|
OMIM |
Link |
Information gain |
01 |
|
peho syndrome
|
[NCBI]
|
0.00538236
|
|
|
gapo syndrome
|
[NCBI]
|
0.0051267
|
|
|
OPA2
|
[NCBI]
|
0.001612
|
|
|
OPA4
|
[NCBI]
|
0.00138384
|
|
|
WFS1
|
[NCBI]
|
0.00120823
|
|
|
OPA6
|
[NCBI]
|
0.000952205
|
|
|
leber optic atrophy
|
[NCBI]
|
0.000835855
|
|
|
SCAR5
|
[NCBI]
|
0.000734606
|
|
|
opticocochleodentate degeneration
|
[NCBI]
|
0.000734606
|
|
|
behr syndrome
|
[NCBI]
|
0.000652698
|
|
|
SCAR3
|
[NCBI]
|
0.000652698
|
|
|
OPA1
|
[NCBI]
|
0.000598843
|
|
|
glaucoma-related pigment dispersion syndrome
|
[NCBI]
|
0.000369488
|
|
|
optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive
|
[NCBI]
|
0.000332508
|
|
|
JBTS1
|
[NCBI]
|
0.000289122
|
|
|
hereditary motor and sensory neuropathy vi
|
[NCBI]
|
0.000277993
|
|
|
optic atrophy 1 and deafness
|
[NCBI]
|
0.000255084
|
|
|
OPA1
|
[NCBI]
|
0.000249874
|
|
|
opticoacoustic nerve atrophy with dementia
|
[NCBI]
|
0.000221502
|
|
|
tritanopia
|
[NCBI]
|
0.000216883
|
|
|
RAB3GAP1
|
[NCBI]
|
0.000156795
|
|
|
3-@methylglutaconic aciduria, type iii
|
[NCBI]
|
0.000153701
|
|
|
WARBM
|
[NCBI]
|
0.00014868
|
|
|
SLE
|
[NCBI]
|
0.00014353
|
|
|
optic atrophy--spastic paraplegia syndrome
|
[NCBI]
|
0.000110667
|
|
|
mesangial sclerosis, diffuse renal, with ocular abnormalities
|
[NCBI]
|
0.000110667
|
|
|
necrotizing encephalomyelopathy, subacute, of leigh, adult
|
[NCBI]
|
0.000110667
|
|
|
spastic paraplegia, optic atrophy, and dementia
|
[NCBI]
|
0.000110667
|
|
|
spastic paraplegia, optic atrophy, microcephaly, and xy sex reversal
|
[NCBI]
|
0.000110667
|
|
|
optic atrophy with demyelinating disease of cns
|
[NCBI]
|
0.000110667
|
|
|
cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
|
[NCBI]
|
0.000110667
|
|
|
OPTB1
|
[NCBI]
|
0.000105156
|
|
|
laryngeal abductor paralysis
|
[NCBI]
|
8.82116e-05
|
|
|
osteopetrosis and infantile neuroaxonal dystrophy
|
[NCBI]
|
7.97469e-05
|
|
|
CMTX5
|
[NCBI]
|
7.42561e-05
|
|
|
spastic ataxia
|
[NCBI]
|
7.42561e-05
|
|
|
ATCAY
|
[NCBI]
|
7.42561e-05
|
|
|
OPTB2
|
[NCBI]
|
7.01776e-05
|
|
|
TST
|
[NCBI]
|
6.86721e-05
|
|
|
congenital disorder of glycosylation, type i/iix
|
[NCBI]
|
6.42341e-05
|
|
|
TTDN1
|
[NCBI]
|
6.42341e-05
|
|
|
MTTH
|
[NCBI]
|
6.07852e-05
|
|
|
TTDN1
|
[NCBI]
|
6.07852e-05
|
|
|
SDHC
|
[NCBI]
|
5.76986e-05
|
|
|
SCAR1
|
[NCBI]
|
5.65201e-05
|
|
|
spinocerebellar ataxia, 16q22-linked
|
[NCBI]
|
5.65201e-05
|
|
|
TIMM8A
|
[NCBI]
|
5.43545e-05
|
|
|
sialuria
|
[NCBI]
|
5.37269e-05
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
5.37269e-05
|
|
|
CACNA1F
|
[NCBI]
|
5.26231e-05
|
|
|
HLA-DQA1
|
[NCBI]
|
5.18591e-05
|
|
|
ALD
|
[NCBI]
|
5.0301e-05
|
|
|
MTS
|
[NCBI]
|
5.02908e-05
|
|
|
pitt syndrome
|
[NCBI]
|
5.02908e-05
|
|
|
MFN2
|
[NCBI]
|
4.87331e-05
|
|
|
MTND5
|
[NCBI]
|
4.77153e-05
|
|
|
MTND6
|
[NCBI]
|
4.72432e-05
|
|
|
NBIA1
|
[NCBI]
|
4.43705e-05
|
|
|
EAOH
|
[NCBI]
|
4.43705e-05
|
|
|
AEZ
|
[NCBI]
|
4.23937e-05
|
|
|
hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant
|
[NCBI]
|
4.17876e-05
|
|
|
ALMS
|
[NCBI]
|
4.17876e-05
|
|
|
MTATP6
|
[NCBI]
|
4.1222e-05
|
|
|
LCA1
|
[NCBI]
|
3.95784e-05
|
|
|
MSS
|
[NCBI]
|
3.90729e-05
|
|
|
mucolipidosis iv
|
[NCBI]
|
3.90729e-05
|
|
|
RCDP1
|
[NCBI]
|
3.6772e-05
|
|
|
apert syndrome
|
[NCBI]
|
3.6772e-05
|
|
|
CADASIL
|
[NCBI]
|
3.63514e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
3.40503e-05
|
|
|
RHO
|
[NCBI]
|
3.23233e-05
|
|
|
SCA7
|
[NCBI]
|
3.0039e-05
|
|
|
ABL
|
[NCBI]
|
2.90001e-05
|
|
|
RSTS
|
[NCBI]
|
2.87519e-05
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
2.56722e-05
|
|
|
SCA2
|
[NCBI]
|
2.50931e-05
|
|
|
LS
|
[NCBI]
|
2.26779e-05
|
|
|
SCA1
|
[NCBI]
|
2.1618e-05
|
|
|
FRDA
|
[NCBI]
|
1.93588e-05
|
|
|
ZS
|
[NCBI]
|
1.89992e-05
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
1.37449e-05
|
|
|
RP
|
[NCBI]
|
1.19007e-05
|
|
|
G6PD
|
[NCBI]
|
1.04897e-05
|
|
|
MJD
|
[NCBI]
|
8.8386e-06
|
|