|
OMIM |
Link |
Information gain |
01 |
|
RP
|
[NCBI]
|
0.00434646
|
|
|
chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
|
[NCBI]
|
0.00263825
|
|
|
vitreoretinal degeneration, snowflake type
|
[NCBI]
|
0.0025352
|
|
|
MCDR1
|
[NCBI]
|
0.00248607
|
|
|
chorioretinal atrophy, progressive bifocal
|
[NCBI]
|
0.00218225
|
|
|
trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina
|
[NCBI]
|
0.00188343
|
|
|
RCD1
|
[NCBI]
|
0.00178642
|
|
|
knobloch syndrome, type ii
|
[NCBI]
|
0.00168643
|
|
|
retinal cone dystrophy 2
|
[NCBI]
|
0.00168643
|
|
|
CORD5
|
[NCBI]
|
0.00125196
|
|
|
ESCS
|
[NCBI]
|
0.00117283
|
|
|
macular edema, cystoid
|
[NCBI]
|
0.00115953
|
|
|
PRPH2
|
[NCBI]
|
0.00112585
|
|
|
CORD2
|
[NCBI]
|
0.00100147
|
|
|
ATD1
|
[NCBI]
|
0.000934963
|
|
|
peripheral cone dystrophy
|
[NCBI]
|
0.000841397
|
|
|
oculorenocerebellar syndrome
|
[NCBI]
|
0.000841397
|
|
|
ornithine aminotransferase deficiency
|
[NCBI]
|
0.000803455
|
|
|
PDE6B
|
[NCBI]
|
0.00079131
|
|
|
persistent hyperplastic primary vitreous, autosomal dominant
|
[NCBI]
|
0.000624176
|
|
|
CNTF
|
[NCBI]
|
0.000614213
|
|
|
RS1
|
[NCBI]
|
0.000579389
|
|
|
WGN1
|
[NCBI]
|
0.000553673
|
|
|
cone-rod dystrophy and amelogenesis imperfecta
|
[NCBI]
|
0.000542647
|
|
|
SCA7
|
[NCBI]
|
0.000542069
|
|
|
ALMS
|
[NCBI]
|
0.000534128
|
|
|
STGD1
|
[NCBI]
|
0.000521671
|
|
|
VRCP
|
[NCBI]
|
0.000489961
|
|
|
persistent hyperplastic primary vitreous, autosomal recessive
|
[NCBI]
|
0.000489961
|
|
|
MYP3
|
[NCBI]
|
0.000489961
|
|
|
CORD8
|
[NCBI]
|
0.000489961
|
|
|
RHO
|
[NCBI]
|
0.000476599
|
|
|
bietti crystalline corneoretinal dystrophy
|
[NCBI]
|
0.000467848
|
|
|
microcephaly with chorioretinopathy, autosomal recessive
|
[NCBI]
|
0.000450974
|
|
|
SCRA
|
[NCBI]
|
0.000406663
|
|
|
SLSN1
|
[NCBI]
|
0.0004028
|
|
|
cerebellar ataxia and hypogonadotropic hypogonadism
|
[NCBI]
|
0.000394467
|
|
|
RCD3A
|
[NCBI]
|
0.00038266
|
|
|
cranioectodermal dysplasia
|
[NCBI]
|
0.000372668
|
|
|
CHM
|
[NCBI]
|
0.00035688
|
|
|
SPG5A
|
[NCBI]
|
0.000353703
|
|
|
RPE65
|
[NCBI]
|
0.000352034
|
|
|
KNO
|
[NCBI]
|
0.000338372
|
|
|
CORDX1
|
[NCBI]
|
0.000303069
|
|
|
GFAP
|
[NCBI]
|
0.000302666
|
|
|
SFD
|
[NCBI]
|
0.000296272
|
|
|
CBBM
|
[NCBI]
|
0.000284609
|
|
|
CORD3
|
[NCBI]
|
0.00028294
|
|
|
MYP2
|
[NCBI]
|
0.000274109
|
|
|
LORD
|
[NCBI]
|
0.000270113
|
|
|
COH1
|
[NCBI]
|
0.000261254
|
|
|
CRX
|
[NCBI]
|
0.000261029
|
|
|
ATXN7
|
[NCBI]
|
0.000261029
|
|
|
macular dystrophy, vitelliform, adult-onset
|
[NCBI]
|
0.000243799
|
|
|
BBS
|
[NCBI]
|
0.000243545
|
|
|
MERTK
|
[NCBI]
|
0.00023513
|
|
|
USH1C
|
[NCBI]
|
0.000230731
|
|
|
LCA1
|
[NCBI]
|
0.000230023
|
|
|
aceruloplasminemia
|
[NCBI]
|
0.000215141
|
|
|
PDE6G
|
[NCBI]
|
0.000212291
|
|
|
BDNF
|
[NCBI]
|
0.000196982
|
|
|
NR2E3
|
[NCBI]
|
0.000189694
|
|
|
ABCA4
|
[NCBI]
|
0.00018555
|
|
|
patterned dystrophy of retinal pigment epithelium
|
[NCBI]
|
0.000184632
|
|
|
retinal dystrophy, reticular pigmentary, of posterior pole
|
[NCBI]
|
0.000180029
|
|
|
reticular dystrophy of retinal pigment epithelium
|
[NCBI]
|
0.000180029
|
|
|
ALMS1
|
[NCBI]
|
0.000175805
|
|
|
NRL
|
[NCBI]
|
0.000170388
|
|
|
mucolipidosis iv
|
[NCBI]
|
0.000166547
|
|
|
LRAT
|
[NCBI]
|
0.000155479
|
|
|
VRNI
|
[NCBI]
|
0.000151187
|
|
|
retinopathy, pigmentary, and mental retardation
|
[NCBI]
|
0.000149137
|
|
|
COD3
|
[NCBI]
|
0.000149137
|
|
|
USH1C
|
[NCBI]
|
0.000142712
|
|
|
DHRD
|
[NCBI]
|
0.000139583
|
|
|
MFRP
|
[NCBI]
|
0.000136548
|
|
|
choroideremia with deafness and obesity
|
[NCBI]
|
0.000135209
|
|
|
CORD6
|
[NCBI]
|
0.000135209
|
|
|
GUCA1A
|
[NCBI]
|
0.00012533
|
|
|
OPN4
|
[NCBI]
|
0.000118516
|
|
|
PRCD
|
[NCBI]
|
0.000118516
|
|
|
PPEF1
|
[NCBI]
|
0.000118516
|
|
|
GNB1
|
[NCBI]
|
0.000118516
|
|
|
CACNA2D4
|
[NCBI]
|
0.000118516
|
|
|
stickler syndrome, type i, nonsyndromic ocular
|
[NCBI]
|
0.00011837
|
|
|
CRB1
|
[NCBI]
|
0.000117268
|
|
|
TULP1
|
[NCBI]
|
0.000113945
|
|
|
PSIP1
|
[NCBI]
|
0.000113945
|
|
|
COL18A1
|
[NCBI]
|
0.000110963
|
|
|
BEST1
|
[NCBI]
|
0.000103504
|
|
|
STL1
|
[NCBI]
|
0.000100918
|
|
|
TEAD1
|
[NCBI]
|
9.9559e-05
|
|
|
C1ORF36
|
[NCBI]
|
9.9559e-05
|
|
|
RDH12
|
[NCBI]
|
9.9559e-05
|
|
|
fundus albipunctatus
|
[NCBI]
|
9.94126e-05
|
|
|
TNF
|
[NCBI]
|
9.6054e-05
|
|
|
RP11
|
[NCBI]
|
9.60467e-05
|
|
|
GUCY2D
|
[NCBI]
|
9.5842e-05
|
|
|
VMD
|
[NCBI]
|
9.40722e-05
|
|
|
UNC119
|
[NCBI]
|
9.10053e-05
|
|
|
PITPN
|
[NCBI]
|
9.10053e-05
|
|
|
ARRB2
|
[NCBI]
|
9.10053e-05
|
|
|
macular dystrophy, fenestrated sheen type
|
[NCBI]
|
8.99909e-05
|
|
|
light fixation seizure syndrome
|
[NCBI]
|
8.99909e-05
|
|
|
retinal degeneration and epilepsy
|
[NCBI]
|
8.99909e-05
|
|
|
cone dystrophy, x-linked, with tapetal-like sheen
|
[NCBI]
|
8.99909e-05
|
|
|
RCD4
|
[NCBI]
|
8.99909e-05
|
|
|
LCA12
|
[NCBI]
|
8.99909e-05
|
|
|
retinoschisis, autosomal dominant
|
[NCBI]
|
8.99909e-05
|
|
|
retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
|
[NCBI]
|
8.99909e-05
|
|
|
RP36
|
[NCBI]
|
8.99909e-05
|
|
|
homozygous 11p15-p14 deletion syndrome
|
[NCBI]
|
8.99909e-05
|
|
|
amaurosis congenita, cone-rod type, with congenital hypertrichosis
|
[NCBI]
|
8.99909e-05
|
|
|
CP
|
[NCBI]
|
8.64e-05
|
|
|
ACHM2
|
[NCBI]
|
8.31849e-05
|
|
|
VEGF
|
[NCBI]
|
8.20978e-05
|
|
|
PEDF
|
[NCBI]
|
8.07225e-05
|
|
|
NPHP4
|
[NCBI]
|
8.06535e-05
|
|
|
KFSD
|
[NCBI]
|
7.74548e-05
|
|
|
EGF
|
[NCBI]
|
7.74019e-05
|
|
|
GDNF
|
[NCBI]
|
7.71192e-05
|
|
|
MYO7A
|
[NCBI]
|
7.68588e-05
|
|
|
ND
|
[NCBI]
|
7.4866e-05
|
|
|
TUB
|
[NCBI]
|
7.3949e-05
|
|
|
NBIA1
|
[NCBI]
|
7.11945e-05
|
|
|
deafness, conductive, with stapes fixation
|
[NCBI]
|
7.11945e-05
|
|
|
USH2A
|
[NCBI]
|
6.98151e-05
|
|
|
KSS
|
[NCBI]
|
6.92706e-05
|
|
|
retinopathy, pericentral pigmentary, dominant
|
[NCBI]
|
6.75812e-05
|
|
|
JBTS4
|
[NCBI]
|
6.75812e-05
|
|
|
encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration
|
[NCBI]
|
6.75812e-05
|
|
|
EVR1
|
[NCBI]
|
6.72358e-05
|
|
|
CEP290
|
[NCBI]
|
6.68997e-05
|
|
|
CLCN7
|
[NCBI]
|
6.50246e-05
|
|
|
RPGR
|
[NCBI]
|
6.28754e-05
|
|
|
MCOLN1
|
[NCBI]
|
6.02962e-05
|
|
|
C1QTNF5
|
[NCBI]
|
5.92445e-05
|
|
|
RORB
|
[NCBI]
|
5.92445e-05
|
|
|
IMPG1
|
[NCBI]
|
5.92445e-05
|
|
|
ANPEP
|
[NCBI]
|
5.92445e-05
|
|
|
GUCA1B
|
[NCBI]
|
5.92445e-05
|
|
|
PDE6H
|
[NCBI]
|
5.92445e-05
|
|
|
CRY2
|
[NCBI]
|
5.92445e-05
|
|
|
PPEF2
|
[NCBI]
|
5.92445e-05
|
|
|
SCML1
|
[NCBI]
|
5.92445e-05
|
|
|
DGKI
|
[NCBI]
|
5.92445e-05
|
|
|
MED12L
|
[NCBI]
|
5.92445e-05
|
|
|
CRY1
|
[NCBI]
|
5.92445e-05
|
|
|
P2RY14
|
[NCBI]
|
5.92445e-05
|
|
|
CSPG3
|
[NCBI]
|
5.92445e-05
|
|
|
fundus dystrophy, pseudoinflammatory, recessive form
|
[NCBI]
|
5.9162e-05
|
|
|
CSNBAD2
|
[NCBI]
|
5.9162e-05
|
|
|
OPTB4
|
[NCBI]
|
5.9162e-05
|
|
|
retinohepatoendocrinologic syndrome
|
[NCBI]
|
5.9162e-05
|
|
|
macular dystrophy, concentric annular
|
[NCBI]
|
5.9162e-05
|
|
|
LCA10
|
[NCBI]
|
5.9162e-05
|
|
|
hypomagnesemia, renal, with ocular involvement
|
[NCBI]
|
5.9162e-05
|
|
|
RLBP1
|
[NCBI]
|
5.53954e-05
|
|
|
DFNB59
|
[NCBI]
|
5.37166e-05
|
|
|
leber congenital amaurosis, type iii
|
[NCBI]
|
5.37166e-05
|
|
|
USH1F
|
[NCBI]
|
5.37166e-05
|
|
|
COL2A1
|
[NCBI]
|
5.36897e-05
|
|
|
CHM
|
[NCBI]
|
5.0646e-05
|
|
|
RP15
|
[NCBI]
|
4.96836e-05
|
|
|
RP7
|
[NCBI]
|
4.96836e-05
|
|
|
CDG1A
|
[NCBI]
|
4.75249e-05
|
|
|
RP14
|
[NCBI]
|
4.64825e-05
|
|
|
dystonia, familial, with visual failure and striatal lucencies
|
[NCBI]
|
4.64825e-05
|
|
|
STL3
|
[NCBI]
|
4.64825e-05
|
|
|
LCA2
|
[NCBI]
|
4.64825e-05
|
|
|
chorioretinal dysplasia-microcephaly-mental retardation syndrome
|
[NCBI]
|
4.64825e-05
|
|
|
DFNB18
|
[NCBI]
|
4.64825e-05
|
|
|
USH2C
|
[NCBI]
|
4.64825e-05
|
|
|
rod-derived cone viability factor
|
[NCBI]
|
4.54894e-05
|
|
|
CSPG2
|
[NCBI]
|
4.54894e-05
|
|
|
PITPNM1
|
[NCBI]
|
4.54894e-05
|
|
|
BEST2
|
[NCBI]
|
4.54894e-05
|
|
|
IMPG2
|
[NCBI]
|
4.54894e-05
|
|
|
DGKG
|
[NCBI]
|
4.54894e-05
|
|
|
BEST4
|
[NCBI]
|
4.54894e-05
|
|
|
BEST3
|
[NCBI]
|
4.54894e-05
|
|
|
cytochrome p450, family 4, subfamily v, polypeptide 2
|
[NCBI]
|
4.54894e-05
|
|
|
DYNLT1
|
[NCBI]
|
4.54894e-05
|
|
|
CSA
|
[NCBI]
|
4.51807e-05
|
|
|
OPTB5
|
[NCBI]
|
4.38311e-05
|
|
|
PPCRA
|
[NCBI]
|
4.38311e-05
|
|
|
JBTS3
|
[NCBI]
|
4.15703e-05
|
|
|
MJD
|
[NCBI]
|
4.10402e-05
|
|
|
SLC4A7
|
[NCBI]
|
4.03136e-05
|
|
|
CASP12
|
[NCBI]
|
4.03136e-05
|
|
|
PDE6A
|
[NCBI]
|
4.03136e-05
|
|
|
GNAT1
|
[NCBI]
|
4.03136e-05
|
|
|
LMO7
|
[NCBI]
|
4.03136e-05
|
|
|
UCHL3
|
[NCBI]
|
4.03136e-05
|
|
|
RP12
|
[NCBI]
|
3.96016e-05
|
|
|
ARMD1
|
[NCBI]
|
3.9202e-05
|
|
|
CLS
|
[NCBI]
|
3.9202e-05
|
|
|
RP2
|
[NCBI]
|
3.7047e-05
|
|
|
SEMA4A
|
[NCBI]
|
3.69615e-05
|
|
|
CNGB1
|
[NCBI]
|
3.69615e-05
|
|
|
NHLH2
|
[NCBI]
|
3.69615e-05
|
|
|
pejvakin
|
[NCBI]
|
3.69615e-05
|
|
|
USH1D
|
[NCBI]
|
3.62989e-05
|
|
|
ROM1
|
[NCBI]
|
3.44754e-05
|
|
|
RCV1
|
[NCBI]
|
3.44754e-05
|
|
|
CLCN3
|
[NCBI]
|
3.44754e-05
|
|
|
EFEMP1
|
[NCBI]
|
3.44754e-05
|
|
|
PDC
|
[NCBI]
|
3.44754e-05
|
|
|
GJD2
|
[NCBI]
|
3.44754e-05
|
|
|
USH3
|
[NCBI]
|
3.35966e-05
|
|
|
BSG
|
[NCBI]
|
3.34672e-05
|
|
|
TRPC6
|
[NCBI]
|
3.24994e-05
|
|
|
OSTM1
|
[NCBI]
|
3.24994e-05
|
|
|
phosphoglycerate kinase 1 deficiency
|
[NCBI]
|
3.24114e-05
|
|
|
OPTA2
|
[NCBI]
|
3.24114e-05
|
|
|
kniest dysplasia
|
[NCBI]
|
3.13155e-05
|
|
|
MPO
|
[NCBI]
|
3.09551e-05
|
|
|
PROM1
|
[NCBI]
|
3.08605e-05
|
|
|
FSCN2
|
[NCBI]
|
3.08605e-05
|
|
|
SAG
|
[NCBI]
|
3.08605e-05
|
|
|
USH3A
|
[NCBI]
|
3.08605e-05
|
|
|
marshall syndrome
|
[NCBI]
|
3.0297e-05
|
|
|
CJD
|
[NCBI]
|
3.01378e-05
|
|
|
RDH5
|
[NCBI]
|
2.94612e-05
|
|
|
BMP7
|
[NCBI]
|
2.94612e-05
|
|
|
AHI1
|
[NCBI]
|
2.94612e-05
|
|
|
JMJD6
|
[NCBI]
|
2.94612e-05
|
|
|
pseudoxanthoma elasticum, forme fruste
|
[NCBI]
|
2.93461e-05
|
|
|
hurler-scheie syndrome
|
[NCBI]
|
2.93461e-05
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
2.8455e-05
|
|
|
BBS4
|
[NCBI]
|
2.8241e-05
|
|
|
CASP3
|
[NCBI]
|
2.8241e-05
|
|
|
CNGB3
|
[NCBI]
|
2.8241e-05
|
|
|
NPHP1
|
[NCBI]
|
2.8241e-05
|
|
|
TRMA
|
[NCBI]
|
2.76169e-05
|
|
|
RBP3
|
[NCBI]
|
2.71598e-05
|
|
|
RPGRIP1
|
[NCBI]
|
2.71598e-05
|
|
|
RP1
|
[NCBI]
|
2.71598e-05
|
|
|
DCTN1
|
[NCBI]
|
2.71598e-05
|
|
|
SLOS
|
[NCBI]
|
2.63816e-05
|
|
|
SLC6A6
|
[NCBI]
|
2.61898e-05
|
|
|
HEPH
|
[NCBI]
|
2.53105e-05
|
|
|
PXE
|
[NCBI]
|
2.49921e-05
|
|
|
methylmalonic aciduria and homocystinuria, cblc type
|
[NCBI]
|
2.4695e-05
|
|
|
APOE
|
[NCBI]
|
2.43734e-05
|
|
|
PCDH15
|
[NCBI]
|
2.3082e-05
|
|
|
TIMP1
|
[NCBI]
|
2.3082e-05
|
|
|
ZS
|
[NCBI]
|
2.25486e-05
|
|
|
OTOF
|
[NCBI]
|
2.24444e-05
|
|
|
GRB2
|
[NCBI]
|
2.24444e-05
|
|
|
NPHP1
|
[NCBI]
|
2.07443e-05
|
|
|
RP1
|
[NCBI]
|
2.02668e-05
|
|
|
FHM1
|
[NCBI]
|
1.98068e-05
|
|
|
IP
|
[NCBI]
|
1.92881e-05
|
|
|
PANK2
|
[NCBI]
|
1.89185e-05
|
|
|
ADCYAP1
|
[NCBI]
|
1.86908e-05
|
|
|
TIMP3
|
[NCBI]
|
1.85118e-05
|
|
|
CMTX1
|
[NCBI]
|
1.81207e-05
|
|
|
usher syndrome, type i
|
[NCBI]
|
1.81207e-05
|
|
|
CBD
|
[NCBI]
|
1.7751e-05
|
|
|
ATXN8OS
|
[NCBI]
|
1.7751e-05
|
|
|
SEDC
|
[NCBI]
|
1.77334e-05
|
|
|
MEB
|
[NCBI]
|
1.73582e-05
|
|
|
MBP
|
[NCBI]
|
1.68358e-05
|
|
|
SPG3A
|
[NCBI]
|
1.66418e-05
|
|
|
walker-warburg syndrome
|
[NCBI]
|
1.62995e-05
|
|
|
NDP
|
[NCBI]
|
1.47183e-05
|
|
|
SCA6
|
[NCBI]
|
1.44379e-05
|
|
|
PGK1
|
[NCBI]
|
1.42248e-05
|
|
|
MTATP6
|
[NCBI]
|
1.37596e-05
|
|
|
RBP1
|
[NCBI]
|
1.33199e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
1.28484e-05
|
|
|
CHAT
|
[NCBI]
|
1.22118e-05
|
|
|
BCL2
|
[NCBI]
|
1.17727e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
1.12604e-05
|
|
|
PWS
|
[NCBI]
|
1.10611e-05
|
|
|
ABL
|
[NCBI]
|
1.10533e-05
|
|
|
CAT
|
[NCBI]
|
8.82344e-06
|
|
|
SNCA
|
[NCBI]
|
8.68172e-06
|
|
|
EPO
|
[NCBI]
|
8.49091e-06
|
|
|
NGFR
|
[NCBI]
|
8.1381e-06
|
|
|
SCA2
|
[NCBI]
|
7.96527e-06
|
|
|
gaucher disease, type i
|
[NCBI]
|
7.96527e-06
|
|
|
MYOC
|
[NCBI]
|
6.42052e-06
|
|
|
G6PD
|
[NCBI]
|
6.35433e-06
|
|
|
HGF
|
[NCBI]
|
5.89524e-06
|
|
|
homocystinuria
|
[NCBI]
|
5.5519e-06
|
|
|
SCA1
|
[NCBI]
|
5.44592e-06
|
|
|
BCHE
|
[NCBI]
|
5.22832e-06
|
|
|
TF
|
[NCBI]
|
4.10481e-06
|
|
|
PDCD8
|
[NCBI]
|
3.60478e-06
|
|
|
SDC2
|
[NCBI]
|
3.35166e-06
|
|
|
ALD
|
[NCBI]
|
2.47706e-06
|
|
|
leber optic atrophy
|
[NCBI]
|
7.71891e-07
|
|
|
PCNA
|
[NCBI]
|
5.13676e-07
|
|
|
HD
|
[NCBI]
|
2.64321e-07
|
|
|
ACHE
|
[NCBI]
|
1.65588e-07
|
|
|
TH
|
[NCBI]
|
1.50662e-07
|
|
|
MFS
|
[NCBI]
|
3.40282e-09
|
|
|
NGFB
|
[NCBI]
|
3.29e-09
|
|