|
OMIM |
Link |
Information gain |
01 |
|
tricarboxylic acid cycle, defect of
|
[NCBI]
|
0.003491
|
|
|
holocarboxylase synthetase deficiency
|
[NCBI]
|
0.00148206
|
|
|
HDC
|
[NCBI]
|
0.00110558
|
|
|
porphyria cutanea tarda, type i
|
[NCBI]
|
0.00109654
|
|
|
biotinidase deficiency
|
[NCBI]
|
0.0010238
|
|
|
malonyl-coa decarboxylase deficiency
|
[NCBI]
|
0.000938839
|
|
|
propionic acidemia
|
[NCBI]
|
0.000897862
|
|
|
maple syrup urine disease
|
[NCBI]
|
0.000694657
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
0.000658038
|
|
|
porphyria cutanea tarda
|
[NCBI]
|
0.00063504
|
|
|
PCCB
|
[NCBI]
|
0.000506563
|
|
|
MLYCD
|
[NCBI]
|
0.000386133
|
|
|
orotic aciduria i
|
[NCBI]
|
0.000371049
|
|
|
PCCA
|
[NCBI]
|
0.000273742
|
|
|
orotic aciduria ii
|
[NCBI]
|
0.000268082
|
|
|
CDO
|
[NCBI]
|
0.000262811
|
|
|
EPD
|
[NCBI]
|
0.000177662
|
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
0.000163847
|
|
|
succinic semialdehyde dehydrogenase deficiency
|
[NCBI]
|
0.000161531
|
|
|
SLC6A6
|
[NCBI]
|
0.000136133
|
|
|
PAICS
|
[NCBI]
|
0.000115558
|
|
|
PC
|
[NCBI]
|
0.000103439
|
|
|
mevalonic aciduria
|
[NCBI]
|
9.41369e-05
|
|
|
3-@methylcrotonyl-coa carboxylase 2 deficiency
|
[NCBI]
|
8.71034e-05
|
|
|
homocysteinemia
|
[NCBI]
|
5.36186e-05
|
|
|
HLCS
|
[NCBI]
|
4.47875e-05
|
|
|
MTHFD1
|
[NCBI]
|
4.47875e-05
|
|
|
porphyria, acute intermittent
|
[NCBI]
|
4.15268e-05
|
|
|
MVD
|
[NCBI]
|
3.84931e-05
|
|
|
UXS1
|
[NCBI]
|
3.84931e-05
|
|
|
PPCDC
|
[NCBI]
|
3.84931e-05
|
|
|
ACMSD
|
[NCBI]
|
3.84931e-05
|
|
|
PPCS
|
[NCBI]
|
3.84931e-05
|
|
|
LS
|
[NCBI]
|
3.37843e-05
|
|
|
COASY
|
[NCBI]
|
2.82757e-05
|
|
|
PFAS
|
[NCBI]
|
2.82757e-05
|
|
|
CYP1A1
|
[NCBI]
|
2.79569e-05
|
|
|
THH
|
[NCBI]
|
2.64601e-05
|
|
|
AKR1B1
|
[NCBI]
|
2.6006e-05
|
|
|
MTHFD2
|
[NCBI]
|
2.51111e-05
|
|
|
QPRT
|
[NCBI]
|
2.51111e-05
|
|
|
PPAT
|
[NCBI]
|
2.51111e-05
|
|
|
MCCC2
|
[NCBI]
|
2.23807e-05
|
|
|
GPD2
|
[NCBI]
|
2.17136e-05
|
|
|
GART
|
[NCBI]
|
2.17136e-05
|
|
|
ACACB
|
[NCBI]
|
2.11214e-05
|
|
|
DDC
|
[NCBI]
|
2.0935e-05
|
|
|
IVL
|
[NCBI]
|
1.96629e-05
|
|
|
GAD1
|
[NCBI]
|
1.92546e-05
|
|
|
ADSL
|
[NCBI]
|
1.7587e-05
|
|
|
ABP1
|
[NCBI]
|
1.61123e-05
|
|
|
MVK
|
[NCBI]
|
1.49578e-05
|
|
|
PDHA1
|
[NCBI]
|
1.29913e-05
|
|
|
TH
|
[NCBI]
|
1.01715e-05
|
|
|
PPARA
|
[NCBI]
|
9.82028e-06
|
|
|
EGF
|
[NCBI]
|
8.23955e-06
|
|
|
ADA
|
[NCBI]
|
6.98112e-06
|
|
|
CHAT
|
[NCBI]
|
6.28562e-06
|
|
|
PCNA
|
[NCBI]
|
4.32518e-06
|
|
|
GFAP
|
[NCBI]
|
3.75855e-06
|
|
|
NPY
|
[NCBI]
|
2.79697e-06
|
|
|
BDNF
|
[NCBI]
|
2.71134e-06
|
|
|
PRL
|
[NCBI]
|
2.38423e-06
|
|
|
HD
|
[NCBI]
|
2.09847e-06
|
|
|
ACHE
|
[NCBI]
|
1.88515e-06
|
|
|
AR
|
[NCBI]
|
1.87608e-06
|
|
|
MBP
|
[NCBI]
|
1.47173e-06
|
|
|
LPL
|
[NCBI]
|
1.0626e-06
|
|
|
NPPA
|
[NCBI]
|
6.12944e-07
|
|
|
SLC6A3
|
[NCBI]
|
3.84892e-07
|
|
|
GAPDH
|
[NCBI]
|
3.4011e-07
|
|
|
TF
|
[NCBI]
|
2.86889e-07
|
|
|
PTH
|
[NCBI]
|
1.70504e-07
|
|
|
NGFB
|
[NCBI]
|
2.41772e-08
|
|