|
OMIM |
Link |
Information gain |
01 |
|
CLN4B
|
[NCBI]
|
0.00361035
|
|
|
CLN4A
|
[NCBI]
|
0.00241231
|
|
|
gangliosidosis, gm2, type iii, or juvenile type
|
[NCBI]
|
0.00170998
|
|
|
TSD
|
[NCBI]
|
0.00132671
|
|
|
lipoid proteinosis of urbach and wiethe
|
[NCBI]
|
0.00121478
|
|
|
CLN3
|
[NCBI]
|
0.00109451
|
|
|
sandhoff disease
|
[NCBI]
|
0.000770153
|
|
|
cerebellar hypoplasia
|
[NCBI]
|
0.000765046
|
|
|
dermochondrocorneal dystrophy
|
[NCBI]
|
0.000672238
|
|
|
wolman disease
|
[NCBI]
|
0.00048549
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
0.000386791
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
0.000383505
|
|
|
gm1-gangliosidosis, type ii
|
[NCBI]
|
0.000382416
|
|
|
CLN2
|
[NCBI]
|
0.000339374
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
0.000253664
|
|
|
CLN1
|
[NCBI]
|
0.000243407
|
|
|
NPC1
|
[NCBI]
|
0.000233948
|
|
|
neuraminidase deficiency
|
[NCBI]
|
0.000195097
|
|
|
HEXC
|
[NCBI]
|
0.000170777
|
|
|
niemann-pick disease, type b
|
[NCBI]
|
0.000169508
|
|
|
mucolipidosis ii
|
[NCBI]
|
0.000129295
|
|
|
HEXA
|
[NCBI]
|
0.000128214
|
|
|
sea-blue histiocyte disease
|
[NCBI]
|
0.000127337
|
|
|
CDS
|
[NCBI]
|
0.000116496
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
0.000114557
|
|
|
cephalin lipidosis
|
[NCBI]
|
0.000105774
|
|
|
NLSDM
|
[NCBI]
|
0.000105774
|
|
|
wolman disease with hypolipoproteinemia and acanthocytosis
|
[NCBI]
|
0.000105774
|
|
|
fabry disease
|
[NCBI]
|
9.3401e-05
|
|
|
HEXB
|
[NCBI]
|
9.29525e-05
|
|
|
CDSP
|
[NCBI]
|
8.91203e-05
|
|
|
MSD
|
[NCBI]
|
8.91203e-05
|
|
|
CLN10
|
[NCBI]
|
6.93818e-05
|
|
|
niemann-pick disease, type c2
|
[NCBI]
|
5.93784e-05
|
|
|
PNPLA2
|
[NCBI]
|
5.19115e-05
|
|
|
CLN5
|
[NCBI]
|
5.02372e-05
|
|
|
SLC25A20
|
[NCBI]
|
4.74273e-05
|
|
|
tay-sachs disease, ab variant
|
[NCBI]
|
4.68441e-05
|
|
|
SLC22A5
|
[NCBI]
|
4.62934e-05
|
|
|
lipoid congenital adrenal hyperplasia
|
[NCBI]
|
4.54909e-05
|
|
|
sitosterolemia
|
[NCBI]
|
4.54909e-05
|
|
|
hyperlipoproteinemia, type ii
|
[NCBI]
|
4.45008e-05
|
|
|
ABCA1
|
[NCBI]
|
4.13449e-05
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
4.1076e-05
|
|
|
fucosidosis
|
[NCBI]
|
4.1026e-05
|
|
|
canavan disease
|
[NCBI]
|
3.82808e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
3.80688e-05
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
3.48716e-05
|
|
|
HFTC
|
[NCBI]
|
3.48716e-05
|
|
|
mucolipidosis iv
|
[NCBI]
|
3.43723e-05
|
|
|
TGD
|
[NCBI]
|
3.29686e-05
|
|
|
CADASIL
|
[NCBI]
|
3.1688e-05
|
|
|
STAR
|
[NCBI]
|
3.16684e-05
|
|
|
HSAN3
|
[NCBI]
|
2.80929e-05
|
|
|
hurler syndrome
|
[NCBI]
|
2.33107e-05
|
|
|
porphyria variegata
|
[NCBI]
|
2.12446e-05
|
|
|
gaucher disease, type i
|
[NCBI]
|
2.06841e-05
|
|
|
CGD
|
[NCBI]
|
1.99733e-05
|
|
|
krabbe disease
|
[NCBI]
|
1.45139e-05
|
|
|
PMD
|
[NCBI]
|
1.34792e-05
|
|
|
TTR
|
[NCBI]
|
1.30769e-05
|
|
|
HD
|
[NCBI]
|
1.20217e-05
|
|
|
ALD
|
[NCBI]
|
1.53149e-06
|
|