|
OMIM |
Link |
Information gain |
01 |
|
carnosinemia
|
[NCBI]
|
0.00098052
|
|
|
visceral neuropathy, familial, autosomal recessive
|
[NCBI]
|
0.000880362
|
|
|
megaduodenum and/or megacystis
|
[NCBI]
|
0.000776146
|
|
|
carnitine palmitoyltransferase ii deficiency, lethal neonatal
|
[NCBI]
|
0.000177005
|
|
|
molybdenum cofactor deficiency
|
[NCBI]
|
0.000152266
|
|
|
GAMT
|
[NCBI]
|
0.000150828
|
|
|
carnitine palmitoyltransferase ii deficiency, late-onset
|
[NCBI]
|
0.00013845
|
|
|
AEZ
|
[NCBI]
|
0.00013576
|
|
|
bile acid, synthetic defect of
|
[NCBI]
|
0.000124742
|
|
|
glycogen storage disease ii
|
[NCBI]
|
9.43332e-05
|
|
|
zinc in breast milk, reduced
|
[NCBI]
|
9.38016e-05
|
|
|
CP
|
[NCBI]
|
9.18433e-05
|
|
|
peroxidase and phospholipid deficiency in eosinophils
|
[NCBI]
|
8.42118e-05
|
|
|
methemoglobinemia due to deficiency of methemoglobin reductase
|
[NCBI]
|
8.20354e-05
|
|
|
mevalonic aciduria
|
[NCBI]
|
8.0955e-05
|
|
|
n-acetylglutamate synthase deficiency
|
[NCBI]
|
7.82479e-05
|
|
|
sulfocysteinuria
|
[NCBI]
|
7.82479e-05
|
|
|
myeloperoxidase deficiency
|
[NCBI]
|
7.39071e-05
|
|
|
thyrotropin deficiency, isolated
|
[NCBI]
|
6.90246e-05
|
|
|
GCCD1
|
[NCBI]
|
6.90246e-05
|
|
|
3-@methylcrotonyl-coa carboxylase 1 deficiency
|
[NCBI]
|
6.76794e-05
|
|
|
HOMG
|
[NCBI]
|
6.76794e-05
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
6.64385e-05
|
|
|
aceruloplasminemia
|
[NCBI]
|
6.42127e-05
|
|
|
diphosphoglycerate mutase deficiency of erythrocyte
|
[NCBI]
|
6.39723e-05
|
|
|
SLC30A4
|
[NCBI]
|
6.05968e-05
|
|
|
adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
|
[NCBI]
|
6.05193e-05
|
|
|
argininemia
|
[NCBI]
|
5.82209e-05
|
|
|
acyl-coa dehydrogenase, medium-chain, deficiency of
|
[NCBI]
|
5.75232e-05
|
|
|
cutis laxa, x-linked
|
[NCBI]
|
5.68548e-05
|
|
|
histidinemia
|
[NCBI]
|
5.55972e-05
|
|
|
RIEG1
|
[NCBI]
|
5.5004e-05
|
|
|
SLC39A4
|
[NCBI]
|
5.44259e-05
|
|
|
MLYCD
|
[NCBI]
|
5.44259e-05
|
|
|
homocysteinemia
|
[NCBI]
|
5.38804e-05
|
|
|
CES1
|
[NCBI]
|
5.30032e-05
|
|
|
MTHFD1
|
[NCBI]
|
5.30032e-05
|
|
|
TGD
|
[NCBI]
|
5.13785e-05
|
|
|
HEPH
|
[NCBI]
|
4.87592e-05
|
|
|
galactosemia
|
[NCBI]
|
4.47034e-05
|
|
|
GNMT
|
[NCBI]
|
4.45978e-05
|
|
|
MVK
|
[NCBI]
|
4.30315e-05
|
|
|
HAE
|
[NCBI]
|
4.27254e-05
|
|
|
AK1
|
[NCBI]
|
4.25603e-05
|
|
|
LNS
|
[NCBI]
|
4.09734e-05
|
|
|
PITX2
|
[NCBI]
|
4.08732e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
3.98346e-05
|
|
|
ALS1
|
[NCBI]
|
3.77855e-05
|
|
|
ATP7A
|
[NCBI]
|
3.70671e-05
|
|
|
menkes disease
|
[NCBI]
|
3.68567e-05
|
|
|
SDS
|
[NCBI]
|
3.61531e-05
|
|
|
AMACR
|
[NCBI]
|
3.45356e-05
|
|
|
CD
|
[NCBI]
|
3.36968e-05
|
|
|
wilson disease
|
[NCBI]
|
3.30623e-05
|
|
|
ACADM
|
[NCBI]
|
2.865e-05
|
|
|
PLTP
|
[NCBI]
|
2.73178e-05
|
|
|
HPRT1
|
[NCBI]
|
2.71285e-05
|
|
|
DNMT1
|
[NCBI]
|
2.68515e-05
|
|
|
TG
|
[NCBI]
|
2.42321e-05
|
|
|
LCAT
|
[NCBI]
|
1.93841e-05
|
|
|
PI
|
[NCBI]
|
1.81417e-05
|
|
|
XDH
|
[NCBI]
|
1.41923e-05
|
|
|
SPP1
|
[NCBI]
|
1.06148e-05
|
|
|
ADA
|
[NCBI]
|
8.31167e-06
|
|
|
NPPA
|
[NCBI]
|
7.72505e-06
|
|
|
G6PD
|
[NCBI]
|
6.68094e-06
|
|
|
BDNF
|
[NCBI]
|
5.69994e-06
|
|
|
EPO
|
[NCBI]
|
1.5409e-06
|
|
|
MPO
|
[NCBI]
|
1.53887e-06
|
|
|
AFP
|
[NCBI]
|
1.39758e-06
|
|
|
CF
|
[NCBI]
|
1.45045e-08
|
|