477
|
|
|
KNO
|
[NCBI]
|
0.000104416
|
|
|
lymphedema, microcephaly, chorioretinopathy syndrome
|
[NCBI]
|
0.000102686
|
|
|
OA1
|
[NCBI]
|
0.000102177
|
|
|
IRID2
|
[NCBI]
|
9.79948e-05
|
|
|
schinzel-giedion midface-retraction syndrome
|
[NCBI]
|
9.5327e-05
|
|
|
CSA
|
[NCBI]
|
9.35295e-05
|
|
|
PEDF
|
[NCBI]
|
9.28693e-05
|
|
|
spondylometaphyseal dysplasia, axial
|
[NCBI]
|
9.2525e-05
|
|
|
blepharochalasis, superior
|
[NCBI]
|
9.2525e-05
|
|
|
ophthalmoplegia, progressive, with scrotal tongue and mental deficiency
|
[NCBI]
|
9.2525e-05
|
|
|
dwarfism, mental retardation, and eye abnormality
|
[NCBI]
|
9.2525e-05
|
|
|
MKS5
|
[NCBI]
|
9.2525e-05
|
|
|
iris pigment layer, cleavage of
|
[NCBI]
|
9.2525e-05
|
|
|
kyrle disease
|
[NCBI]
|
9.2525e-05
|
|
|
glaucoma with elevated episcleral venous pressure
|
[NCBI]
|
9.2525e-05
|
|
|
craniosynostosis with ocular abnormalities and hallucal defects
|
[NCBI]
|
9.2525e-05
|
|
|
stormorken syndrome
|
[NCBI]
|
9.2525e-05
|
|
|
retinal telangiectasia and hypogammaglobulinemia
|
[NCBI]
|
9.2525e-05
|
|
|
pseudoxanthoma elasticum, forme fruste
|
[NCBI]
|
8.60914e-05
|
|
|
CACNA1F
|
[NCBI]
|
8.25344e-05
|
|
|
ND
|
[NCBI]
|
8.18979e-05
|
|
|
COL11A2
|
[NCBI]
|
8.09492e-05
|
|
|
COL11A1
|
[NCBI]
|
8.09492e-05
|
|
|
lymphedema-distichiasis syndrome
|
[NCBI]
|
7.75343e-05
|
|
|
FED
|
[NCBI]
|
7.46902e-05
|
|
|
LRP5
|
[NCBI]
|
7.24405e-05
|
|
|
homocystinuria
|
[NCBI]
|
7.16995e-05
|
|
|
retinal dystrophy, reticular pigmentary, of posterior pole
|
[NCBI]
|
7.01062e-05
|
|
|
frontoocular syndrome
|
[NCBI]
|
7.01062e-05
|
|
|
lymphedema and ptosis
|
[NCBI]
|
7.01062e-05
|
|
|
aplasia cutis congenita, high myopia, and cone-rod dysfunction
|
[NCBI]
|
7.01062e-05
|
|
|
epiphyseal dysplasia, multiple, with myopia and conductive deafness
|
[NCBI]
|
7.01062e-05
|
|
|
CDS1
|
[NCBI]
|
6.89198e-05
|
|
|
CABP1
|
[NCBI]
|
6.89198e-05
|
|
|
CDS2
|
[NCBI]
|
6.89198e-05
|
|
|
LBX2
|
[NCBI]
|
6.89198e-05
|
|
|
CABP2
|
[NCBI]
|
6.89198e-05
|
|
|
TULP2
|
[NCBI]
|
6.89198e-05
|
|
|
PITX2
|
[NCBI]
|
6.80491e-05
|
|
|
PDE6B
|
[NCBI]
|
6.38281e-05
|
|
|
fibrosis of extraocular muscles, congenital, with synergistic divergence
|
[NCBI]
|
6.16778e-05
|
|
|
drusen of bruch membrane
|
[NCBI]
|
6.16778e-05
|
|
|
heterochromia iridis
|
[NCBI]
|
6.16778e-05
|
|
|
NDP
|
[NCBI]
|
6.14529e-05
|
|
|
acrogeria, gottron type
|
[NCBI]
|
5.62233e-05
|
|
|
CFEOM2
|
[NCBI]
|
5.62233e-05
|
|
|
HANAC
|
[NCBI]
|
5.62233e-05
|
|
|
pars planitis
|
[NCBI]
|
5.62233e-05
|
|
|
COH1
|
[NCBI]
|
5.61793e-05
|
|
|
ATS
|
[NCBI]
|
5.61793e-05
|
|
|
CSPG2
|
[NCBI]
|
5.51487e-05
|
|
|
RIMS1
|
[NCBI]
|
5.51487e-05
|
|
|
pseudopapilledema
|
[NCBI]
|
5.21812e-05
|
|
|
corneal fleck dystrophy
|
[NCBI]
|
5.21812e-05
|
|
|
PAX6
|
[NCBI]
|
5.16299e-05
|
|
|
MFS
|
[NCBI]
|
5.06846e-05
|
|
|
ITPKC
|
[NCBI]
|
4.99569e-05
|
|
|
BFSP1
|
[NCBI]
|
4.99569e-05
|
|
|
chiari malformation type i
|
[NCBI]
|
4.91484e-05
|
|
|
CNA2
|
[NCBI]
|
4.89709e-05
|
|
|
STL3
|
[NCBI]
|
4.89709e-05
|
|
|
cystinosis, adult nonnephropathic
|
[NCBI]
|
4.89709e-05
|
|
|
GFAP
|
[NCBI]
|
4.83431e-05
|
|
|
KSS
|
[NCBI]
|
4.64015e-05
|
|
|
CINCA
|
[NCBI]
|
4.63103e-05
|
|
|
PPCRA
|
[NCBI]
|
4.63103e-05
|
|
|
renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
|
[NCBI]
|
4.63103e-05
|
|
|
STL2
|
[NCBI]
|
4.63103e-05
|
|
|
AIC
|
[NCBI]
|
4.55765e-05
|
|
|
BID
|
[NCBI]
|
4.40866e-05
|
|
|
MATN1
|
[NCBI]
|
4.40866e-05
|
|
|
WARBM
|
[NCBI]
|
4.40404e-05
|
|
|
rokitansky-kuster-hauser syndrome
|
[NCBI]
|
4.40404e-05
|
|
|
phace association
|
[NCBI]
|
4.40404e-05
|
|
|
rheumatoid arthritis, systemic juvenile
|
[NCBI]
|
4.40404e-05
|
|
|
bietti crystalline corneoretinal dystrophy
|
[NCBI]
|
4.40404e-05
|
|
|
NYS1
|
[NCBI]
|
4.20626e-05
|
|
|
MG
|
[NCBI]
|
4.14122e-05
|
|
|
ASMD
|
[NCBI]
|
4.03115e-05
|
|
|
weill-marchesani syndrome, autosomal recessive
|
[NCBI]
|
4.03115e-05
|
|
|
ID3
|
[NCBI]
|
3.90245e-05
|
|
|
RDH5
|
[NCBI]
|
3.90245e-05
|
|
|
IRID1
|
[NCBI]
|
3.87416e-05
|
|
|
de sanctis-cacchione syndrome
|
[NCBI]
|
3.87416e-05
|
|
|
macular dystrophy, vitelliform, adult-onset
|
[NCBI]
|
3.87416e-05
|
|
|
HRD
|
[NCBI]
|
3.87416e-05
|
|
|
KCS
|
[NCBI]
|
3.87416e-05
|
|
|
sturge-weber syndrome
|
[NCBI]
|
3.87416e-05
|
|
|
schwannomatosis
|
[NCBI]
|
3.73197e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive
|
[NCBI]
|
3.60211e-05
|
|
|
TULP1
|
[NCBI]
|
3.57051e-05
|
|
|
COL18A1
|
[NCBI]
|
3.48098e-05
|
|
|
CRYBB2
|
[NCBI]
|
3.48098e-05
|
|
|
HHT
|
[NCBI]
|
3.37395e-05
|
|
|
SFD
|
[NCBI]
|
3.37216e-05
|
|
|
CFEOM1
|
[NCBI]
|
3.37216e-05
|
|
|
kniest dysplasia
|
[NCBI]
|
3.37216e-05
|
|
|
sarcoidosis
|
[NCBI]
|
3.2694e-05
|
|
|
kawasaki disease
|
[NCBI]
|
3.2694e-05
|
|
|
marshall syndrome
|
[NCBI]
|
3.2694e-05
|
|
|
MCOLN1
|
[NCBI]
|
3.25334e-05
|
|
|
pearson marrow-pancreas syndrome
|
[NCBI]
|
3.1734e-05
|
|
|
CTNS
|
[NCBI]
|
3.12678e-05
|
|
|
PPCD1
|
[NCBI]
|
3.08337e-05
|
|
|
papillorenal syndrome
|
[NCBI]
|
3.08337e-05
|
|
|
DHRD
|
[NCBI]
|
3.08337e-05
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
3.08337e-05
|
|
|
DRRS
|
[NCBI]
|
3.08337e-05
|
|
|
mulibrey nanism
|
[NCBI]
|
3.08337e-05
|
|
|
keratitis-ichthyosis-deafness syndrome, autosomal dominant
|
[NCBI]
|
3.08337e-05
|
|
|
FN1
|
[NCBI]
|
3.06924e-05
|
|
|
FOXL2
|
[NCBI]
|
3.01495e-05
|
|
|
GLDC
|
[NCBI]
|
3.01495e-05
|
|
|
SMS
|
[NCBI]
|
2.98517e-05
|
|
|
HLA-DQB1
|
[NCBI]
|
2.86843e-05
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
2.84297e-05
|
|
|
KTCN1
|
[NCBI]
|
2.84297e-05
|
|
|
PAX2
|
[NCBI]
|
2.82419e-05
|
|
|
SLSN1
|
[NCBI]
|
2.7028e-05
|
|
|
CSNB1A
|
[NCBI]
|
2.63768e-05
|
|
|
HSS
|
[NCBI]
|
2.63768e-05
|
|
|
BTC
|
[NCBI]
|
2.62952e-05
|
|
|
LCAT
|
[NCBI]
|
2.57385e-05
|
|
|
MADA
|
[NCBI]
|
2.51603e-05
|
|
|
COL4A5
|
[NCBI]
|
2.49837e-05
|
|
|
VHL
|
[NCBI]
|
2.46652e-05
|
|
|
ABCC6
|
[NCBI]
|
2.43911e-05
|
|
|
PRPH2
|
[NCBI]
|
2.35674e-05
|
|
|
STGD1
|
[NCBI]
|
2.35186e-05
|
|
|
RS1
|
[NCBI]
|
2.30564e-05
|
|
|
MTATP6
|
[NCBI]
|
2.28112e-05
|
|
|
APCS
|
[NCBI]
|
2.25723e-05
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
2.25267e-05
|
|
|
LCA1
|
[NCBI]
|
2.25267e-05
|
|
|
gaucher disease, type iii
|
[NCBI]
|
2.25267e-05
|
|
|
ABCA4
|
[NCBI]
|
2.23395e-05
|
|
|
temporal arteritis
|
[NCBI]
|
2.21174e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
2.21124e-05
|
|
|
fraser syndrome
|
[NCBI]
|
2.20575e-05
|
|
|
HMI
|
[NCBI]
|
2.14634e-05
|
|
|
graves disease
|
[NCBI]
|
2.11672e-05
|
|
|
RP2
|
[NCBI]
|
2.10551e-05
|
|
|
usher syndrome, type i
|
[NCBI]
|
2.03348e-05
|
|
|
FCAS
|
[NCBI]
|
2.03348e-05
|
|
|
FIH
|
[NCBI]
|
1.99383e-05
|
|
|
apert syndrome
|
[NCBI]
|
1.99383e-05
|
|
|
GLC1A
|
[NCBI]
|
1.9554e-05
|
|
|
TSHR
|
[NCBI]
|
1.90907e-05
|
|
|
walker-warburg syndrome
|
[NCBI]
|
1.84679e-05
|
|
|
BCNS
|
[NCBI]
|
1.77216e-05
|
|
|
IDUA
|
[NCBI]
|
1.74842e-05
|
|
|
TF
|
[NCBI]
|
1.74799e-05
|
|
|
XPA
|
[NCBI]
|
1.71564e-05
|
|
|
MITF
|
[NCBI]
|
1.62446e-05
|
|
|
CDG1A
|
[NCBI]
|
1.59764e-05
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
1.57952e-05
|
|
|
AN2
|
[NCBI]
|
1.5429e-05
|
|
|
CES
|
[NCBI]
|
1.5165e-05
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
1.49071e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
1.49071e-05
|
|
|
CTNS
|
[NCBI]
|
1.46551e-05
|
|
|
PTH
|
[NCBI]
|
1.46272e-05
|
|
|
CHS
|
[NCBI]
|
1.40651e-05
|
|
|
SCA7
|
[NCBI]
|
1.39322e-05
|
|
|
FCMD
|
[NCBI]
|
1.39322e-05
|
|
|
WS1
|
[NCBI]
|
1.30388e-05
|
|
|
RSTS
|
[NCBI]
|
1.28269e-05
|
|
|
NF2
|
[NCBI]
|
1.24158e-05
|
|
|
ARMD1
|
[NCBI]
|
1.22163e-05
|
|
|
TLR2
|
[NCBI]
|
1.18109e-05
|
|
|
LSA
|
[NCBI]
|
1.14564e-05
|
|
|
ALGS1
|
[NCBI]
|
1.12753e-05
|
|
|
apc gene
|
[NCBI]
|
1.05869e-05
|
|
|
AKR1B1
|
[NCBI]
|
1.01494e-05
|
|
|
LPI
|
[NCBI]
|
1.00967e-05
|
|
|
alport syndrome, autosomal dominant
|
[NCBI]
|
9.79338e-06
|
|
|
SLS
|
[NCBI]
|
9.48602e-06
|
|
|
RP
|
[NCBI]
|
8.87155e-06
|
|
|
PPR
|
[NCBI]
|
8.70141e-06
|
|
|
JMML
|
[NCBI]
|
8.00234e-06
|
|
|
CP
|
[NCBI]
|
7.3274e-06
|
|
|
NS1
|
[NCBI]
|
7.29602e-06
|
|
|
proteus syndrome
|
[NCBI]
|
6.75313e-06
|
|
|
APS1
|
[NCBI]
|
6.65124e-06
|
|
|
TNF
|
[NCBI]
|
6.5615e-06
|
|
|
PCNA
|
[NCBI]
|
6.37888e-06
|
|
|
RNASE3
|
[NCBI]
|
5.80541e-06
|
|
|
CDLS1
|
[NCBI]
|
5.43376e-06
|
|
|
TPO
|
[NCBI]
|
5.28303e-06
|
|
|
fabry disease
|
[NCBI]
|
5.26561e-06
|
|
|
ZS
|
[NCBI]
|
5.18328e-06
|
|
|
AT
|
[NCBI]
|
4.868e-06
|
|
|
BBS
|
[NCBI]
|
4.56402e-06
|
|
|
SHH
|
[NCBI]
|
4.55018e-06
|
|
|
behcet syndrome
|
[NCBI]
|
4.37122e-06
|
|
|
OPMD
|
[NCBI]
|
4.14198e-06
|
|
|
SOD2
|
[NCBI]
|
3.65938e-06
|
|
|
XDH
|
[NCBI]
|
3.15852e-06
|
|
|
HPS
|
[NCBI]
|
2.95719e-06
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
2.25649e-06
|
|
|
EGF
|
[NCBI]
|
1.88942e-06
|
|
|
APC
|
[NCBI]
|
1.75108e-06
|
|
|
DGS
|
[NCBI]
|
1.75091e-06
|
|
|
VEGF
|
[NCBI]
|
1.46984e-06
|
|
|
MPO
|
[NCBI]
|
1.27663e-06
|
|
|
ALD
|
[NCBI]
|
1.11717e-06
|
|
|
SHBG
|
[NCBI]
|
1.05242e-06
|
|
|
CHAT
|
[NCBI]
|
9.90789e-07
|
|
|
HD
|
[NCBI]
|
8.58402e-07
|
|
|
TS
|
[NCBI]
|
2.43067e-07
|
|
|
NGFB
|
[NCBI]
|
1.44094e-07
|
|
|
EGFR
|
[NCBI]
|
1.35403e-07
|
|
|
AS
|
[NCBI]
|
7.29733e-08
|
|
|
CAT
|
[NCBI]
|
7.14938e-08
|
|
|
TNFSF6
|
[NCBI]
|
6.49815e-08
|
|
|
BDNF
|
[NCBI]
|
6.3064e-08
|
|
|
CFTR
|
[NCBI]
|
3.13379e-08
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
2.27057e-08
|
|
|
TG
|
[NCBI]
|
2.94037e-09
|
|
|
F3
|
[NCBI]
|
1.22353e-10
|
|