|
OMIM |
Link |
Information gain |
01 |
|
red cell phospholipid defect with hemolysis
|
[NCBI]
|
0.00194777
|
|
|
methylmalonic aciduria and homocystinuria, cbld type
|
[NCBI]
|
0.00194777
|
|
|
refsum disease
|
[NCBI]
|
0.000325945
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
0.000307468
|
|
|
IVA
|
[NCBI]
|
0.000305196
|
|
|
methylmalonic aciduria, cbla type
|
[NCBI]
|
0.000239722
|
|
|
alpha-methylacetoacetic aciduria
|
[NCBI]
|
0.000216436
|
|
|
glutaric acidemia i
|
[NCBI]
|
0.000199028
|
|
|
methylmalonic aciduria and homocystinuria, cblc type
|
[NCBI]
|
0.000199028
|
|
|
propionic acidemia
|
[NCBI]
|
0.000195079
|
|
|
beta-hydroxyisobutyryl coa deacylase, deficiency of
|
[NCBI]
|
0.000144836
|
|
|
INAD1
|
[NCBI]
|
0.000125189
|
|
|
succinyl-coa:3-oxoacid coa transferase deficiency
|
[NCBI]
|
9.80872e-05
|
|
|
mucopolysaccharidosis type iiic
|
[NCBI]
|
9.61957e-05
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
9.44507e-05
|
|
|
NBIA1
|
[NCBI]
|
9.28313e-05
|
|
|
coenzyme q10 deficiency
|
[NCBI]
|
9.13207e-05
|
|
|
COASY
|
[NCBI]
|
8.76302e-05
|
|
|
acyl-coa dehydrogenase, short-chain, deficiency of
|
[NCBI]
|
8.73168e-05
|
|
|
HGSNAT
|
[NCBI]
|
7.98371e-05
|
|
|
biotinidase deficiency
|
[NCBI]
|
6.70691e-05
|
|
|
PANK2
|
[NCBI]
|
6.24999e-05
|
|
|
HSD17B4
|
[NCBI]
|
6.24999e-05
|
|
|
maple syrup urine disease
|
[NCBI]
|
5.82949e-05
|
|
|
CDO
|
[NCBI]
|
5.48202e-05
|
|
|
C10ORF22
|
[NCBI]
|
4.88352e-05
|
|
|
PPCDC
|
[NCBI]
|
4.88352e-05
|
|
|
NUDT7
|
[NCBI]
|
4.88352e-05
|
|
|
PPCS
|
[NCBI]
|
4.88352e-05
|
|
|
CROT
|
[NCBI]
|
4.14123e-05
|
|
|
GLYAT
|
[NCBI]
|
4.14123e-05
|
|
|
HIBCH
|
[NCBI]
|
3.86109e-05
|
|
|
SLC25A16
|
[NCBI]
|
3.86109e-05
|
|
|
SLE
|
[NCBI]
|
3.54576e-05
|
|
|
ACLY
|
[NCBI]
|
3.54394e-05
|
|
|
CRAT
|
[NCBI]
|
3.20281e-05
|
|
|
HADH
|
[NCBI]
|
2.99635e-05
|
|
|
PCCB
|
[NCBI]
|
2.70636e-05
|
|
|
ACACA
|
[NCBI]
|
2.68207e-05
|
|
|
3-@hydroxy-3-methylglutaryl-coa lyase deficiency
|
[NCBI]
|
2.63658e-05
|
|
|
CHAT
|
[NCBI]
|
2.61396e-05
|
|
|
ACOX1
|
[NCBI]
|
2.57489e-05
|
|
|
IVD
|
[NCBI]
|
2.5374e-05
|
|
|
isoniazid inactivation
|
[NCBI]
|
2.23004e-05
|
|
|
NAT1
|
[NCBI]
|
2.18161e-05
|
|
|
UCP3
|
[NCBI]
|
1.93481e-05
|
|
|
ACADM
|
[NCBI]
|
1.57034e-05
|
|
|
G6PD
|
[NCBI]
|
5.73947e-06
|
|
|
VDR
|
[NCBI]
|
5.3832e-06
|
|