|
OMIM |
Link |
Information gain |
01 |
|
menkes disease
|
[NCBI]
|
0.00285801
|
|
|
pelizaeus-merzbacher-like disease, autosomal recessive, 2
|
[NCBI]
|
0.00114043
|
|
|
LS
|
[NCBI]
|
0.000559532
|
|
|
glutaric acidemia i
|
[NCBI]
|
0.000209815
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
0.000184543
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
0.00017699
|
|
|
MT1A
|
[NCBI]
|
0.000128034
|
|
|
hair defect with photosensitivity and mental retardation
|
[NCBI]
|
0.000114432
|
|
|
SLE
|
[NCBI]
|
0.000105718
|
|
|
MTATP6
|
[NCBI]
|
9.88793e-05
|
|
|
glutamyl ribose-5-phosphate storage disease
|
[NCBI]
|
9.19729e-05
|
|
|
malonyl-coa decarboxylase deficiency
|
[NCBI]
|
8.35046e-05
|
|
|
osteopetrosis and infantile neuroaxonal dystrophy
|
[NCBI]
|
8.35046e-05
|
|
|
LBSL
|
[NCBI]
|
7.80101e-05
|
|
|
fumarase deficiency
|
[NCBI]
|
7.06778e-05
|
|
|
GATM
|
[NCBI]
|
6.96426e-05
|
|
|
MT2A
|
[NCBI]
|
6.6266e-05
|
|
|
APBD
|
[NCBI]
|
6.56673e-05
|
|
|
LSFC
|
[NCBI]
|
6.56673e-05
|
|
|
d-2-@hydroxyglutaric aciduria
|
[NCBI]
|
6.02486e-05
|
|
|
gaucher disease, perinatal lethal
|
[NCBI]
|
6.02486e-05
|
|
|
MLYCD
|
[NCBI]
|
6.00921e-05
|
|
|
GSS
|
[NCBI]
|
5.86684e-05
|
|
|
SDHC
|
[NCBI]
|
5.86684e-05
|
|
|
SNDI
|
[NCBI]
|
5.74481e-05
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
5.74481e-05
|
|
|
succinic semialdehyde dehydrogenase deficiency
|
[NCBI]
|
5.30011e-05
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
5.30011e-05
|
|
|
DLD
|
[NCBI]
|
5.21187e-05
|
|
|
OPTB3
|
[NCBI]
|
4.95369e-05
|
|
|
propionic acidemia
|
[NCBI]
|
4.95369e-05
|
|
|
3-@hydroxy-3-methylglutaryl-coa lyase deficiency
|
[NCBI]
|
4.86833e-05
|
|
|
PANK2
|
[NCBI]
|
4.77604e-05
|
|
|
cutis laxa, x-linked
|
[NCBI]
|
4.67023e-05
|
|
|
VWM
|
[NCBI]
|
4.60675e-05
|
|
|
MELAS
|
[NCBI]
|
4.54578e-05
|
|
|
dyschromatosis symmetrica hereditaria 1
|
[NCBI]
|
4.48711e-05
|
|
|
MTTK
|
[NCBI]
|
4.41175e-05
|
|
|
CDSP
|
[NCBI]
|
4.17546e-05
|
|
|
MTTL1
|
[NCBI]
|
3.51633e-05
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
3.47346e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
3.28026e-05
|
|
|
wilson disease
|
[NCBI]
|
2.34744e-05
|
|
|
GFAP
|
[NCBI]
|
2.16151e-05
|
|
|
PMD
|
[NCBI]
|
2.08362e-05
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
1.90432e-05
|
|
|
KSS
|
[NCBI]
|
1.88347e-05
|
|
|
APOB
|
[NCBI]
|
1.64332e-05
|
|
|
TH
|
[NCBI]
|
9.22896e-06
|
|
|
ACHE
|
[NCBI]
|
9.19037e-06
|
|
|
MBP
|
[NCBI]
|
7.53087e-06
|
|
|
APOE
|
[NCBI]
|
5.92361e-06
|
|
|
AD
|
[NCBI]
|
5.62264e-06
|
|
|
PTH
|
[NCBI]
|
1.68736e-06
|
|
|
CJD
|
[NCBI]
|
1.63558e-08
|
|