|
OMIM |
Link |
Information
gain |
01 |
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
0.00132719
|
|
|
|
dermochondrocorneal dystrophy
|
[NCBI]
|
0.00119841
|
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
0.0011283
|
|
|
|
mucopolysaccharidosis type iiia
|
[NCBI]
|
0.00107192
|
|
|
|
hurler syndrome
|
[NCBI]
|
0.000855346
|
|
|
|
mucopolysaccharidosis type iiib
|
[NCBI]
|
0.000707287
|
|
|
|
mucopolysaccharidosis type iiic
|
[NCBI]
|
0.000694882
|
|
|
|
hurler-scheie syndrome
|
[NCBI]
|
0.000659394
|
|
|
|
scheie syndrome
|
[NCBI]
|
0.000649508
|
|
|
|
GUSB
|
[NCBI]
|
0.000536504
|
|
|
|
DMC
|
[NCBI]
|
0.000363454
|
|
|
|
mucopolysaccharidosis type iiid
|
[NCBI]
|
0.000323738
|
|
|
|
mucopolysaccharidosis type viii
|
[NCBI]
|
0.000317696
|
|
|
|
IDUA
|
[NCBI]
|
0.000183796
|
|
|
|
mucopolysaccharidoses, unclassified types
|
[NCBI]
|
0.000180741
|
|
|
|
ARSB
|
[NCBI]
|
0.00016043
|
|
|
|
fucosidosis
|
[NCBI]
|
0.000152661
|
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
0.000149707
|
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
0.000143494
|
|
|
|
mucopolysaccharidosis type iva
|
[NCBI]
|
0.000137074
|
|
|
|
winchester syndrome
|
[NCBI]
|
0.000134555
|
|
|
|
neuraminidase deficiency
|
[NCBI]
|
0.000131979
|
|
|
|
kniest dysplasia
|
[NCBI]
|
0.000116496
|
|
|
|
MCDC1
|
[NCBI]
|
0.000112207
|
|
|
|
CF
|
[NCBI]
|
0.000103942
|
|
|
|
mucolipidosis iiia
|
[NCBI]
|
0.000103499
|
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
9.00948e-05
|
|
|
|
MSD
|
[NCBI]
|
8.91203e-05
|
|
|
|
hyaluronidase deficiency
|
[NCBI]
|
8.33249e-05
|
|
|
|
skeletal dysplasia with telangiectases and mesodermal dysgenesis of the iris
|
[NCBI]
|
8.33249e-05
|
|
|
|
HYAL3
|
[NCBI]
|
6.9765e-05
|
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
6.9179e-05
|
|
|
|
corneal fleck dystrophy
|
[NCBI]
|
6.53095e-05
|
|
|
|
GNS
|
[NCBI]
|
6.45657e-05
|
|
|
|
PIP5K3
|
[NCBI]
|
6.45657e-05
|
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
6.34873e-05
|
|
|
|
HGSNAT
|
[NCBI]
|
6.11901e-05
|
|
|
|
HYAL1
|
[NCBI]
|
6.11901e-05
|
|
|
|
SGSH
|
[NCBI]
|
4.7761e-05
|
|
|
|
FY
|
[NCBI]
|
4.22712e-05
|
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
3.96944e-05
|
|
|
|
MRXHF1
|
[NCBI]
|
3.76559e-05
|
|
|
|
mucolipidosis iv
|
[NCBI]
|
3.43723e-05
|
|
|
|
sandhoff disease
|
[NCBI]
|
2.94241e-05
|
|
|
|
mucolipidosis ii
|
[NCBI]
|
2.57592e-05
|
|
|
|
NPC1
|
[NCBI]
|
2.1437e-05
|
|
|
|
AD
|
[NCBI]
|
2.07617e-05
|
|
|
|
TD1
|
[NCBI]
|
2.06841e-05
|
|
|
|
ALD
|
[NCBI]
|
1.55018e-05
|
|
|
|
FRDA
|
[NCBI]
|
1.51857e-05
|
|
|
|
fabry disease
|
[NCBI]
|
1.49572e-05
|
|
|
|
TSD
|
[NCBI]
|
8.84867e-06
|
|
|
|
MFS
|
[NCBI]
|
5.91641e-06
|
|
