|
OMIM |
Link |
Information gain |
01 |
|
maple syrup urine disease
|
[NCBI]
|
0.00247245
|
|
|
valinemia
|
[NCBI]
|
0.00224712
|
|
|
methionine malabsorption syndrome
|
[NCBI]
|
0.00211895
|
|
|
ketoadipicaciduria
|
[NCBI]
|
0.000177262
|
|
|
aromatic alpha-keto acid reductase
|
[NCBI]
|
0.000133766
|
|
|
succinyl-coa:3-oxoacid coa transferase deficiency
|
[NCBI]
|
9.89274e-05
|
|
|
cystathioninuria
|
[NCBI]
|
9.52902e-05
|
|
|
alpha-methylacetoacetic aciduria
|
[NCBI]
|
9.21595e-05
|
|
|
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to
|
[NCBI]
|
8.58334e-05
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
7.6872e-05
|
|
|
acyl-coa dehydrogenase, medium-chain, deficiency of
|
[NCBI]
|
7.61462e-05
|
|
|
hyperoxaluria, primary, type i
|
[NCBI]
|
7.54433e-05
|
|
|
DAO
|
[NCBI]
|
5.29536e-05
|
|
|
BCAT2
|
[NCBI]
|
3.64336e-05
|
|
|
BCAT1
|
[NCBI]
|
3.30219e-05
|
|
|
ACACB
|
[NCBI]
|
3.24261e-05
|
|
|
HADH
|
[NCBI]
|
3.09569e-05
|
|
|
BCKDHA
|
[NCBI]
|
3.01627e-05
|
|
|
ACAT1
|
[NCBI]
|
3.01627e-05
|
|
|
DLD
|
[NCBI]
|
2.655e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
2.20307e-05
|
|
|
GCK
|
[NCBI]
|
2.01623e-05
|
|
|
homocystinuria
|
[NCBI]
|
1.91903e-05
|
|
|
CAT
|
[NCBI]
|
1.50016e-05
|
|
|
IAPP
|
[NCBI]
|
1.35236e-05
|
|
|
MPO
|
[NCBI]
|
1.22032e-05
|
|
|
EPO
|
[NCBI]
|
1.06925e-05
|
|
|
CCK
|
[NCBI]
|
1.01639e-05
|
|
|
FRAP1
|
[NCBI]
|
9.36624e-06
|
|
|
PTH
|
[NCBI]
|
6.34205e-06
|
|
|
GFAP
|
[NCBI]
|
2.41521e-06
|
|
|
PRL
|
[NCBI]
|
6.00704e-07
|
|