|
OMIM |
Link |
Information gain |
01 |
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
0.0103697
|
|
|
OTC
|
[NCBI]
|
0.00242283
|
|
|
AIC
|
[NCBI]
|
0.00240735
|
|
|
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to
|
[NCBI]
|
0.000376943
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
0.000264501
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
0.000152009
|
|
|
MCOPCT3
|
[NCBI]
|
0.000151941
|
|
|
muscular dystrophy, hemizygous lethal type
|
[NCBI]
|
0.000151941
|
|
|
wildervanck syndrome
|
[NCBI]
|
0.000120378
|
|
|
coxoauricular syndrome
|
[NCBI]
|
0.000120378
|
|
|
retinitis pigmentosa, x-linked, with recurrent respiratory infections
|
[NCBI]
|
9.50396e-05
|
|
|
LPI
|
[NCBI]
|
9.21766e-05
|
|
|
OFD1
|
[NCBI]
|
8.66929e-05
|
|
|
FDH
|
[NCBI]
|
8.66929e-05
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
8.34551e-05
|
|
|
CF
|
[NCBI]
|
8.15495e-05
|
|
|
MNS
|
[NCBI]
|
8.06279e-05
|
|
|
n-acetylglutamate synthase deficiency
|
[NCBI]
|
7.58657e-05
|
|
|
CDPX1
|
[NCBI]
|
7.58657e-05
|
|
|
RP3
|
[NCBI]
|
5.8837e-05
|
|
|
ASS
|
[NCBI]
|
5.84349e-05
|
|
|
FPLD2
|
[NCBI]
|
5.5223e-05
|
|
|
hyperglycerolemia
|
[NCBI]
|
5.44076e-05
|
|
|
RPGR
|
[NCBI]
|
4.12402e-05
|
|
|
IP
|
[NCBI]
|
4.08015e-05
|
|
|
TOMM22
|
[NCBI]
|
3.65978e-05
|
|
|
PC
|
[NCBI]
|
3.35482e-05
|
|
|
NAGS
|
[NCBI]
|
2.40103e-05
|
|
|
AGXT
|
[NCBI]
|
2.36768e-05
|
|
|
CPS1
|
[NCBI]
|
2.25199e-05
|
|
|
XK
|
[NCBI]
|
2.17927e-05
|
|
|
IVD
|
[NCBI]
|
2.05835e-05
|
|
|
DMD
|
[NCBI]
|
2.04988e-05
|
|
|
DPYD
|
[NCBI]
|
1.87729e-05
|
|
|
GPT
|
[NCBI]
|
1.4726e-05
|
|
|
CHAT
|
[NCBI]
|
5.48775e-06
|
|
|
TNF
|
[NCBI]
|
5.02307e-06
|
|
|
GAPDH
|
[NCBI]
|
3.50787e-06
|
|
|
DHFR
|
[NCBI]
|
1.77958e-06
|
|
|
AFP
|
[NCBI]
|
1.94981e-07
|
|
|
ACHE
|
[NCBI]
|
9.99712e-08
|
|