|
OMIM |
Link |
Information gain |
01 |
|
amyotrophy, monomelic
|
[NCBI]
|
0.00189888
|
|
|
AXPC1
|
[NCBI]
|
0.00146205
|
|
|
syringomyelia, isolated
|
[NCBI]
|
0.00124061
|
|
|
spinal muscular atrophy, childhood, proximal, autosomal dominant
|
[NCBI]
|
0.00111337
|
|
|
spinal arachnoiditis
|
[NCBI]
|
0.000945056
|
|
|
neuropathy, congenital, with arthrogryposis multiplex
|
[NCBI]
|
0.000945056
|
|
|
ketoaciduria with mental deficiency and other features
|
[NCBI]
|
0.000727474
|
|
|
behr syndrome
|
[NCBI]
|
0.000645584
|
|
|
MPD2
|
[NCBI]
|
0.000592537
|
|
|
spinal muscular atrophy, facioscapulohumeral type
|
[NCBI]
|
0.000592537
|
|
|
amyotrophy, neurogenic scapuloperoneal, new england type
|
[NCBI]
|
0.000553188
|
|
|
lateral meningocele syndrome
|
[NCBI]
|
0.000553188
|
|
|
lethal congenital contracture syndrome 1
|
[NCBI]
|
0.000521908
|
|
|
HMN7A
|
[NCBI]
|
0.000495958
|
|
|
SCAX1
|
[NCBI]
|
0.000495958
|
|
|
chiari malformation type i
|
[NCBI]
|
0.00028809
|
|
|
ALD
|
[NCBI]
|
0.000266998
|
|
|
MBS
|
[NCBI]
|
0.0002526
|
|
|
spinal muscular atrophy, proximal, adult, autosomal dominant
|
[NCBI]
|
0.000245115
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000224582
|
|
|
MJD
|
[NCBI]
|
0.000218191
|
|
|
SMAX1
|
[NCBI]
|
0.00021308
|
|
|
SMA1
|
[NCBI]
|
0.000192994
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
0.000178544
|
|
|
MBP
|
[NCBI]
|
0.000168463
|
|
|
GFAP
|
[NCBI]
|
0.000144382
|
|
|
SCA2
|
[NCBI]
|
0.000132289
|
|
|
spinal muscular atrophy with mental retardation
|
[NCBI]
|
0.00011244
|
|
|
lipodystrophy with congenital cataracts and neurodegeneration
|
[NCBI]
|
0.00011244
|
|
|
spinal intradural arachnoid cysts
|
[NCBI]
|
0.00011244
|
|
|
spinocerebellar ataxia with dysmorphism
|
[NCBI]
|
0.00011244
|
|
|
spinocerebellar degeneration and corneal dystrophy
|
[NCBI]
|
0.00011244
|
|
|
GLUD1
|
[NCBI]
|
0.000107464
|
|
|
spinocerebellar ataxia, x-linked 3
|
[NCBI]
|
8.99832e-05
|
|
|
spinal muscular atrophy, scapuloperoneal
|
[NCBI]
|
8.99832e-05
|
|
|
spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia
|
[NCBI]
|
8.99832e-05
|
|
|
LBSL
|
[NCBI]
|
7.60241e-05
|
|
|
pyruvate dehydrogenase phosphatase deficiency
|
[NCBI]
|
7.19438e-05
|
|
|
LS
|
[NCBI]
|
6.99293e-05
|
|
|
SCA1
|
[NCBI]
|
6.76603e-05
|
|
|
gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
|
[NCBI]
|
6.59966e-05
|
|
|
SMA4
|
[NCBI]
|
5.82753e-05
|
|
|
PLSJ
|
[NCBI]
|
5.82753e-05
|
|
|
vitamin k-dependent clotting factors, combined deficiency of, 1
|
[NCBI]
|
5.42459e-05
|
|
|
HMN5
|
[NCBI]
|
5.42459e-05
|
|
|
ALS2
|
[NCBI]
|
5.31027e-05
|
|
|
DSMA1
|
[NCBI]
|
5.31027e-05
|
|
|
BMP7
|
[NCBI]
|
5.21757e-05
|
|
|
RA
|
[NCBI]
|
5.09756e-05
|
|
|
VED
|
[NCBI]
|
4.92149e-05
|
|
|
TSD
|
[NCBI]
|
4.76278e-05
|
|
|
CHS
|
[NCBI]
|
4.64285e-05
|
|
|
methylmalonic aciduria and homocystinuria, cblc type
|
[NCBI]
|
4.61038e-05
|
|
|
alsin
|
[NCBI]
|
4.56347e-05
|
|
|
DLD
|
[NCBI]
|
4.56347e-05
|
|
|
AAA
|
[NCBI]
|
4.54145e-05
|
|
|
SMA2
|
[NCBI]
|
4.41216e-05
|
|
|
donohue syndrome
|
[NCBI]
|
4.35136e-05
|
|
|
pheochromocytoma
|
[NCBI]
|
4.02988e-05
|
|
|
MFS
|
[NCBI]
|
3.98565e-05
|
|
|
MTND1
|
[NCBI]
|
3.93038e-05
|
|
|
SMA3
|
[NCBI]
|
3.89145e-05
|
|
|
SEDC
|
[NCBI]
|
3.84798e-05
|
|
|
BMP4
|
[NCBI]
|
3.79639e-05
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
3.72463e-05
|
|
|
ASPA
|
[NCBI]
|
3.65119e-05
|
|
|
HEXB
|
[NCBI]
|
3.62458e-05
|
|
|
sandhoff disease
|
[NCBI]
|
3.57453e-05
|
|
|
BIRC1
|
[NCBI]
|
3.35162e-05
|
|
|
mucopolysaccharidosis type iva
|
[NCBI]
|
3.29389e-05
|
|
|
CHAT
|
[NCBI]
|
3.17852e-05
|
|
|
SCA7
|
[NCBI]
|
3.17103e-05
|
|
|
ABCD1
|
[NCBI]
|
3.09229e-05
|
|
|
ABL
|
[NCBI]
|
3.06641e-05
|
|
|
glioma of brain, familial
|
[NCBI]
|
3.04141e-05
|
|
|
IS1
|
[NCBI]
|
2.95606e-05
|
|
|
AMC
|
[NCBI]
|
2.87764e-05
|
|
|
SMN1
|
[NCBI]
|
2.86405e-05
|
|
|
CDLS1
|
[NCBI]
|
2.09206e-05
|
|
|
FRDA
|
[NCBI]
|
2.09206e-05
|
|
|
NF1
|
[NCBI]
|
1.54943e-05
|
|
|
CNTF
|
[NCBI]
|
1.53005e-05
|
|
|
DMD
|
[NCBI]
|
1.44632e-05
|
|
|
leber optic atrophy
|
[NCBI]
|
1.44632e-05
|
|
|
APOB
|
[NCBI]
|
1.06288e-05
|
|
|
AT
|
[NCBI]
|
7.41319e-06
|
|
|
BDNF
|
[NCBI]
|
5.10626e-06
|
|
|
ACHE
|
[NCBI]
|
4.28199e-06
|
|
|
VEGF
|
[NCBI]
|
3.23545e-06
|
|
|
HGF
|
[NCBI]
|
3.19588e-06
|
|
|
NPY
|
[NCBI]
|
3.06782e-06
|
|
|
AVP
|
[NCBI]
|
2.41524e-06
|
|
|
SLE
|
[NCBI]
|
1.96538e-06
|
|
|
TNF
|
[NCBI]
|
1.2351e-07
|
|
|
CJD
|
[NCBI]
|
5.01642e-08
|
|