|
OMIM |
Link |
Information gain |
01 |
|
tricarboxylic acid cycle, defect of
|
[NCBI]
|
0.00235325
|
|
|
valinemia
|
[NCBI]
|
0.00163383
|
|
|
saccharopinuria
|
[NCBI]
|
0.00141158
|
|
|
methylmalonic aciduria and homocystinuria, cbld type
|
[NCBI]
|
0.00133626
|
|
|
red cell phospholipid defect with hemolysis
|
[NCBI]
|
0.00133626
|
|
|
carnitine deficiency, myopathic
|
[NCBI]
|
0.00113239
|
|
|
beta-aminoisobutyric acid, urinary excretion of
|
[NCBI]
|
0.00109527
|
|
|
storage pool platelet disease
|
[NCBI]
|
0.00109527
|
|
|
refsum disease
|
[NCBI]
|
0.00045982
|
|
|
phosphoribosylpyrophosphate synthetase superactivity
|
[NCBI]
|
0.000353682
|
|
|
RA
|
[NCBI]
|
0.000348805
|
|
|
GCE
|
[NCBI]
|
0.000329909
|
|
|
AIS
|
[NCBI]
|
0.000310518
|
|
|
methylmalonic aciduria and homocystinuria, cblc type
|
[NCBI]
|
0.000240468
|
|
|
SLE
|
[NCBI]
|
0.000237419
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
0.000219092
|
|
|
GLYS1
|
[NCBI]
|
0.000199656
|
|
|
halothane hepatitis
|
[NCBI]
|
0.000181163
|
|
|
GGM
|
[NCBI]
|
0.000181163
|
|
|
methylmalonic aciduria, cbla type
|
[NCBI]
|
0.000181163
|
|
|
galactosemia
|
[NCBI]
|
0.000176765
|
|
|
maple syrup urine disease
|
[NCBI]
|
0.000164782
|
|
|
EPD
|
[NCBI]
|
0.000161145
|
|
|
xanthinuria, type i
|
[NCBI]
|
0.00015512
|
|
|
galactokinase deficiency
|
[NCBI]
|
0.00015512
|
|
|
gamma-a-globulin, defect in assembly of
|
[NCBI]
|
0.000147342
|
|
|
citrulline transport defect
|
[NCBI]
|
0.000147342
|
|
|
hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase
|
[NCBI]
|
0.000147342
|
|
|
PC
|
[NCBI]
|
0.000132764
|
|
|
HSAN3
|
[NCBI]
|
0.000131638
|
|
|
hyperoxaluria, primary, type i
|
[NCBI]
|
0.000124066
|
|
|
glutamate monosodium sensitivity
|
[NCBI]
|
9.04668e-05
|
|
|
beta thalassemia, dominant inclusion body type
|
[NCBI]
|
9.04668e-05
|
|
|
lipomatosis, familial benign cervical
|
[NCBI]
|
8.59136e-05
|
|
|
hyperoxaluria, primary, type ii
|
[NCBI]
|
8.21331e-05
|
|
|
lactic acidosis, fatal infantile
|
[NCBI]
|
7.89018e-05
|
|
|
HPRT1
|
[NCBI]
|
7.87538e-05
|
|
|
formiminotransferase deficiency
|
[NCBI]
|
7.13319e-05
|
|
|
hexokinase deficiency hemolytic anemia
|
[NCBI]
|
7.13319e-05
|
|
|
hyperlysinemia
|
[NCBI]
|
7.13319e-05
|
|
|
thyrotropin deficiency, isolated
|
[NCBI]
|
6.74268e-05
|
|
|
myeloperoxidase deficiency
|
[NCBI]
|
6.57074e-05
|
|
|
cystathioninuria
|
[NCBI]
|
6.57074e-05
|
|
|
gaucher disease, type ii
|
[NCBI]
|
6.57074e-05
|
|
|
APOB
|
[NCBI]
|
6.53821e-05
|
|
|
hartnup disorder
|
[NCBI]
|
6.41136e-05
|
|
|
17-@beta hydroxysteroid dehydrogenase iii deficiency
|
[NCBI]
|
6.26286e-05
|
|
|
CHS
|
[NCBI]
|
6.08634e-05
|
|
|
3-@methylcrotonyl-coa carboxylase 1 deficiency
|
[NCBI]
|
5.99328e-05
|
|
|
CHNG1
|
[NCBI]
|
5.87014e-05
|
|
|
TMAU
|
[NCBI]
|
5.87014e-05
|
|
|
gilbert syndrome
|
[NCBI]
|
5.75368e-05
|
|
|
alkaptonuria
|
[NCBI]
|
5.64322e-05
|
|
|
homocystinuria
|
[NCBI]
|
5.60683e-05
|
|
|
propionic acidemia
|
[NCBI]
|
5.25109e-05
|
|
|
argininemia
|
[NCBI]
|
5.16344e-05
|
|
|
glycogen storage disease iii
|
[NCBI]
|
5.07931e-05
|
|
|
PBD
|
[NCBI]
|
5.07931e-05
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
5.07931e-05
|
|
|
FPLD2
|
[NCBI]
|
5.07931e-05
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
4.99842e-05
|
|
|
G6PD
|
[NCBI]
|
4.31769e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
4.00985e-05
|
|
|
homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity
|
[NCBI]
|
3.96159e-05
|
|
|
biotinidase deficiency
|
[NCBI]
|
3.91448e-05
|
|
|
TRN
|
[NCBI]
|
3.5906e-05
|
|
|
LNS
|
[NCBI]
|
3.53496e-05
|
|
|
porphyria, acute intermittent
|
[NCBI]
|
3.38769e-05
|
|
|
TRG1
|
[NCBI]
|
3.31057e-05
|
|
|
TRNP3
|
[NCBI]
|
3.12877e-05
|
|
|
SHMT2
|
[NCBI]
|
3.12877e-05
|
|
|
CGD
|
[NCBI]
|
3.06341e-05
|
|
|
ATE1
|
[NCBI]
|
2.99363e-05
|
|
|
FMO4
|
[NCBI]
|
2.88597e-05
|
|
|
DHFR
|
[NCBI]
|
2.84459e-05
|
|
|
ACADM
|
[NCBI]
|
2.79921e-05
|
|
|
thyrotropin-releasing hormone deficiency
|
[NCBI]
|
2.71987e-05
|
|
|
CF
|
[NCBI]
|
2.70064e-05
|
|
|
LS
|
[NCBI]
|
2.64159e-05
|
|
|
krabbe disease
|
[NCBI]
|
2.55033e-05
|
|
|
CNTFR
|
[NCBI]
|
2.44689e-05
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
2.40582e-05
|
|
|
HBB
|
[NCBI]
|
2.202e-05
|
|
|
SLC6A4
|
[NCBI]
|
2.0427e-05
|
|
|
DLG1
|
[NCBI]
|
2.027e-05
|
|
|
RBP4
|
[NCBI]
|
1.93835e-05
|
|
|
DDOST
|
[NCBI]
|
1.92229e-05
|
|
|
GPX1
|
[NCBI]
|
1.9067e-05
|
|
|
MAOB
|
[NCBI]
|
1.89156e-05
|
|
|
LCAT
|
[NCBI]
|
1.83594e-05
|
|
|
protoporphyria, erythropoietic
|
[NCBI]
|
1.68479e-05
|
|
|
ARF1
|
[NCBI]
|
1.64612e-05
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
1.41103e-05
|
|
|
SLC6A3
|
[NCBI]
|
1.22298e-05
|
|
|
PG
|
[NCBI]
|
1.18307e-05
|
|
|
AHR
|
[NCBI]
|
1.13713e-05
|
|
|
phenylketonuria
|
[NCBI]
|
9.5984e-06
|
|
|
MPO
|
[NCBI]
|
7.9112e-06
|
|
|
LDLR
|
[NCBI]
|
7.23617e-06
|
|
|
LRP1
|
[NCBI]
|
7.14018e-06
|
|
|
GPI
|
[NCBI]
|
7.07292e-06
|
|
|
BCHE
|
[NCBI]
|
7.00671e-06
|
|
|
HBA1
|
[NCBI]
|
6.98051e-06
|
|
|
EGF
|
[NCBI]
|
6.72694e-06
|
|
|
CVID
|
[NCBI]
|
6.6339e-06
|
|
|
CYP1A1
|
[NCBI]
|
4.72913e-06
|
|
|
TTR
|
[NCBI]
|
3.36591e-06
|
|
|
GDNF
|
[NCBI]
|
2.47541e-06
|
|
|
PTH
|
[NCBI]
|
1.19638e-06
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
1.05357e-06
|
|
|
AVP
|
[NCBI]
|
9.05952e-07
|
|
|
CFTR
|
[NCBI]
|
5.54179e-07
|
|
|
EGFR
|
[NCBI]
|
3.63776e-07
|
|
|
NPY
|
[NCBI]
|
3.36387e-07
|
|
|
LPL
|
[NCBI]
|
2.66339e-07
|
|
|
MBP
|
[NCBI]
|
1.46099e-07
|
|
|
AR
|
[NCBI]
|
7.16971e-08
|
|
|
BDNF
|
[NCBI]
|
4.39391e-09
|
|
|
NGFB
|
[NCBI]
|
3.47032e-09
|
|