|
OMIM |
Link |
Information gain |
01 |
|
CTS1
|
[NCBI]
|
0.00397125
|
|
|
valinemia
|
[NCBI]
|
0.00192174
|
|
|
hydroxykynureninuria
|
[NCBI]
|
0.00169869
|
|
|
EPD
|
[NCBI]
|
0.000551548
|
|
|
pyridoxamine 5-prime-phosphate oxidase deficiency
|
[NCBI]
|
0.000328663
|
|
|
cystathioninuria
|
[NCBI]
|
0.000241404
|
|
|
hypophosphatasia, infantile
|
[NCBI]
|
0.00020187
|
|
|
anemia, congenital sideroblastic, b6-nonresponsive
|
[NCBI]
|
0.000185453
|
|
|
PDXK
|
[NCBI]
|
0.00014801
|
|
|
DI
|
[NCBI]
|
0.000123881
|
|
|
methylmalonic aciduria, cbla type
|
[NCBI]
|
0.000111431
|
|
|
formiminotransferase deficiency
|
[NCBI]
|
0.000109155
|
|
|
hypophosphatasia, adult type
|
[NCBI]
|
9.88885e-05
|
|
|
homocystinuria
|
[NCBI]
|
9.1355e-05
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
8.49765e-05
|
|
|
ALPL
|
[NCBI]
|
8.45848e-05
|
|
|
glycogen storage disease v
|
[NCBI]
|
8.3542e-05
|
|
|
homocysteinemia
|
[NCBI]
|
8.28578e-05
|
|
|
ALDH7A1
|
[NCBI]
|
7.69626e-05
|
|
|
P2RX4
|
[NCBI]
|
7.37909e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
6.37437e-05
|
|
|
GAD1
|
[NCBI]
|
6.10735e-05
|
|
|
DDC
|
[NCBI]
|
5.95902e-05
|
|
|
GAD2
|
[NCBI]
|
5.70095e-05
|
|
|
ABP1
|
[NCBI]
|
5.18749e-05
|
|
|
HDC
|
[NCBI]
|
4.59831e-05
|
|
|
SCLY
|
[NCBI]
|
4.58513e-05
|
|
|
PNPO
|
[NCBI]
|
3.38093e-05
|
|
|
GOT2
|
[NCBI]
|
2.79171e-05
|
|
|
AKR1A1
|
[NCBI]
|
2.65735e-05
|
|
|
GOT1
|
[NCBI]
|
2.61917e-05
|
|
|
anemia, sideroblastic, x-linked
|
[NCBI]
|
2.11259e-05
|
|
|
ornithine aminotransferase deficiency
|
[NCBI]
|
1.98702e-05
|
|
|
SLC4A1
|
[NCBI]
|
1.73476e-05
|
|
|
GPT
|
[NCBI]
|
1.65203e-05
|
|
|
GFAP
|
[NCBI]
|
1.16502e-05
|
|
|
RA
|
[NCBI]
|
8.80564e-06
|
|
|
MB
|
[NCBI]
|
7.35736e-06
|
|
|
COMT
|
[NCBI]
|
5.50959e-06
|
|
|
NGFB
|
[NCBI]
|
5.07904e-06
|
|
|
TYMS
|
[NCBI]
|
3.92338e-06
|
|
|
ADA
|
[NCBI]
|
3.35247e-06
|
|
|
VDR
|
[NCBI]
|
3.02857e-06
|
|
|
DHFR
|
[NCBI]
|
3.00696e-06
|
|
|
HGF
|
[NCBI]
|
1.0233e-06
|
|
|
EPO
|
[NCBI]
|
3.45879e-07
|
|
|
CRH
|
[NCBI]
|
2.96606e-07
|
|
|
TH
|
[NCBI]
|
1.5682e-07
|
|