|
OMIM |
Link |
Information
gain |
01 |
|
|
OFD3
|
[NCBI]
|
0.000991404
|
|
|
|
ehlers-danlos syndrome, type vib
|
[NCBI]
|
0.000765046
|
|
|
|
behcet syndrome
|
[NCBI]
|
0.000522538
|
|
|
|
nephrosialidosis
|
[NCBI]
|
0.000180456
|
|
|
|
wilson disease
|
[NCBI]
|
0.000150262
|
|
|
|
dysautonomia-like disorder
|
[NCBI]
|
0.00012396
|
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
0.000120373
|
|
|
|
PXE
|
[NCBI]
|
0.000115355
|
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
0.000106843
|
|
|
|
ulna metaphyseal dysplasia syndrome
|
[NCBI]
|
0.000101495
|
|
|
|
spastic ataxia
|
[NCBI]
|
8.75202e-05
|
|
|
|
angioid streaks
|
[NCBI]
|
8.34319e-05
|
|
|
|
OPMD
|
[NCBI]
|
8.07941e-05
|
|
|
|
cystinosis, adult nonnephropathic
|
[NCBI]
|
8.01754e-05
|
|
|
|
amyloidosis vii
|
[NCBI]
|
6.97152e-05
|
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
6.95008e-05
|
|
|
|
CHS
|
[NCBI]
|
6.80686e-05
|
|
|
|
chondrodysplasia punctata, autosomal dominant
|
[NCBI]
|
6.34367e-05
|
|
|
|
hyperlipoproteinemia, type i
|
[NCBI]
|
6.14841e-05
|
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
5.89416e-05
|
|
|
|
ehlers-danlos syndrome, type vi
|
[NCBI]
|
5.60822e-05
|
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
5.20614e-05
|
|
|
|
usher syndrome, type i
|
[NCBI]
|
5.01539e-05
|
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
4.97112e-05
|
|
|
|
RCDP1
|
[NCBI]
|
4.97112e-05
|
|
|
|
SJS1
|
[NCBI]
|
4.62071e-05
|
|
|
|
HSAN3
|
[NCBI]
|
4.55251e-05
|
|
|
|
CMT1B
|
[NCBI]
|
4.27812e-05
|
|
|
|
sickle cell anemia
|
[NCBI]
|
4.27812e-05
|
|
|
|
ABL
|
[NCBI]
|
4.17029e-05
|
|
|
|
TS
|
[NCBI]
|
3.89473e-05
|
|
|
|
gaucher disease, type i
|
[NCBI]
|
3.76186e-05
|
|
|
|
NS1
|
[NCBI]
|
3.42504e-05
|
|
|
|
NF1
|
[NCBI]
|
3.22343e-05
|
|
|
|
fabry disease
|
[NCBI]
|
3.12492e-05
|
|
|
|
TTR
|
[NCBI]
|
2.65885e-05
|
|
|
|
HBB
|
[NCBI]
|
2.61158e-05
|
|
|
|
SLE
|
[NCBI]
|
2.27094e-05
|
|
|
|
SLOS
|
[NCBI]
|
2.19646e-05
|
|
|
|
MFS
|
[NCBI]
|
2.007e-05
|
|
