|
OMIM |
Link |
Information gain |
01 |
|
spondyloenchondrodysplasia
|
[NCBI]
|
0.00753061
|
|
|
MADD
|
[NCBI]
|
0.00262929
|
|
|
glutaric acidemia i
|
[NCBI]
|
0.00226877
|
|
|
saccharopinuria
|
[NCBI]
|
0.00169869
|
|
|
l-2-hydroxyglutaric aciduria
|
[NCBI]
|
0.00150182
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
0.0014878
|
|
|
d-2-@hydroxyglutaric aciduria
|
[NCBI]
|
0.00142548
|
|
|
GCDH
|
[NCBI]
|
0.000886777
|
|
|
BTHS
|
[NCBI]
|
0.00075458
|
|
|
3-@methylglutaconic aciduria, type iii
|
[NCBI]
|
0.000686064
|
|
|
formiminotransferase deficiency
|
[NCBI]
|
0.000301194
|
|
|
glutaryl-coa oxidase deficiency
|
[NCBI]
|
0.000298294
|
|
|
ETFDH
|
[NCBI]
|
0.00020389
|
|
|
AUH
|
[NCBI]
|
0.000197976
|
|
|
L2HGDH
|
[NCBI]
|
0.000167466
|
|
|
ETFB
|
[NCBI]
|
0.000167466
|
|
|
ETFA
|
[NCBI]
|
0.000167466
|
|
|
3-@hydroxy-3-methylglutaryl-coa lyase deficiency
|
[NCBI]
|
0.000159345
|
|
|
TAZ
|
[NCBI]
|
0.00013121
|
|
|
d-2-@hydroxyglutarate dehydrogenase
|
[NCBI]
|
0.000123464
|
|
|
hypercholesterolemia, autosomal dominant, type b
|
[NCBI]
|
0.000117463
|
|
|
3-@methylglutaconic aciduria, type iv
|
[NCBI]
|
0.000117463
|
|
|
hyperpipecolatemia
|
[NCBI]
|
8.05641e-05
|
|
|
hypercholesterolemia, autosomal dominant
|
[NCBI]
|
7.72135e-05
|
|
|
ADHFE1
|
[NCBI]
|
7.54021e-05
|
|
|
sudden infant death syndrome
|
[NCBI]
|
7.09448e-05
|
|
|
pearson marrow-pancreas syndrome
|
[NCBI]
|
6.73545e-05
|
|
|
hyperlipoproteinemia, type ii
|
[NCBI]
|
6.28782e-05
|
|
|
CVS
|
[NCBI]
|
5.91688e-05
|
|
|
SLC22A6
|
[NCBI]
|
5.02194e-05
|
|
|
IVA
|
[NCBI]
|
4.86322e-05
|
|
|
OPA3
|
[NCBI]
|
3.76557e-05
|
|
|
SLC22A2
|
[NCBI]
|
2.71454e-05
|
|
|
ZS
|
[NCBI]
|
2.50494e-05
|
|
|
SLC22A8
|
[NCBI]
|
2.38396e-05
|
|
|
LDLR
|
[NCBI]
|
8.82845e-06
|
|
|
VEGF
|
[NCBI]
|
2.66155e-06
|
|
|
BDNF
|
[NCBI]
|
3.21361e-07
|
|