|
OMIM |
Link |
Information
gain |
01 |
|
|
schimmelpenning-feuerstein-mims syndrome
|
[NCBI]
|
0.00124472
|
|
|
|
OPA2
|
[NCBI]
|
0.000765046
|
|
|
|
NYS2
|
[NCBI]
|
0.000640751
|
|
|
|
SPG15
|
[NCBI]
|
0.000640751
|
|
|
|
CMDR
|
[NCBI]
|
0.000614596
|
|
|
|
SPG5A
|
[NCBI]
|
0.000572697
|
|
|
|
amyotrophy, monomelic
|
[NCBI]
|
0.000555363
|
|
|
|
AIC
|
[NCBI]
|
0.00039693
|
|
|
|
DWS
|
[NCBI]
|
0.000332646
|
|
|
|
behcet syndrome
|
[NCBI]
|
0.000302645
|
|
|
|
hypotension, orthostatic
|
[NCBI]
|
0.000280586
|
|
|
|
ABL
|
[NCBI]
|
0.000164712
|
|
|
|
gm1-gangliosidosis, type ii
|
[NCBI]
|
0.000145452
|
|
|
|
FHM1
|
[NCBI]
|
0.000117434
|
|
|
|
RA
|
[NCBI]
|
0.000106529
|
|
|
|
piebald trait with neurologic defects
|
[NCBI]
|
9.65978e-05
|
|
|
|
maple syrup urine disease
|
[NCBI]
|
9.42642e-05
|
|
|
|
TTR
|
[NCBI]
|
9.05746e-05
|
|
|
|
craniotelencephalic dysplasia
|
[NCBI]
|
8.8126e-05
|
|
|
|
alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus
|
[NCBI]
|
8.8126e-05
|
|
|
|
MRX59
|
[NCBI]
|
7.85425e-05
|
|
|
|
roussy-levy hereditary areflexic dystasia
|
[NCBI]
|
7.85425e-05
|
|
|
|
HPA-2
|
[NCBI]
|
7.77884e-05
|
|
|
|
lactic acidosis, fatal infantile
|
[NCBI]
|
7.02714e-05
|
|
|
|
AP1S2
|
[NCBI]
|
6.9211e-05
|
|
|
|
SMAX1
|
[NCBI]
|
6.85749e-05
|
|
|
|
lipase, congenital absence of pancreatic
|
[NCBI]
|
6.67002e-05
|
|
|
|
scapuloperoneal syndrome, neurogenic, kaeser type
|
[NCBI]
|
6.64556e-05
|
|
|
|
HES
|
[NCBI]
|
6.64556e-05
|
|
|
|
de sanctis-cacchione syndrome
|
[NCBI]
|
6.48423e-05
|
|
|
|
gaucher disease, perinatal lethal
|
[NCBI]
|
6.48423e-05
|
|
|
|
sialuria
|
[NCBI]
|
6.20348e-05
|
|
|
|
3-@methylcrotonyl-coa carboxylase 1 deficiency
|
[NCBI]
|
6.20348e-05
|
|
|
|
GALK1
|
[NCBI]
|
5.92612e-05
|
|
|
|
CHS
|
[NCBI]
|
5.87109e-05
|
|
|
|
enchondromatosis, multiple
|
[NCBI]
|
5.7574e-05
|
|
|
|
galactokinase deficiency
|
[NCBI]
|
5.7574e-05
|
|
|
|
SOST
|
[NCBI]
|
5.48964e-05
|
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
5.40959e-05
|
|
|
|
SLSN1
|
[NCBI]
|
5.26074e-05
|
|
|
|
crigler-najjar syndrome
|
[NCBI]
|
5.12475e-05
|
|
|
|
infantile sialic acid storage disorder
|
[NCBI]
|
4.9996e-05
|
|
|
|
biotinidase deficiency
|
[NCBI]
|
4.94059e-05
|
|
|
|
OCRL
|
[NCBI]
|
4.62686e-05
|
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
4.56347e-05
|
|
|
|
coproporphyria
|
[NCBI]
|
4.5374e-05
|
|
|
|
usher syndrome, type i
|
[NCBI]
|
4.53493e-05
|
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
4.43952e-05
|
|
|
|
SPG3A
|
[NCBI]
|
4.366e-05
|
|
|
|
neuraminidase deficiency
|
[NCBI]
|
3.91828e-05
|
|
|
|
sotos syndrome
|
[NCBI]
|
3.83131e-05
|
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
3.72265e-05
|
|
|
|
porphyria, acute intermittent
|
[NCBI]
|
3.69667e-05
|
|
|
|
NPC1
|
[NCBI]
|
3.37378e-05
|
|
|
|
TS
|
[NCBI]
|
3.04955e-05
|
|
|
|
wilson disease
|
[NCBI]
|
2.77215e-05
|
|
|
|
fabry disease
|
[NCBI]
|
2.66716e-05
|
|
|
|
NF1
|
[NCBI]
|
2.44289e-05
|
|
|
|
DMD
|
[NCBI]
|
2.0104e-05
|
|
|
|
leber optic atrophy
|
[NCBI]
|
2.0104e-05
|
|
|
|
APOB
|
[NCBI]
|
1.91856e-05
|
|
|
|
HD
|
[NCBI]
|
1.78018e-05
|
|
|
|
PXE
|
[NCBI]
|
1.71116e-05
|
|
|
|
G6PD
|
[NCBI]
|
1.39258e-05
|
|
|
|
PTH
|
[NCBI]
|
3.29613e-06
|
|
|
|
CJD
|
[NCBI]
|
7.97102e-07
|
|
|
|
SLE
|
[NCBI]
|
8.53768e-10
|
|
