|
OMIM |
Link |
Information gain |
01 |
|
d-glyceric acidemia
|
[NCBI]
|
0.00177835
|
|
|
CSID
|
[NCBI]
|
0.0015274
|
|
|
CDG1A
|
[NCBI]
|
0.00122937
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
0.00122833
|
|
|
tricarboxylic acid cycle, defect of
|
[NCBI]
|
0.00119841
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
0.000987787
|
|
|
pentosuria
|
[NCBI]
|
0.000844965
|
|
|
infantile sialic acid storage disorder
|
[NCBI]
|
0.000732706
|
|
|
stiff skin syndrome
|
[NCBI]
|
0.000687918
|
|
|
fucosidosis
|
[NCBI]
|
0.000532464
|
|
|
neuraminidase deficiency
|
[NCBI]
|
0.000379477
|
|
|
galactokinase deficiency
|
[NCBI]
|
0.000342537
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
0.000342537
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
0.000320135
|
|
|
CDG2A
|
[NCBI]
|
0.00030703
|
|
|
mannosidosis, beta a, lysosomal
|
[NCBI]
|
0.000261613
|
|
|
mucopolysaccharidosis type iiia
|
[NCBI]
|
0.000221676
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
0.000208371
|
|
|
CDG2H
|
[NCBI]
|
0.000203358
|
|
|
CDG1H
|
[NCBI]
|
0.000203358
|
|
|
fructose-1,6-bisphosphatase deficiency
|
[NCBI]
|
0.000196066
|
|
|
sialuria
|
[NCBI]
|
0.000191644
|
|
|
PMM2
|
[NCBI]
|
0.000181566
|
|
|
mucopolysaccharidoses, unclassified types
|
[NCBI]
|
0.000172434
|
|
|
SI
|
[NCBI]
|
0.000163807
|
|
|
mucopolysaccharidosis type iiib
|
[NCBI]
|
0.000161418
|
|
|
CDG1G
|
[NCBI]
|
0.000158474
|
|
|
MAN2B1
|
[NCBI]
|
0.000150846
|
|
|
sialuria, finnish type
|
[NCBI]
|
0.000149615
|
|
|
CDG1D
|
[NCBI]
|
0.0001489
|
|
|
SLC17A5
|
[NCBI]
|
0.00014563
|
|
|
alg8, s. cerevisiae, homolog of
|
[NCBI]
|
0.000145143
|
|
|
COG8
|
[NCBI]
|
0.000145143
|
|
|
SLC2A1
|
[NCBI]
|
0.000139209
|
|
|
congenital disorder of glycosylation, type i/iix
|
[NCBI]
|
0.000135622
|
|
|
glycogen storage disease 0, liver
|
[NCBI]
|
0.000135622
|
|
|
nephrosialidosis
|
[NCBI]
|
0.000135622
|
|
|
CDG1C
|
[NCBI]
|
0.000130615
|
|
|
ALG12
|
[NCBI]
|
0.000117595
|
|
|
ALG3
|
[NCBI]
|
0.000111712
|
|
|
fructosuria
|
[NCBI]
|
0.000111712
|
|
|
CF
|
[NCBI]
|
0.000110335
|
|
|
cutis laxa, autosomal recessive, type ii
|
[NCBI]
|
0.000106062
|
|
|
galactose epimerase deficiency
|
[NCBI]
|
0.000103997
|
|
|
scheie syndrome
|
[NCBI]
|
0.00010206
|
|
|
CDG2E
|
[NCBI]
|
0.000101631
|
|
|
lactic aciduria due to d-lactic acid
|
[NCBI]
|
0.000101631
|
|
|
CDG2B
|
[NCBI]
|
0.000101631
|
|
|
CDG1I
|
[NCBI]
|
0.000101631
|
|
|
CDG1J
|
[NCBI]
|
0.000101631
|
|
|
CDG2G
|
[NCBI]
|
0.000101631
|
|
|
FBS
|
[NCBI]
|
9.85107e-05
|
|
|
APOH
|
[NCBI]
|
9.33566e-05
|
|
|
hyperglycerolemia
|
[NCBI]
|
8.7354e-05
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
8.19959e-05
|
|
|
TPI1
|
[NCBI]
|
8.17007e-05
|
|
|
MSD
|
[NCBI]
|
8.10283e-05
|
|
|
erythrocyte lactate transporter defect
|
[NCBI]
|
7.9189e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
7.27493e-05
|
|
|
COG7
|
[NCBI]
|
7.25207e-05
|
|
|
COG1
|
[NCBI]
|
7.25207e-05
|
|
|
GLYCTK
|
[NCBI]
|
7.25207e-05
|
|
|
GCS1
|
[NCBI]
|
7.25207e-05
|
|
|
FUCA2
|
[NCBI]
|
7.25207e-05
|
|
|
alg2, s. cerevisiae, homolog of
|
[NCBI]
|
7.25207e-05
|
|
|
DPAGT1
|
[NCBI]
|
7.25207e-05
|
|
|
deoxyribose-5-phosphate aldolase deficiency
|
[NCBI]
|
7.07375e-05
|
|
|
alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus
|
[NCBI]
|
7.07375e-05
|
|
|
SLC2A2
|
[NCBI]
|
6.8032e-05
|
|
|
HHF4
|
[NCBI]
|
6.52598e-05
|
|
|
CDG1K
|
[NCBI]
|
6.52598e-05
|
|
|
mucolipidosis ii
|
[NCBI]
|
6.51338e-05
|
|
|
hurler syndrome
|
[NCBI]
|
6.00218e-05
|
|
|
B4GALT1
|
[NCBI]
|
5.87467e-05
|
|
|
SMC
|
[NCBI]
|
5.7961e-05
|
|
|
fumarase deficiency
|
[NCBI]
|
5.7961e-05
|
|
|
ATP6V0A2
|
[NCBI]
|
5.3552e-05
|
|
|
ALG1
|
[NCBI]
|
5.3552e-05
|
|
|
lactic acidosis, fatal infantile
|
[NCBI]
|
5.29841e-05
|
|
|
mitochondrial myopathy
|
[NCBI]
|
5.29841e-05
|
|
|
winchester syndrome
|
[NCBI]
|
5.09831e-05
|
|
|
ETFB
|
[NCBI]
|
5.01808e-05
|
|
|
ETFA
|
[NCBI]
|
5.01808e-05
|
|
|
GYS2
|
[NCBI]
|
5.01808e-05
|
|
|
GGM
|
[NCBI]
|
4.92088e-05
|
|
|
HADH
|
[NCBI]
|
4.56809e-05
|
|
|
ETFDH
|
[NCBI]
|
4.56809e-05
|
|
|
fibromatosis, juvenile hyaline
|
[NCBI]
|
4.48488e-05
|
|
|
phosphoglycerate mutase, muscle, deficiency of
|
[NCBI]
|
4.40231e-05
|
|
|
fabry disease
|
[NCBI]
|
4.23037e-05
|
|
|
CDGG1
|
[NCBI]
|
4.14521e-05
|
|
|
DMC
|
[NCBI]
|
4.04689e-05
|
|
|
MCDC1
|
[NCBI]
|
4.04689e-05
|
|
|
GALK1
|
[NCBI]
|
4.02656e-05
|
|
|
holocarboxylase synthetase deficiency
|
[NCBI]
|
3.8675e-05
|
|
|
NEU1
|
[NCBI]
|
3.75557e-05
|
|
|
ABCB4
|
[NCBI]
|
3.75557e-05
|
|
|
GPI
|
[NCBI]
|
3.75162e-05
|
|
|
cutis laxa, autosomal recessive, type i
|
[NCBI]
|
3.70718e-05
|
|
|
mucolipidosis iiia
|
[NCBI]
|
3.63302e-05
|
|
|
lipoid proteinosis of urbach and wiethe
|
[NCBI]
|
3.43044e-05
|
|
|
SLC16A1
|
[NCBI]
|
3.42432e-05
|
|
|
udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine kinase
|
[NCBI]
|
3.36974e-05
|
|
|
alkaptonuria
|
[NCBI]
|
3.19751e-05
|
|
|
lactase persistence
|
[NCBI]
|
3.04444e-05
|
|
|
MADD
|
[NCBI]
|
3.04444e-05
|
|
|
mucolipidosis iv
|
[NCBI]
|
3.04444e-05
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
2.99684e-05
|
|
|
glycogen storage disease vii
|
[NCBI]
|
2.95078e-05
|
|
|
PFIC1
|
[NCBI]
|
2.90615e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
2.88073e-05
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
2.78017e-05
|
|
|
sandhoff disease
|
[NCBI]
|
2.55795e-05
|
|
|
FH
|
[NCBI]
|
2.49317e-05
|
|
|
TF
|
[NCBI]
|
2.3603e-05
|
|
|
galactosemia
|
[NCBI]
|
2.28067e-05
|
|
|
costello syndrome
|
[NCBI]
|
2.25315e-05
|
|
|
glycogen storage disease i
|
[NCBI]
|
2.25207e-05
|
|
|
IDUA
|
[NCBI]
|
2.08818e-05
|
|
|
GUSB
|
[NCBI]
|
1.82957e-05
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
1.70625e-05
|
|
|
CGD
|
[NCBI]
|
1.63992e-05
|
|
|
glycogen storage disease ii
|
[NCBI]
|
1.49967e-05
|
|
|
LS
|
[NCBI]
|
1.48512e-05
|
|
|
MBL2
|
[NCBI]
|
9.72551e-06
|
|
|
PI
|
[NCBI]
|
8.8759e-06
|
|
|
PPARA
|
[NCBI]
|
3.45663e-06
|
|
|
HBB
|
[NCBI]
|
2.93181e-06
|
|
|
PWS
|
[NCBI]
|
5.9705e-07
|
|
|
CD
|
[NCBI]
|
5.28031e-07
|
|
|
ALD
|
[NCBI]
|
3.42371e-07
|
|