|
OMIM |
Link |
Information gain |
01 |
|
LPI
|
[NCBI]
|
0.00480814
|
|
|
MCDU
|
[NCBI]
|
0.00316611
|
|
|
tyrosinemia, type i
|
[NCBI]
|
0.00288305
|
|
|
histidinuria due to a renal tubular defect
|
[NCBI]
|
0.00230868
|
|
|
methionine malabsorption syndrome
|
[NCBI]
|
0.00230868
|
|
|
saccharopinuria
|
[NCBI]
|
0.00230868
|
|
|
hydroxykynureninuria
|
[NCBI]
|
0.00213379
|
|
|
d-glyceric acidemia
|
[NCBI]
|
0.00191234
|
|
|
dibasicaminoaciduria i
|
[NCBI]
|
0.00176969
|
|
|
iminoglycinuria
|
[NCBI]
|
0.0017051
|
|
|
histidinemia
|
[NCBI]
|
0.00165998
|
|
|
citrullinemia, classic
|
[NCBI]
|
0.00158793
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
0.00154827
|
|
|
valinemia
|
[NCBI]
|
0.00147001
|
|
|
argininemia
|
[NCBI]
|
0.00122949
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
0.00118961
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
0.0011714
|
|
|
ASS
|
[NCBI]
|
0.00116853
|
|
|
IVA
|
[NCBI]
|
0.00106293
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
0.00105946
|
|
|
GCE
|
[NCBI]
|
0.00104888
|
|
|
5-@oxoprolinase deficiency
|
[NCBI]
|
0.000882469
|
|
|
cystathioninuria
|
[NCBI]
|
0.000842267
|
|
|
GCDH
|
[NCBI]
|
0.000838503
|
|
|
SLE
|
[NCBI]
|
0.000804952
|
|
|
hyperlysinemia
|
[NCBI]
|
0.000793385
|
|
|
methionine adenosyltransferase deficiency
|
[NCBI]
|
0.000734038
|
|
|
hyperprolinemia, type i
|
[NCBI]
|
0.000734038
|
|
|
glutaric acidemia i
|
[NCBI]
|
0.000723623
|
|
|
sarcosinemia
|
[NCBI]
|
0.000710094
|
|
|
hyperprolinemia, type ii
|
[NCBI]
|
0.000710094
|
|
|
propionic acidemia
|
[NCBI]
|
0.000697853
|
|
|
3-@hydroxyisobutyric aciduria
|
[NCBI]
|
0.000665076
|
|
|
PCCB
|
[NCBI]
|
0.000608709
|
|
|
beta-aminoisobutyric acid, urinary excretion of
|
[NCBI]
|
0.000583375
|
|
|
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to
|
[NCBI]
|
0.00056123
|
|
|
trichohepatoenteric syndrome
|
[NCBI]
|
0.000530517
|
|
|
methylmalonic aciduria, cbla type
|
[NCBI]
|
0.000515871
|
|
|
carnosinemia
|
[NCBI]
|
0.000491357
|
|
|
tyrosine transaminase deficiency
|
[NCBI]
|
0.000479026
|
|
|
thyroid hormonogenesis, genetic defect in, 4
|
[NCBI]
|
0.000460266
|
|
|
3-@hydroxy-3-methylglutaryl-coa lyase deficiency
|
[NCBI]
|
0.000457554
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
0.000448051
|
|
|
methylmalonic aciduria and homocystinuria, cblc type
|
[NCBI]
|
0.000438233
|
|
|
MUT
|
[NCBI]
|
0.000432615
|
|
|
hydroxyprolinemia
|
[NCBI]
|
0.000423388
|
|
|
hawkinsinuria
|
[NCBI]
|
0.000423388
|
|
|
OTC
|
[NCBI]
|
0.000393801
|
|
|
SLC7A7
|
[NCBI]
|
0.000390987
|
|
|
homocystinuria
|
[NCBI]
|
0.00039031
|
|
|
HAL
|
[NCBI]
|
0.000360707
|
|
|
hydroxyacyl-coa dehydrogenase ii deficiency
|
[NCBI]
|
0.000355674
|
|
|
HPD
|
[NCBI]
|
0.000332193
|
|
|
alpha-methylacetoacetic aciduria
|
[NCBI]
|
0.000323512
|
|
|
MADD
|
[NCBI]
|
0.000322643
|
|
|
ARG1
|
[NCBI]
|
0.000316034
|
|
|
phosphoglycerate dehydrogenase deficiency
|
[NCBI]
|
0.000298171
|
|
|
3-@methylcrotonyl-coa carboxylase 1 deficiency
|
[NCBI]
|
0.000283675
|
|
|
PCCA
|
[NCBI]
|
0.000278163
|
|
|
MAT1A
|
[NCBI]
|
0.000278163
|
|
|
biotinidase deficiency
|
[NCBI]
|
0.000274244
|
|
|
phenylketonuria
|
[NCBI]
|
0.00026164
|
|
|
tyrosinemia, type iii
|
[NCBI]
|
0.000261412
|
|
|
GAMT
|
[NCBI]
|
0.000254402
|
|
|
hypertryptophanemia, familial
|
[NCBI]
|
0.000253932
|
|
|
l-2-hydroxyglutaric aciduria
|
[NCBI]
|
0.000249101
|
|
|
AMT
|
[NCBI]
|
0.00023173
|
|
|
glutathione synthetase deficiency
|
[NCBI]
|
0.000230067
|
|
|
AIC
|
[NCBI]
|
0.000224755
|
|
|
d-2-@hydroxyglutaric aciduria
|
[NCBI]
|
0.000222371
|
|
|
ALDH4A1
|
[NCBI]
|
0.000215507
|
|
|
SLC25A15
|
[NCBI]
|
0.000215507
|
|
|
ASL
|
[NCBI]
|
0.000214601
|
|
|
homocysteinemia
|
[NCBI]
|
0.00020645
|
|
|
3-@methylcrotonyl-coa carboxylase 2 deficiency
|
[NCBI]
|
0.000199557
|
|
|
AUH
|
[NCBI]
|
0.000192906
|
|
|
PTS
|
[NCBI]
|
0.000186311
|
|
|
holocarboxylase synthetase deficiency
|
[NCBI]
|
0.000181439
|
|
|
SARDH
|
[NCBI]
|
0.000180224
|
|
|
d-2-@hydroxyglutarate dehydrogenase
|
[NCBI]
|
0.000180224
|
|
|
phenylketonuria ii
|
[NCBI]
|
0.000176626
|
|
|
urocanase deficiency
|
[NCBI]
|
0.000169254
|
|
|
2-@methylbutyryl-coa dehydrogenase deficiency
|
[NCBI]
|
0.000169254
|
|
|
alport syndrome, autosomal dominant
|
[NCBI]
|
0.000156493
|
|
|
GLDC
|
[NCBI]
|
0.000143503
|
|
|
succinic semialdehyde dehydrogenase deficiency
|
[NCBI]
|
0.000126736
|
|
|
ARG2
|
[NCBI]
|
0.00012012
|
|
|
ADHFE1
|
[NCBI]
|
0.00012012
|
|
|
ACADSB
|
[NCBI]
|
0.00012012
|
|
|
hartnup disorder
|
[NCBI]
|
0.000118372
|
|
|
homocarnosinosis
|
[NCBI]
|
0.000114968
|
|
|
IVD
|
[NCBI]
|
0.000113355
|
|
|
aromatic l-amino acid decarboxylase deficiency
|
[NCBI]
|
0.000107695
|
|
|
canavan disease
|
[NCBI]
|
0.000107155
|
|
|
n-acetylglutamate synthase deficiency
|
[NCBI]
|
0.000101804
|
|
|
gtp cyclohydrolase i deficiency
|
[NCBI]
|
0.000101804
|
|
|
gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
|
[NCBI]
|
0.000101804
|
|
|
MCCC2
|
[NCBI]
|
0.000101162
|
|
|
MCCC1
|
[NCBI]
|
0.000101162
|
|
|
SLC7A2
|
[NCBI]
|
0.000101162
|
|
|
PEPD
|
[NCBI]
|
9.50332e-05
|
|
|
GLUL
|
[NCBI]
|
9.26059e-05
|
|
|
ETFB
|
[NCBI]
|
9.26059e-05
|
|
|
ETFA
|
[NCBI]
|
9.26059e-05
|
|
|
formiminotransferase deficiency
|
[NCBI]
|
8.88374e-05
|
|
|
weill-marchesani syndrome, autosomal recessive
|
[NCBI]
|
8.88374e-05
|
|
|
homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity
|
[NCBI]
|
8.81242e-05
|
|
|
PCBD1
|
[NCBI]
|
8.674e-05
|
|
|
GCSH
|
[NCBI]
|
8.674e-05
|
|
|
CTLN2
|
[NCBI]
|
8.54964e-05
|
|
|
tachycardia, hypertension, microphthalmia, and hyperglycinuria
|
[NCBI]
|
8.46104e-05
|
|
|
threoninemia
|
[NCBI]
|
8.46104e-05
|
|
|
hyperlysinuria with hyperammonemia
|
[NCBI]
|
8.46104e-05
|
|
|
glutamine deficiency, congenital
|
[NCBI]
|
8.46104e-05
|
|
|
phosphoserine aminotransferase deficiency
|
[NCBI]
|
8.46104e-05
|
|
|
ketoadipicaciduria
|
[NCBI]
|
8.46104e-05
|
|
|
hyperlysinemia due to defect in lysine transport into mitochondria
|
[NCBI]
|
8.46104e-05
|
|
|
glutaryl-coa oxidase deficiency
|
[NCBI]
|
8.46104e-05
|
|
|
NAGS
|
[NCBI]
|
7.86076e-05
|
|
|
ornithine aminotransferase deficiency
|
[NCBI]
|
7.59337e-05
|
|
|
CPS1
|
[NCBI]
|
7.55417e-05
|
|
|
GSS
|
[NCBI]
|
7.55417e-05
|
|
|
NETH
|
[NCBI]
|
6.88711e-05
|
|
|
APOH
|
[NCBI]
|
6.84865e-05
|
|
|
SPR
|
[NCBI]
|
6.48987e-05
|
|
|
methylmalonic aciduria, cblh type
|
[NCBI]
|
6.22256e-05
|
|
|
blue diaper syndrome
|
[NCBI]
|
6.22256e-05
|
|
|
coxoauricular syndrome
|
[NCBI]
|
6.22256e-05
|
|
|
beta-hydroxyisobutyryl coa deacylase, deficiency of
|
[NCBI]
|
6.22256e-05
|
|
|
hyper-beta-alaninemia
|
[NCBI]
|
6.22256e-05
|
|
|
MCOPCT3
|
[NCBI]
|
6.22256e-05
|
|
|
pancreatic beta cell agenesis with neonatal diabetes mellitus
|
[NCBI]
|
6.22256e-05
|
|
|
pellagra-like syndrome
|
[NCBI]
|
6.22256e-05
|
|
|
SLC6A8
|
[NCBI]
|
6.1875e-05
|
|
|
PRODH
|
[NCBI]
|
6.1875e-05
|
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
6.09428e-05
|
|
|
PSAT1
|
[NCBI]
|
6.00458e-05
|
|
|
MMSDH
|
[NCBI]
|
6.00458e-05
|
|
|
MPST
|
[NCBI]
|
6.00458e-05
|
|
|
ACAD8
|
[NCBI]
|
6.00458e-05
|
|
|
PYCS
|
[NCBI]
|
6.00458e-05
|
|
|
SLC7A4
|
[NCBI]
|
6.00458e-05
|
|
|
MAT2A
|
[NCBI]
|
6.00458e-05
|
|
|
methylmalonyl-coa epimerase deficiency
|
[NCBI]
|
5.38312e-05
|
|
|
hyperphenylalaninemia with primapterinuria
|
[NCBI]
|
5.38312e-05
|
|
|
dicarboxylicamino aciduria
|
[NCBI]
|
5.38312e-05
|
|
|
syringomas, multiple
|
[NCBI]
|
5.38312e-05
|
|
|
aminoadipic aciduria
|
[NCBI]
|
5.38312e-05
|
|
|
muscular dystrophy, hemizygous lethal type
|
[NCBI]
|
5.38312e-05
|
|
|
alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus
|
[NCBI]
|
5.38312e-05
|
|
|
aminoacylase 1 deficiency
|
[NCBI]
|
5.38312e-05
|
|
|
MCEE
|
[NCBI]
|
4.62887e-05
|
|
|
HIBCH
|
[NCBI]
|
4.62887e-05
|
|
|
GCLC
|
[NCBI]
|
4.62887e-05
|
|
|
ABAT
|
[NCBI]
|
4.62887e-05
|
|
|
glutathionuria
|
[NCBI]
|
4.62887e-05
|
|
|
SLC7A6
|
[NCBI]
|
4.62887e-05
|
|
|
CTH
|
[NCBI]
|
4.62887e-05
|
|
|
AASS
|
[NCBI]
|
4.62887e-05
|
|
|
GSTZ1
|
[NCBI]
|
4.62887e-05
|
|
|
PHGDH
|
[NCBI]
|
4.62887e-05
|
|
|
glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to
|
[NCBI]
|
4.44027e-05
|
|
|
hyperoxaluria, primary, type ii
|
[NCBI]
|
4.12264e-05
|
|
|
segawa syndrome, autosomal recessive
|
[NCBI]
|
4.12264e-05
|
|
|
CTRB1
|
[NCBI]
|
4.11109e-05
|
|
|
L2HGDH
|
[NCBI]
|
4.11109e-05
|
|
|
GATM
|
[NCBI]
|
4.11109e-05
|
|
|
homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type
|
[NCBI]
|
3.85999e-05
|
|
|
SLC7A8
|
[NCBI]
|
3.77567e-05
|
|
|
PC
|
[NCBI]
|
3.66678e-05
|
|
|
bile acid synthesis defect, congenital, 2
|
[NCBI]
|
3.6364e-05
|
|
|
hyperpipecolatemia
|
[NCBI]
|
3.6364e-05
|
|
|
ectopia lentis, isolated
|
[NCBI]
|
3.6364e-05
|
|
|
PSPH
|
[NCBI]
|
3.52686e-05
|
|
|
AHCY
|
[NCBI]
|
3.52686e-05
|
|
|
ALDH5A1
|
[NCBI]
|
3.52686e-05
|
|
|
ACAT1
|
[NCBI]
|
3.52686e-05
|
|
|
methylcobalamin deficiency, cblg type
|
[NCBI]
|
3.44202e-05
|
|
|
citrullinemia, type ii, neonatal-onset
|
[NCBI]
|
3.44202e-05
|
|
|
ETFDH
|
[NCBI]
|
3.32907e-05
|
|
|
MTHFR
|
[NCBI]
|
3.22578e-05
|
|
|
ACY1
|
[NCBI]
|
3.16498e-05
|
|
|
HLCS
|
[NCBI]
|
3.02485e-05
|
|
|
wildervanck syndrome
|
[NCBI]
|
2.97794e-05
|
|
|
HSD17B10
|
[NCBI]
|
2.90263e-05
|
|
|
ATS
|
[NCBI]
|
2.85148e-05
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
2.79958e-05
|
|
|
SLC1A1
|
[NCBI]
|
2.79431e-05
|
|
|
SLC25A13
|
[NCBI]
|
2.79431e-05
|
|
|
SLC3A2
|
[NCBI]
|
2.79431e-05
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
2.73545e-05
|
|
|
vitamin d-dependent rickets, type i
|
[NCBI]
|
2.52898e-05
|
|
|
GVM
|
[NCBI]
|
2.52898e-05
|
|
|
cirrhosis, familial
|
[NCBI]
|
2.34976e-05
|
|
|
FMO3
|
[NCBI]
|
2.32158e-05
|
|
|
GPX1
|
[NCBI]
|
2.32158e-05
|
|
|
CDPX1
|
[NCBI]
|
2.26844e-05
|
|
|
SLC25A20
|
[NCBI]
|
2.26177e-05
|
|
|
CD
|
[NCBI]
|
2.20491e-05
|
|
|
SPG2
|
[NCBI]
|
2.11957e-05
|
|
|
HBFQTL1
|
[NCBI]
|
1.98621e-05
|
|
|
MNS
|
[NCBI]
|
1.98621e-05
|
|
|
PLOD1
|
[NCBI]
|
1.96759e-05
|
|
|
transcobalamin ii deficiency
|
[NCBI]
|
1.96759e-05
|
|
|
APRT
|
[NCBI]
|
1.96586e-05
|
|
|
ACADS
|
[NCBI]
|
1.92672e-05
|
|
|
PRSS1
|
[NCBI]
|
1.92672e-05
|
|
|
acyl-coa dehydrogenase, medium-chain, deficiency of
|
[NCBI]
|
1.9245e-05
|
|
|
JBS
|
[NCBI]
|
1.9245e-05
|
|
|
ehlers-danlos syndrome, type vi
|
[NCBI]
|
1.86572e-05
|
|
|
GCH1
|
[NCBI]
|
1.77991e-05
|
|
|
OFD1
|
[NCBI]
|
1.70481e-05
|
|
|
DDC
|
[NCBI]
|
1.65437e-05
|
|
|
PDHA1
|
[NCBI]
|
1.5979e-05
|
|
|
AFP
|
[NCBI]
|
1.52862e-05
|
|
|
CDSP
|
[NCBI]
|
1.43757e-05
|
|
|
FPLD2
|
[NCBI]
|
1.43757e-05
|
|
|
hyperoxaluria, primary, type i
|
[NCBI]
|
1.39868e-05
|
|
|
glycogen storage disease v
|
[NCBI]
|
1.36114e-05
|
|
|
FH
|
[NCBI]
|
1.32193e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
1.25599e-05
|
|
|
RPGR
|
[NCBI]
|
1.1481e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
1.10199e-05
|
|
|
BTHS
|
[NCBI]
|
1.10199e-05
|
|
|
FDH
|
[NCBI]
|
1.07394e-05
|
|
|
WFS1
|
[NCBI]
|
1.0467e-05
|
|
|
MTR
|
[NCBI]
|
1.02001e-05
|
|
|
HS
|
[NCBI]
|
1.02001e-05
|
|
|
galactosemia
|
[NCBI]
|
8.76247e-06
|
|
|
ALD
|
[NCBI]
|
7.69934e-06
|
|
|
CAT
|
[NCBI]
|
7.32952e-06
|
|
|
HP
|
[NCBI]
|
7.14516e-06
|
|
|
CFTR
|
[NCBI]
|
6.66869e-06
|
|
|
maple syrup urine disease
|
[NCBI]
|
6.48031e-06
|
|
|
PSACH
|
[NCBI]
|
5.15412e-06
|
|
|
SPINK1
|
[NCBI]
|
3.60695e-06
|
|
|
TH
|
[NCBI]
|
2.08202e-06
|
|
|
ZS
|
[NCBI]
|
1.32074e-06
|
|
|
DBA
|
[NCBI]
|
1.22761e-06
|
|
|
HD
|
[NCBI]
|
1.15885e-06
|
|
|
MFS
|
[NCBI]
|
8.78604e-07
|
|
|
HBB
|
[NCBI]
|
7.97636e-07
|
|
|
IP
|
[NCBI]
|
6.60209e-07
|
|
|
KSS
|
[NCBI]
|
2.7133e-07
|
|
|
DHFR
|
[NCBI]
|
1.5984e-07
|
|
|
ADA
|
[NCBI]
|
1.05312e-08
|
|