|
OMIM |
Link |
Information
gain |
01 |
|
|
hurler syndrome
|
[NCBI]
|
0.00519212
|
|
|
|
IDUA
|
[NCBI]
|
0.00469475
|
|
|
|
hurler-scheie syndrome
|
[NCBI]
|
0.00161076
|
|
|
|
scheie syndrome
|
[NCBI]
|
0.001179
|
|
|
|
xm system
|
[NCBI]
|
0.00107364
|
|
|
|
geleophysic dysplasia
|
[NCBI]
|
0.00078076
|
|
|
|
ehlers-danlos syndrome, type vib
|
[NCBI]
|
0.000765046
|
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
0.000377788
|
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
0.000254526
|
|
|
|
mucolipidosis iiia
|
[NCBI]
|
0.000196698
|
|
|
|
RA
|
[NCBI]
|
0.00017798
|
|
|
|
mucolipidosis ii
|
[NCBI]
|
0.000149624
|
|
|
|
LGMD2A
|
[NCBI]
|
9.98575e-05
|
|
|
|
CAPN3
|
[NCBI]
|
7.78246e-05
|
|
|
|
nephrosialidosis
|
[NCBI]
|
6.6184e-05
|
|
|
|
KSS
|
[NCBI]
|
5.49328e-05
|
|
|
|
ehlers-danlos syndrome, type vi
|
[NCBI]
|
4.49386e-05
|
|
|
|
mucopolysaccharidosis type iiia
|
[NCBI]
|
4.31123e-05
|
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
4.00057e-05
|
|
|
|
NAGLU
|
[NCBI]
|
3.88461e-05
|
|
|
|
neuraminidase deficiency
|
[NCBI]
|
3.30169e-05
|
|
|
|
GLB1
|
[NCBI]
|
3.06165e-05
|
|
|
|
CYP17A1
|
[NCBI]
|
3.03292e-05
|
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
2.74837e-05
|
|
|
|
mucopolysaccharidosis type iva
|
[NCBI]
|
2.62466e-05
|
|
|
|
krabbe disease
|
[NCBI]
|
2.03669e-05
|
|
|
|
CMH
|
[NCBI]
|
1.73724e-05
|
|
|
|
AD
|
[NCBI]
|
7.78472e-06
|
|
|
|
DHFR
|
[NCBI]
|
6.13753e-06
|
|
|
|
PCNA
|
[NCBI]
|
5.38399e-07
|
|
