|
OMIM |
Link |
Information gain |
01 |
|
spinal muscular atrophy, childhood, proximal, autosomal dominant
|
[NCBI]
|
0.00485882
|
|
|
amyotrophy, monomelic
|
[NCBI]
|
0.00305207
|
|
|
CMT1B
|
[NCBI]
|
0.00231568
|
|
|
hereditary motor and sensory neuropathy v
|
[NCBI]
|
0.00172453
|
|
|
LGMD2L
|
[NCBI]
|
0.00164535
|
|
|
wieacker syndrome
|
[NCBI]
|
0.00134595
|
|
|
SMAX1
|
[NCBI]
|
0.00130412
|
|
|
WDM
|
[NCBI]
|
0.00130245
|
|
|
spinal muscular atrophy, facioscapulohumeral type
|
[NCBI]
|
0.00121108
|
|
|
charcot-marie-tooth disease, dominant intermediate a
|
[NCBI]
|
0.00121108
|
|
|
MEAX
|
[NCBI]
|
0.000991039
|
|
|
HMN7A
|
[NCBI]
|
0.000991039
|
|
|
HMN1
|
[NCBI]
|
0.000991039
|
|
|
SCA18
|
[NCBI]
|
0.000821081
|
|
|
muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
|
[NCBI]
|
0.000821081
|
|
|
arthrogryposis-like disorder
|
[NCBI]
|
0.000821081
|
|
|
neuropathy, congenital, with arthrogryposis multiplex
|
[NCBI]
|
0.000821081
|
|
|
SMA1
|
[NCBI]
|
0.000692742
|
|
|
SMA3
|
[NCBI]
|
0.000633002
|
|
|
CMT2G
|
[NCBI]
|
0.000603963
|
|
|
spinocerebellar ataxia with rigidity and peripheral neuropathy
|
[NCBI]
|
0.000603963
|
|
|
pontocerebellar hypoplasia, type 1
|
[NCBI]
|
0.000603963
|
|
|
ketoaciduria with mental deficiency and other features
|
[NCBI]
|
0.000603963
|
|
|
giant axonal neuropathy, autosomal dominant
|
[NCBI]
|
0.000603963
|
|
|
neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers
|
[NCBI]
|
0.000522538
|
|
|
RA
|
[NCBI]
|
0.00048186
|
|
|
CMTX1
|
[NCBI]
|
0.0004728
|
|
|
DSMA3
|
[NCBI]
|
0.000469955
|
|
|
MPD2
|
[NCBI]
|
0.000469955
|
|
|
bulbar palsy, progressive, with sensorineural deafness
|
[NCBI]
|
0.000431071
|
|
|
scheuermann disease
|
[NCBI]
|
0.000431071
|
|
|
SCA4
|
[NCBI]
|
0.000400255
|
|
|
lethal congenital contracture syndrome 1
|
[NCBI]
|
0.000400255
|
|
|
FBXO32
|
[NCBI]
|
0.000393674
|
|
|
spinal muscular atrophy, proximal, adult, autosomal dominant
|
[NCBI]
|
0.000387398
|
|
|
SLE
|
[NCBI]
|
0.000386126
|
|
|
inclusion body myositis
|
[NCBI]
|
0.000374771
|
|
|
SPG5A
|
[NCBI]
|
0.000334214
|
|
|
optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive
|
[NCBI]
|
0.000292256
|
|
|
ossified ear cartilages with mental deficiency, muscle wasting, and bony changes
|
[NCBI]
|
0.000292256
|
|
|
scapuloperoneal syndrome, neurogenic, kaeser type
|
[NCBI]
|
0.00028096
|
|
|
MTM1
|
[NCBI]
|
0.000278031
|
|
|
AMCN
|
[NCBI]
|
0.000265637
|
|
|
CTS1
|
[NCBI]
|
0.000228195
|
|
|
CMT1A
|
[NCBI]
|
0.000199196
|
|
|
SPG17
|
[NCBI]
|
0.000188087
|
|
|
HMN5
|
[NCBI]
|
0.000174773
|
|
|
tibial muscular dystrophy, tardive
|
[NCBI]
|
0.00016138
|
|
|
EDMD2
|
[NCBI]
|
0.000150958
|
|
|
HSAN1
|
[NCBI]
|
0.000148678
|
|
|
SMA2
|
[NCBI]
|
0.000142435
|
|
|
roussy-levy hereditary areflexic dystasia
|
[NCBI]
|
0.000140333
|
|
|
charcot-marie-tooth disease and deafness
|
[NCBI]
|
0.000133013
|
|
|
RNF28
|
[NCBI]
|
0.000130704
|
|
|
charcot-marie-tooth disease, dominant intermediate b
|
[NCBI]
|
0.000127074
|
|
|
myopathy, centronuclear, autosomal dominant
|
[NCBI]
|
0.000122075
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.00011876
|
|
|
HMN2A
|
[NCBI]
|
0.000113963
|
|
|
NEM3
|
[NCBI]
|
0.00011314
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
0.000111126
|
|
|
SMA4
|
[NCBI]
|
0.000110574
|
|
|
SCAR1
|
[NCBI]
|
0.000110574
|
|
|
spinal muscular atrophy with mental retardation
|
[NCBI]
|
9.73447e-05
|
|
|
spinal muscular atrophy, ryukyuan type
|
[NCBI]
|
9.73447e-05
|
|
|
myoclonus, hereditary, with progressive distal muscular atrophy
|
[NCBI]
|
9.73447e-05
|
|
|
neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance
|
[NCBI]
|
9.73447e-05
|
|
|
charcot-marie-tooth disease, guadalajara neuronal type
|
[NCBI]
|
9.73447e-05
|
|
|
facial dysmorphism with multiple malformations
|
[NCBI]
|
9.73447e-05
|
|
|
muscular atrophy, malignant neurogenic
|
[NCBI]
|
9.73447e-05
|
|
|
spinal muscular atrophy with microcephaly and mental subnormality
|
[NCBI]
|
9.73447e-05
|
|
|
tendons, extensor, of fingers, anomalous insertion of
|
[NCBI]
|
9.73447e-05
|
|
|
XMPMA
|
[NCBI]
|
9.73447e-05
|
|
|
nathalie syndrome
|
[NCBI]
|
9.73447e-05
|
|
|
myopathy, granulovacuolar lobular, with electrical myotonia
|
[NCBI]
|
9.73447e-05
|
|
|
neuropathy, painful
|
[NCBI]
|
9.73447e-05
|
|
|
MPZ
|
[NCBI]
|
9.47509e-05
|
|
|
IKBKB
|
[NCBI]
|
9.42581e-05
|
|
|
AMPD1
|
[NCBI]
|
8.98292e-05
|
|
|
HNA
|
[NCBI]
|
8.40432e-05
|
|
|
glycogen storage disease ii
|
[NCBI]
|
8.14745e-05
|
|
|
FRAP1
|
[NCBI]
|
8.01013e-05
|
|
|
NFKB1
|
[NCBI]
|
7.54697e-05
|
|
|
BDB2
|
[NCBI]
|
7.4912e-05
|
|
|
spinal muscular atrophy, scapuloperoneal
|
[NCBI]
|
7.4912e-05
|
|
|
DCTN2
|
[NCBI]
|
7.47769e-05
|
|
|
TGD
|
[NCBI]
|
7.18027e-05
|
|
|
RSMD1
|
[NCBI]
|
7.18027e-05
|
|
|
keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy
|
[NCBI]
|
6.64697e-05
|
|
|
SCA11
|
[NCBI]
|
6.64697e-05
|
|
|
TTR
|
[NCBI]
|
6.52662e-05
|
|
|
SPG20
|
[NCBI]
|
6.10013e-05
|
|
|
CMTX5
|
[NCBI]
|
6.10013e-05
|
|
|
SCA13
|
[NCBI]
|
6.10013e-05
|
|
|
angiolipomatosis, familial
|
[NCBI]
|
6.10013e-05
|
|
|
EDMD
|
[NCBI]
|
5.93307e-05
|
|
|
HNPP
|
[NCBI]
|
5.75966e-05
|
|
|
FCMD
|
[NCBI]
|
5.6497e-05
|
|
|
FHL1
|
[NCBI]
|
5.58054e-05
|
|
|
PMPCB
|
[NCBI]
|
5.58054e-05
|
|
|
ANKRD2
|
[NCBI]
|
5.58054e-05
|
|
|
muscle glycogenosis, x-linked
|
[NCBI]
|
5.37212e-05
|
|
|
creatine phosphokinase, elevated serum
|
[NCBI]
|
5.37212e-05
|
|
|
SPG20
|
[NCBI]
|
5.24329e-05
|
|
|
TNFSF12
|
[NCBI]
|
5.24329e-05
|
|
|
SCA5
|
[NCBI]
|
5.10467e-05
|
|
|
SPMM
|
[NCBI]
|
5.10467e-05
|
|
|
ALS4
|
[NCBI]
|
5.10467e-05
|
|
|
RB1CC1
|
[NCBI]
|
4.99265e-05
|
|
|
IBM3
|
[NCBI]
|
4.87629e-05
|
|
|
mitochondrial myopathy
|
[NCBI]
|
4.87629e-05
|
|
|
microcephaly with spastic quadriplegia
|
[NCBI]
|
4.87629e-05
|
|
|
NFKBIA
|
[NCBI]
|
4.79302e-05
|
|
|
BCL3
|
[NCBI]
|
4.79302e-05
|
|
|
SCA12
|
[NCBI]
|
4.67712e-05
|
|
|
PHKA1
|
[NCBI]
|
4.6271e-05
|
|
|
ALS1
|
[NCBI]
|
4.55242e-05
|
|
|
myopathy, myosin storage
|
[NCBI]
|
4.50063e-05
|
|
|
minicore myopathy with external ophthalmoplegia
|
[NCBI]
|
4.50063e-05
|
|
|
IGHMBP2
|
[NCBI]
|
4.36109e-05
|
|
|
SPTLC1
|
[NCBI]
|
4.36109e-05
|
|
|
CMT2A2
|
[NCBI]
|
4.34224e-05
|
|
|
SCA14
|
[NCBI]
|
4.34224e-05
|
|
|
PMP22
|
[NCBI]
|
4.27039e-05
|
|
|
SETX
|
[NCBI]
|
4.25094e-05
|
|
|
PPID
|
[NCBI]
|
4.25094e-05
|
|
|
DCTN1
|
[NCBI]
|
4.25094e-05
|
|
|
RPS6
|
[NCBI]
|
4.25094e-05
|
|
|
CMT4A
|
[NCBI]
|
4.19866e-05
|
|
|
LGMD2I
|
[NCBI]
|
4.06741e-05
|
|
|
CMT2A1
|
[NCBI]
|
4.06741e-05
|
|
|
SYNS1
|
[NCBI]
|
4.06741e-05
|
|
|
COL6A2
|
[NCBI]
|
4.06194e-05
|
|
|
ANKRD1
|
[NCBI]
|
4.06194e-05
|
|
|
NM
|
[NCBI]
|
3.94659e-05
|
|
|
CHRNA1
|
[NCBI]
|
3.90354e-05
|
|
|
DSMA1
|
[NCBI]
|
3.83469e-05
|
|
|
PPARGC1A
|
[NCBI]
|
3.833e-05
|
|
|
STAT3
|
[NCBI]
|
3.7419e-05
|
|
|
COFS1
|
[NCBI]
|
3.73054e-05
|
|
|
EA1
|
[NCBI]
|
3.73054e-05
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
3.63315e-05
|
|
|
SOD1
|
[NCBI]
|
3.56485e-05
|
|
|
SCCMS
|
[NCBI]
|
3.54173e-05
|
|
|
FMD
|
[NCBI]
|
3.54173e-05
|
|
|
sacral defect with anterior meningocele
|
[NCBI]
|
3.54173e-05
|
|
|
MSTN
|
[NCBI]
|
3.49189e-05
|
|
|
VED
|
[NCBI]
|
3.45562e-05
|
|
|
myotonia congenita, autosomal dominant
|
[NCBI]
|
3.29717e-05
|
|
|
bethlem myopathy
|
[NCBI]
|
3.29717e-05
|
|
|
SCA10
|
[NCBI]
|
3.29717e-05
|
|
|
ATXN8OS
|
[NCBI]
|
3.27757e-05
|
|
|
CAV3
|
[NCBI]
|
3.16859e-05
|
|
|
SCD
|
[NCBI]
|
3.16859e-05
|
|
|
IL3
|
[NCBI]
|
3.13484e-05
|
|
|
carnitine palmitoyltransferase ii deficiency, late-onset
|
[NCBI]
|
3.08772e-05
|
|
|
AAA
|
[NCBI]
|
3.08772e-05
|
|
|
REN
|
[NCBI]
|
3.0707e-05
|
|
|
GAN1
|
[NCBI]
|
3.02415e-05
|
|
|
cutis laxa, x-linked
|
[NCBI]
|
3.02415e-05
|
|
|
EA2
|
[NCBI]
|
3.02415e-05
|
|
|
refsum disease
|
[NCBI]
|
3.02415e-05
|
|
|
AQP4
|
[NCBI]
|
3.01057e-05
|
|
|
CNTF
|
[NCBI]
|
2.99144e-05
|
|
|
SLC18A3
|
[NCBI]
|
2.98186e-05
|
|
|
C3
|
[NCBI]
|
2.98186e-05
|
|
|
DES
|
[NCBI]
|
2.95399e-05
|
|
|
myopathy, myofibrillar, desmin-related
|
[NCBI]
|
2.90491e-05
|
|
|
ornithine aminotransferase deficiency
|
[NCBI]
|
2.87494e-05
|
|
|
AD
|
[NCBI]
|
2.87261e-05
|
|
|
RUNX1
|
[NCBI]
|
2.84999e-05
|
|
|
mitochondrial complex i deficiency
|
[NCBI]
|
2.84886e-05
|
|
|
andersen cardiodysrhythmic periodic paralysis
|
[NCBI]
|
2.79494e-05
|
|
|
FSHMD1A
|
[NCBI]
|
2.745e-05
|
|
|
AR
|
[NCBI]
|
2.66101e-05
|
|
|
PC
|
[NCBI]
|
2.5741e-05
|
|
|
CDSP
|
[NCBI]
|
2.55287e-05
|
|
|
glycogen storage disease v
|
[NCBI]
|
2.46685e-05
|
|
|
LGMD2A
|
[NCBI]
|
2.42581e-05
|
|
|
CHAC
|
[NCBI]
|
2.42581e-05
|
|
|
MEB
|
[NCBI]
|
2.38599e-05
|
|
|
RYR1
|
[NCBI]
|
2.36112e-05
|
|
|
SPG3A
|
[NCBI]
|
2.30975e-05
|
|
|
COH1
|
[NCBI]
|
2.20306e-05
|
|
|
TSD
|
[NCBI]
|
2.19624e-05
|
|
|
ACHE
|
[NCBI]
|
2.08773e-05
|
|
|
SCA6
|
[NCBI]
|
2.07323e-05
|
|
|
DM2
|
[NCBI]
|
1.90046e-05
|
|
|
SCA7
|
[NCBI]
|
1.79742e-05
|
|
|
MB
|
[NCBI]
|
1.77686e-05
|
|
|
RSTS
|
[NCBI]
|
1.67994e-05
|
|
|
PDCD8
|
[NCBI]
|
1.62319e-05
|
|
|
PLG
|
[NCBI]
|
1.61682e-05
|
|
|
ND
|
[NCBI]
|
1.55301e-05
|
|
|
AMC
|
[NCBI]
|
1.53317e-05
|
|
|
NPS
|
[NCBI]
|
1.53317e-05
|
|
|
MJD
|
[NCBI]
|
1.48431e-05
|
|
|
FOP
|
[NCBI]
|
1.36903e-05
|
|
|
SCA2
|
[NCBI]
|
1.35224e-05
|
|
|
SCA1
|
[NCBI]
|
1.05191e-05
|
|
|
OPMD
|
[NCBI]
|
7.11378e-06
|
|
|
DRPLA
|
[NCBI]
|
5.65087e-06
|
|
|
GDNF
|
[NCBI]
|
5.4983e-06
|
|
|
TNF
|
[NCBI]
|
4.96679e-06
|
|
|
PPARA
|
[NCBI]
|
4.94643e-06
|
|
|
BCNS
|
[NCBI]
|
4.6284e-06
|
|
|
CHAT
|
[NCBI]
|
4.117e-06
|
|
|
HD
|
[NCBI]
|
3.88485e-06
|
|
|
CHS
|
[NCBI]
|
3.2017e-06
|
|
|
GFAP
|
[NCBI]
|
2.36723e-06
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
2.02373e-06
|
|
|
NGFB
|
[NCBI]
|
1.92071e-06
|
|
|
CCK
|
[NCBI]
|
1.16151e-06
|
|
|
BDNF
|
[NCBI]
|
9.77661e-07
|
|
|
TS
|
[NCBI]
|
6.63225e-07
|
|
|
CRH
|
[NCBI]
|
2.66428e-07
|
|
|
MG
|
[NCBI]
|
5.68123e-08
|
|
|
VEGF
|
[NCBI]
|
3.97927e-08
|
|