|
OMIM |
Link |
Information gain |
01 |
|
beta-aminoisobutyric acid, urinary excretion of
|
[NCBI]
|
0.00129156
|
|
|
xanthinuria, type i
|
[NCBI]
|
0.000941692
|
|
|
DPYD
|
[NCBI]
|
0.000886708
|
|
|
phosphoribosylpyrophosphate synthetase superactivity
|
[NCBI]
|
0.000802928
|
|
|
HPRT1
|
[NCBI]
|
0.000744406
|
|
|
LNS
|
[NCBI]
|
0.00069128
|
|
|
ADA
|
[NCBI]
|
0.000560955
|
|
|
APRT
|
[NCBI]
|
0.000537122
|
|
|
uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
|
[NCBI]
|
0.000352685
|
|
|
orotic aciduria i
|
[NCBI]
|
0.000332204
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
0.000324101
|
|
|
gout, hprt-related
|
[NCBI]
|
0.000283897
|
|
|
molybdenum cofactor deficiency
|
[NCBI]
|
0.000244588
|
|
|
DPYS
|
[NCBI]
|
0.000186982
|
|
|
hypouricemia, renal
|
[NCBI]
|
0.000161595
|
|
|
XDH
|
[NCBI]
|
0.000133188
|
|
|
hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase
|
[NCBI]
|
0.000122855
|
|
|
xanthinuria, type ii
|
[NCBI]
|
0.000122855
|
|
|
NP
|
[NCBI]
|
0.000118843
|
|
|
PRPS1
|
[NCBI]
|
0.000102152
|
|
|
ADSL
|
[NCBI]
|
9.94878e-05
|
|
|
orotic aciduria ii
|
[NCBI]
|
9.19162e-05
|
|
|
adenylosuccinase deficiency
|
[NCBI]
|
7.40507e-05
|
|
|
UPB1
|
[NCBI]
|
7.33628e-05
|
|
|
NT5M
|
[NCBI]
|
7.33628e-05
|
|
|
NT5C
|
[NCBI]
|
7.33628e-05
|
|
|
formiminotransferase deficiency
|
[NCBI]
|
7.02305e-05
|
|
|
MOCS1
|
[NCBI]
|
4.85157e-05
|
|
|
NT5C3
|
[NCBI]
|
4.48619e-05
|
|
|
TK1
|
[NCBI]
|
4.34431e-05
|
|
|
SLC25A4
|
[NCBI]
|
3.30539e-05
|
|
|
G6PD
|
[NCBI]
|
9.40741e-07
|
|