|
OMIM |
Link |
Information gain |
01 |
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
0.00294331
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
0.00239371
|
|
|
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to
|
[NCBI]
|
0.00121578
|
|
|
LPI
|
[NCBI]
|
0.00112093
|
|
|
citrullinemia, classic
|
[NCBI]
|
0.000900431
|
|
|
argininemia
|
[NCBI]
|
0.000882358
|
|
|
n-acetylglutamate synthase deficiency
|
[NCBI]
|
0.000817591
|
|
|
HHF6
|
[NCBI]
|
0.000559675
|
|
|
RA
|
[NCBI]
|
0.00051524
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
0.000432491
|
|
|
SLE
|
[NCBI]
|
0.000356844
|
|
|
OTC
|
[NCBI]
|
0.000274213
|
|
|
ASS
|
[NCBI]
|
0.000268639
|
|
|
CTLN2
|
[NCBI]
|
0.000254492
|
|
|
OCRL
|
[NCBI]
|
0.000224335
|
|
|
glycogen storage disease v
|
[NCBI]
|
0.000192091
|
|
|
hyperlysinuria with hyperammonemia
|
[NCBI]
|
0.00013974
|
|
|
PDV
|
[NCBI]
|
0.00013974
|
|
|
NAGS
|
[NCBI]
|
0.000118802
|
|
|
SLC25A15
|
[NCBI]
|
0.00010713
|
|
|
dicarboxylicamino aciduria
|
[NCBI]
|
9.63242e-05
|
|
|
hypomagnesemia, renal, with ocular involvement
|
[NCBI]
|
9.63242e-05
|
|
|
CF
|
[NCBI]
|
9.22315e-05
|
|
|
RHAG
|
[NCBI]
|
8.49768e-05
|
|
|
ASL
|
[NCBI]
|
8.43796e-05
|
|
|
RHBG
|
[NCBI]
|
8.33819e-05
|
|
|
CPS1
|
[NCBI]
|
7.90652e-05
|
|
|
fumarase deficiency
|
[NCBI]
|
7.46161e-05
|
|
|
RTT
|
[NCBI]
|
7.09321e-05
|
|
|
renal tubular acidosis, distal, autosomal dominant
|
[NCBI]
|
6.85923e-05
|
|
|
RHCG
|
[NCBI]
|
6.85393e-05
|
|
|
hyperlysinemia
|
[NCBI]
|
6.38711e-05
|
|
|
polycystic kidneys
|
[NCBI]
|
6.01037e-05
|
|
|
GFAP
|
[NCBI]
|
5.838e-05
|
|
|
GLUL
|
[NCBI]
|
5.26623e-05
|
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
5.02026e-05
|
|
|
GLUD1
|
[NCBI]
|
4.65667e-05
|
|
|
AMPD1
|
[NCBI]
|
4.56776e-05
|
|
|
propionic acidemia
|
[NCBI]
|
4.52471e-05
|
|
|
GCE
|
[NCBI]
|
4.27626e-05
|
|
|
nad synthetase 1
|
[NCBI]
|
4.1667e-05
|
|
|
ACADS
|
[NCBI]
|
3.94246e-05
|
|
|
MADD
|
[NCBI]
|
3.73383e-05
|
|
|
glycogen storage disease vii
|
[NCBI]
|
3.61881e-05
|
|
|
CCT6A
|
[NCBI]
|
3.42458e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
3.31021e-05
|
|
|
PC
|
[NCBI]
|
2.89123e-05
|
|
|
PPAT
|
[NCBI]
|
2.82778e-05
|
|
|
DDC
|
[NCBI]
|
2.70419e-05
|
|
|
SLC25A13
|
[NCBI]
|
2.5542e-05
|
|
|
danubian endemic familial nephropathy
|
[NCBI]
|
2.42753e-05
|
|
|
APOBEC1
|
[NCBI]
|
2.28151e-05
|
|
|
CEBPB
|
[NCBI]
|
2.04486e-05
|
|
|
XDH
|
[NCBI]
|
2.0036e-05
|
|
|
CYCS
|
[NCBI]
|
1.96889e-05
|
|
|
SLC6A6
|
[NCBI]
|
1.59688e-05
|
|
|
CDA
|
[NCBI]
|
1.59688e-05
|
|
|
CRC
|
[NCBI]
|
1.54346e-05
|
|
|
RPGR
|
[NCBI]
|
1.45634e-05
|
|
|
AQP4
|
[NCBI]
|
1.39834e-05
|
|
|
TNF
|
[NCBI]
|
1.16971e-05
|
|
|
GJB1
|
[NCBI]
|
1.09204e-05
|
|
|
ACADM
|
[NCBI]
|
8.83568e-06
|
|
|
SPINK1
|
[NCBI]
|
8.27521e-06
|
|
|
EPO
|
[NCBI]
|
7.89352e-06
|
|
|
FAAH
|
[NCBI]
|
7.73446e-06
|
|
|
ADA
|
[NCBI]
|
6.047e-06
|
|
|
HDC
|
[NCBI]
|
5.79451e-06
|
|
|
PTH
|
[NCBI]
|
5.48143e-06
|
|
|
INS
|
[NCBI]
|
5.40222e-06
|
|
|
OSM
|
[NCBI]
|
5.11281e-06
|
|
|
MB
|
[NCBI]
|
3.82746e-06
|
|
|
ALB
|
[NCBI]
|
3.10342e-06
|
|
|
PYY
|
[NCBI]
|
2.93853e-06
|
|
|
CHAT
|
[NCBI]
|
2.51889e-06
|
|
|
PTHLH
|
[NCBI]
|
2.35111e-06
|
|
|
CNTF
|
[NCBI]
|
2.16701e-06
|
|
|
AHR
|
[NCBI]
|
1.65545e-06
|
|
|
HGF
|
[NCBI]
|
1.61964e-06
|
|
|
EGF
|
[NCBI]
|
9.1188e-07
|
|
|
G6PD
|
[NCBI]
|
7.66489e-07
|
|
|
CCK
|
[NCBI]
|
6.58826e-07
|
|
|
PRL
|
[NCBI]
|
5.82537e-07
|
|
|
CRH
|
[NCBI]
|
5.71874e-07
|
|
|
AVP
|
[NCBI]
|
8.63129e-08
|
|
|
ACHE
|
[NCBI]
|
2.64246e-08
|
|
|
CAT
|
[NCBI]
|
1.00095e-08
|
|