|
OMIM |
Link |
Information gain |
01 |
|
cystinuria
|
[NCBI]
|
0.00469927
|
|
|
SLC3A1
|
[NCBI]
|
0.00198661
|
|
|
dibasicaminoaciduria i
|
[NCBI]
|
0.00115589
|
|
|
SLC7A9
|
[NCBI]
|
0.000990582
|
|
|
ATD1
|
[NCBI]
|
0.000655992
|
|
|
hypotonia-cystinuria syndrome
|
[NCBI]
|
0.000366478
|
|
|
PREPL
|
[NCBI]
|
0.000251572
|
|
|
PPM1B
|
[NCBI]
|
0.000167398
|
|
|
LPI
|
[NCBI]
|
0.000161607
|
|
|
citrulline transport defect
|
[NCBI]
|
0.00012182
|
|
|
RA
|
[NCBI]
|
8.42602e-05
|
|
|
C2ORF34
|
[NCBI]
|
8.35435e-05
|
|
|
MTIF2
|
[NCBI]
|
8.35435e-05
|
|
|
SFRS7
|
[NCBI]
|
8.35435e-05
|
|
|
ATP6V0E1
|
[NCBI]
|
6.9765e-05
|
|
|
MDH1
|
[NCBI]
|
6.9765e-05
|
|
|
glutathionuria
|
[NCBI]
|
6.9765e-05
|
|
|
USH1C
|
[NCBI]
|
6.47746e-05
|
|
|
cystathioninuria
|
[NCBI]
|
6.47746e-05
|
|
|
muckle-wells syndrome
|
[NCBI]
|
6.13123e-05
|
|
|
argininemia
|
[NCBI]
|
5.53307e-05
|
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
5.53307e-05
|
|
|
DGUOK
|
[NCBI]
|
5.23523e-05
|
|
|
SLC3A2
|
[NCBI]
|
5.12477e-05
|
|
|
ABCC8
|
[NCBI]
|
3.27905e-05
|
|
|
APS1
|
[NCBI]
|
3.13001e-05
|
|
|
AIRE
|
[NCBI]
|
2.97988e-05
|
|
|
homocystinuria
|
[NCBI]
|
2.73399e-05
|
|
|
CD
|
[NCBI]
|
5.9763e-06
|
|