|
OMIM |
Link |
Information
gain |
01 |
|
|
EKD1
|
[NCBI]
|
0.0274732
|
|
|
|
PNKD1
|
[NCBI]
|
0.00228155
|
|
|
|
EKD2
|
[NCBI]
|
0.00191782
|
|
|
|
oculorenocerebellar syndrome
|
[NCBI]
|
0.000852633
|
|
|
|
pallidopyramidal syndrome
|
[NCBI]
|
0.00063536
|
|
|
|
CSE
|
[NCBI]
|
0.000553779
|
|
|
|
HPRT1
|
[NCBI]
|
0.000535019
|
|
|
|
ICCA
|
[NCBI]
|
0.000501042
|
|
|
|
cutis laxa, corneal clouding, and mental retardation
|
[NCBI]
|
0.000431032
|
|
|
|
LNS
|
[NCBI]
|
0.000407061
|
|
|
|
myofibrillogenesis regulator 1
|
[NCBI]
|
0.000231417
|
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
0.00015293
|
|
|
|
glutaric acidemia i
|
[NCBI]
|
0.000139816
|
|
|
|
DRPLA
|
[NCBI]
|
0.000127076
|
|
|
|
choreoathetosis, familial inverted
|
[NCBI]
|
0.000121489
|
|
|
|
hhhh syndrome
|
[NCBI]
|
0.000121489
|
|
|
|
CHAC
|
[NCBI]
|
0.000117488
|
|
|
|
dextrocardia with unusual facies and microphthalmia
|
[NCBI]
|
9.90249e-05
|
|
|
|
MRXS10
|
[NCBI]
|
9.90249e-05
|
|
|
|
striatonigral degeneration, infantile, mitochondrial
|
[NCBI]
|
9.90249e-05
|
|
|
|
syringomas, multiple
|
[NCBI]
|
9.05517e-05
|
|
|
|
chorea, benign familial
|
[NCBI]
|
9.05517e-05
|
|
|
|
SLC5A11
|
[NCBI]
|
9.02832e-05
|
|
|
|
dystonia, familial, with visual failure and striatal lucencies
|
[NCBI]
|
7.77101e-05
|
|
|
|
hydroxyacyl-coa dehydrogenase ii deficiency
|
[NCBI]
|
7.50046e-05
|
|
|
|
gout, hprt-related
|
[NCBI]
|
7.26898e-05
|
|
|
|
porencephaly, familial
|
[NCBI]
|
7.06671e-05
|
|
|
|
de sanctis-cacchione syndrome
|
[NCBI]
|
6.72563e-05
|
|
|
|
SNDI
|
[NCBI]
|
6.4446e-05
|
|
|
|
AUH
|
[NCBI]
|
6.17519e-05
|
|
|
|
GVM
|
[NCBI]
|
6.09842e-05
|
|
|
|
EA1
|
[NCBI]
|
6.09842e-05
|
|
|
|
HSD17B10
|
[NCBI]
|
5.90833e-05
|
|
|
|
argininemia
|
[NCBI]
|
5.50039e-05
|
|
|
|
EA2
|
[NCBI]
|
5.36411e-05
|
|
|
|
DRPLA
|
[NCBI]
|
5.03403e-05
|
|
|
|
SCA7
|
[NCBI]
|
4.03809e-05
|
|
|
|
TSD
|
[NCBI]
|
2.17248e-05
|
|
|
|
HD
|
[NCBI]
|
1.66067e-05
|
|
