|
OMIM |
Link |
Information gain |
01 |
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.00182189
|
|
|
vacuolar neuromyopathy
|
[NCBI]
|
0.001612
|
|
|
spinal muscular atrophy, distal, congenital nonprogressive
|
[NCBI]
|
0.00147665
|
|
|
amyotrophy, neurogenic scapuloperoneal, new england type
|
[NCBI]
|
0.00138384
|
|
|
visceral neuropathy, familial, autosomal recessive
|
[NCBI]
|
0.00116474
|
|
|
carnitine deficiency, myopathic
|
[NCBI]
|
0.00116474
|
|
|
spinocerebellar ataxia with rigidity and peripheral neuropathy
|
[NCBI]
|
0.000734606
|
|
|
MPD2
|
[NCBI]
|
0.000599634
|
|
|
visceral neuropathy, familial, autosomal dominant
|
[NCBI]
|
0.000599634
|
|
|
hereditary motor and sensory neuropathy, type iic
|
[NCBI]
|
0.000528971
|
|
|
myasthenia, limb-girdle, with tubular aggregates
|
[NCBI]
|
0.000528971
|
|
|
SPG23
|
[NCBI]
|
0.000503004
|
|
|
HMN7A
|
[NCBI]
|
0.000503004
|
|
|
neuropathy, hereditary motor and sensory, russe type
|
[NCBI]
|
0.000503004
|
|
|
myopathy, tubular aggregate
|
[NCBI]
|
0.000480827
|
|
|
klippel-feil syndrome, autosomal dominant
|
[NCBI]
|
0.000480827
|
|
|
amyotrophy, monomelic
|
[NCBI]
|
0.000444338
|
|
|
RA
|
[NCBI]
|
0.00042492
|
|
|
MG
|
[NCBI]
|
0.000409323
|
|
|
WDM
|
[NCBI]
|
0.000379617
|
|
|
NEM3
|
[NCBI]
|
0.000247533
|
|
|
XK
|
[NCBI]
|
0.000243534
|
|
|
EAD
|
[NCBI]
|
0.000224998
|
|
|
SPMM
|
[NCBI]
|
0.000224998
|
|
|
SLE
|
[NCBI]
|
0.000221772
|
|
|
glycogen storage disease iv
|
[NCBI]
|
0.000213198
|
|
|
CHRNA1
|
[NCBI]
|
0.000205117
|
|
|
myopathy, myosin storage
|
[NCBI]
|
0.000203562
|
|
|
RSMD1
|
[NCBI]
|
0.000202689
|
|
|
ophthalmoplegic neuromuscular disorder with abnormal mitochondria
|
[NCBI]
|
0.000201484
|
|
|
SPS
|
[NCBI]
|
0.000199197
|
|
|
MB
|
[NCBI]
|
0.000196019
|
|
|
myasthenic syndrome, congenital, associated with episodic apnea
|
[NCBI]
|
0.000174392
|
|
|
SCCMS
|
[NCBI]
|
0.000171374
|
|
|
CF
|
[NCBI]
|
0.000156653
|
|
|
myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
|
[NCBI]
|
0.000154367
|
|
|
KSS
|
[NCBI]
|
0.000152099
|
|
|
SCN8A
|
[NCBI]
|
0.00015207
|
|
|
MELAS
|
[NCBI]
|
0.000150454
|
|
|
glycogen storage disease iii
|
[NCBI]
|
0.000137429
|
|
|
TPI1
|
[NCBI]
|
0.000133819
|
|
|
EDMD
|
[NCBI]
|
0.000118006
|
|
|
DM2
|
[NCBI]
|
0.000117084
|
|
|
CMT1B
|
[NCBI]
|
0.000113574
|
|
|
FSHMD1A
|
[NCBI]
|
0.000112578
|
|
|
HEXB
|
[NCBI]
|
0.000112001
|
|
|
SMAX1
|
[NCBI]
|
0.000110664
|
|
|
DSMA1
|
[NCBI]
|
0.000106421
|
|
|
motor neuropathy, peripheral, with dysautonomia
|
[NCBI]
|
0.000100696
|
|
|
spinal muscular atrophy, ryukyuan type
|
[NCBI]
|
0.000100696
|
|
|
neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance
|
[NCBI]
|
0.000100696
|
|
|
charcot-marie-tooth disease, guadalajara neuronal type
|
[NCBI]
|
0.000100696
|
|
|
cyprus facial neuromusculoskeletal syndrome
|
[NCBI]
|
0.000100696
|
|
|
atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease
|
[NCBI]
|
0.000100696
|
|
|
INAD1
|
[NCBI]
|
0.000100214
|
|
|
bethlem myopathy
|
[NCBI]
|
9.50368e-05
|
|
|
GBE1
|
[NCBI]
|
9.42743e-05
|
|
|
DCTN1
|
[NCBI]
|
9.42743e-05
|
|
|
MNGIE
|
[NCBI]
|
9.3486e-05
|
|
|
glycogen storage disease ii
|
[NCBI]
|
9.09147e-05
|
|
|
HNA
|
[NCBI]
|
9.05991e-05
|
|
|
central core disease of muscle
|
[NCBI]
|
8.43796e-05
|
|
|
PNPLA6
|
[NCBI]
|
8.40297e-05
|
|
|
choroid plexus calcification and mental retardation
|
[NCBI]
|
7.82562e-05
|
|
|
COL6A1
|
[NCBI]
|
7.56842e-05
|
|
|
CHAT
|
[NCBI]
|
7.48905e-05
|
|
|
CHRNE
|
[NCBI]
|
7.40396e-05
|
|
|
TRPC3
|
[NCBI]
|
7.19329e-05
|
|
|
HERC2
|
[NCBI]
|
7.19329e-05
|
|
|
ATP6AP1
|
[NCBI]
|
7.19329e-05
|
|
|
ANXA4
|
[NCBI]
|
7.19329e-05
|
|
|
ALG10
|
[NCBI]
|
7.19329e-05
|
|
|
XKRX
|
[NCBI]
|
7.19329e-05
|
|
|
XKR3
|
[NCBI]
|
7.19329e-05
|
|
|
sandhoff disease
|
[NCBI]
|
7.09513e-05
|
|
|
myopathy, congenital nonprogressive, with moebius sequence and robin sequence
|
[NCBI]
|
6.98065e-05
|
|
|
myopathy, spheroid body
|
[NCBI]
|
6.98065e-05
|
|
|
CDG1A
|
[NCBI]
|
6.75458e-05
|
|
|
MTM1
|
[NCBI]
|
6.33577e-05
|
|
|
ACHE
|
[NCBI]
|
6.20838e-05
|
|
|
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
|
[NCBI]
|
6.02672e-05
|
|
|
roussy-levy hereditary areflexic dystasia
|
[NCBI]
|
6.02672e-05
|
|
|
NEM1
|
[NCBI]
|
6.02672e-05
|
|
|
EGR4
|
[NCBI]
|
5.81593e-05
|
|
|
SYNC1
|
[NCBI]
|
5.81593e-05
|
|
|
mitochondrial complex iii deficiency
|
[NCBI]
|
5.70355e-05
|
|
|
charcot-marie-tooth disease, axonal, type 2b1
|
[NCBI]
|
5.70355e-05
|
|
|
AMC
|
[NCBI]
|
5.6898e-05
|
|
|
NN
|
[NCBI]
|
5.43536e-05
|
|
|
LGMD2J
|
[NCBI]
|
5.43536e-05
|
|
|
ACTN3
|
[NCBI]
|
5.2965e-05
|
|
|
HTRA2
|
[NCBI]
|
5.2965e-05
|
|
|
LETM1
|
[NCBI]
|
5.2965e-05
|
|
|
mitochondrial myopathy
|
[NCBI]
|
5.20623e-05
|
|
|
IBMPFD
|
[NCBI]
|
5.20623e-05
|
|
|
myasthenic syndrome, congenital, fast-channel
|
[NCBI]
|
5.20623e-05
|
|
|
microcephaly with spastic quadriplegia
|
[NCBI]
|
5.20623e-05
|
|
|
ALS1
|
[NCBI]
|
5.16457e-05
|
|
|
MTTL1
|
[NCBI]
|
5.1298e-05
|
|
|
CMT2D
|
[NCBI]
|
5.00631e-05
|
|
|
cerebral palsy, spastic, symmetric, autosomal recessive
|
[NCBI]
|
5.00631e-05
|
|
|
CTF1
|
[NCBI]
|
4.95943e-05
|
|
|
CKB
|
[NCBI]
|
4.95943e-05
|
|
|
COLQ
|
[NCBI]
|
4.95943e-05
|
|
|
GRM1
|
[NCBI]
|
4.95943e-05
|
|
|
MPZ
|
[NCBI]
|
4.94596e-05
|
|
|
scapuloperoneal syndrome, neurogenic, kaeser type
|
[NCBI]
|
4.82907e-05
|
|
|
HMN2A
|
[NCBI]
|
4.82907e-05
|
|
|
minicore myopathy with external ophthalmoplegia
|
[NCBI]
|
4.82907e-05
|
|
|
CMT4D
|
[NCBI]
|
4.82907e-05
|
|
|
CMT2B
|
[NCBI]
|
4.52561e-05
|
|
|
CMT4A
|
[NCBI]
|
4.52561e-05
|
|
|
MJD
|
[NCBI]
|
4.51176e-05
|
|
|
HSPB8
|
[NCBI]
|
4.50952e-05
|
|
|
GAN
|
[NCBI]
|
4.50952e-05
|
|
|
MERRF
|
[NCBI]
|
4.39361e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive
|
[NCBI]
|
4.39361e-05
|
|
|
congenital cataracts, facial dysmorphism, and neuropathy
|
[NCBI]
|
4.39361e-05
|
|
|
LGMD1B
|
[NCBI]
|
4.39361e-05
|
|
|
CMT2A1
|
[NCBI]
|
4.39361e-05
|
|
|
LGMD2D
|
[NCBI]
|
4.39361e-05
|
|
|
MTTF
|
[NCBI]
|
4.34378e-05
|
|
|
TBCE
|
[NCBI]
|
4.34378e-05
|
|
|
phosphoglycerate kinase 1 deficiency
|
[NCBI]
|
4.27203e-05
|
|
|
HMN5
|
[NCBI]
|
4.27203e-05
|
|
|
SCO2
|
[NCBI]
|
4.20199e-05
|
|
|
TTID
|
[NCBI]
|
4.20199e-05
|
|
|
CDS
|
[NCBI]
|
4.15939e-05
|
|
|
COL6A3
|
[NCBI]
|
4.07812e-05
|
|
|
IGHMBP2
|
[NCBI]
|
4.07812e-05
|
|
|
coenzyme q10 deficiency
|
[NCBI]
|
4.05449e-05
|
|
|
EA1
|
[NCBI]
|
4.05449e-05
|
|
|
SETX
|
[NCBI]
|
3.96815e-05
|
|
|
ACTA1
|
[NCBI]
|
3.96815e-05
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
3.95635e-05
|
|
|
phosphoribosylpyrophosphate synthetase superactivity
|
[NCBI]
|
3.95635e-05
|
|
|
diabetes-deafness syndrome, maternally transmitted
|
[NCBI]
|
3.95635e-05
|
|
|
RAPSN
|
[NCBI]
|
3.86929e-05
|
|
|
tibial muscular dystrophy, tardive
|
[NCBI]
|
3.86418e-05
|
|
|
AHDS
|
[NCBI]
|
3.86418e-05
|
|
|
SYP
|
[NCBI]
|
3.77951e-05
|
|
|
VED
|
[NCBI]
|
3.77733e-05
|
|
|
glutaric acidemia i
|
[NCBI]
|
3.77733e-05
|
|
|
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
|
[NCBI]
|
3.77733e-05
|
|
|
OPMD
|
[NCBI]
|
3.72478e-05
|
|
|
adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
|
[NCBI]
|
3.69521e-05
|
|
|
IBM2
|
[NCBI]
|
3.61737e-05
|
|
|
SPG2
|
[NCBI]
|
3.61737e-05
|
|
|
SGCA
|
[NCBI]
|
3.5511e-05
|
|
|
DLD
|
[NCBI]
|
3.5511e-05
|
|
|
SLC6A8
|
[NCBI]
|
3.5511e-05
|
|
|
EDMD2
|
[NCBI]
|
3.5434e-05
|
|
|
AMPD1
|
[NCBI]
|
3.4855e-05
|
|
|
PMC
|
[NCBI]
|
3.47293e-05
|
|
|
UCMD
|
[NCBI]
|
3.40568e-05
|
|
|
AAA
|
[NCBI]
|
3.40568e-05
|
|
|
HSPB1
|
[NCBI]
|
3.36624e-05
|
|
|
GAN1
|
[NCBI]
|
3.34136e-05
|
|
|
EA2
|
[NCBI]
|
3.34136e-05
|
|
|
MADA
|
[NCBI]
|
3.27975e-05
|
|
|
VWM
|
[NCBI]
|
3.27975e-05
|
|
|
myopathy, myofibrillar, desmin-related
|
[NCBI]
|
3.22063e-05
|
|
|
PVR
|
[NCBI]
|
3.21106e-05
|
|
|
mitochondrial complex i deficiency
|
[NCBI]
|
3.16382e-05
|
|
|
EBR1
|
[NCBI]
|
3.0565e-05
|
|
|
MTM1
|
[NCBI]
|
2.9601e-05
|
|
|
MADD
|
[NCBI]
|
2.95664e-05
|
|
|
FHM1
|
[NCBI]
|
2.95664e-05
|
|
|
MSS
|
[NCBI]
|
2.95664e-05
|
|
|
LGMD2C
|
[NCBI]
|
2.90922e-05
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
2.90922e-05
|
|
|
CDSP
|
[NCBI]
|
2.86334e-05
|
|
|
FPLD2
|
[NCBI]
|
2.86334e-05
|
|
|
DMD
|
[NCBI]
|
2.82296e-05
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
2.77583e-05
|
|
|
CHAC
|
[NCBI]
|
2.73404e-05
|
|
|
AQP4
|
[NCBI]
|
2.73205e-05
|
|
|
TSD
|
[NCBI]
|
2.72518e-05
|
|
|
CYP17A1
|
[NCBI]
|
2.70353e-05
|
|
|
CVS
|
[NCBI]
|
2.69347e-05
|
|
|
GLA
|
[NCBI]
|
2.67583e-05
|
|
|
MM
|
[NCBI]
|
2.65405e-05
|
|
|
POLG
|
[NCBI]
|
2.59732e-05
|
|
|
VCP
|
[NCBI]
|
2.57254e-05
|
|
|
MTATP6
|
[NCBI]
|
2.57254e-05
|
|
|
CMD1A
|
[NCBI]
|
2.47234e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
2.47234e-05
|
|
|
BTHS
|
[NCBI]
|
2.47234e-05
|
|
|
DMPK
|
[NCBI]
|
2.41534e-05
|
|
|
TNF
|
[NCBI]
|
2.41206e-05
|
|
|
SJS1
|
[NCBI]
|
2.40596e-05
|
|
|
SCA6
|
[NCBI]
|
2.37397e-05
|
|
|
MYH7
|
[NCBI]
|
2.31738e-05
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
2.21967e-05
|
|
|
HNPP
|
[NCBI]
|
2.14259e-05
|
|
|
MHS1
|
[NCBI]
|
1.99277e-05
|
|
|
NGFR
|
[NCBI]
|
1.94183e-05
|
|
|
CLS
|
[NCBI]
|
1.90197e-05
|
|
|
CMT1A
|
[NCBI]
|
1.81743e-05
|
|
|
ACADM
|
[NCBI]
|
1.80554e-05
|
|
|
BDNF
|
[NCBI]
|
1.71137e-05
|
|
|
SCA2
|
[NCBI]
|
1.62901e-05
|
|
|
MAPT
|
[NCBI]
|
1.59228e-05
|
|
|
KCNH2
|
[NCBI]
|
1.55224e-05
|
|
|
WHS
|
[NCBI]
|
1.43739e-05
|
|
|
AS
|
[NCBI]
|
1.42252e-05
|
|
|
LS
|
[NCBI]
|
1.40846e-05
|
|
|
PMP22
|
[NCBI]
|
1.22768e-05
|
|
|
GPI
|
[NCBI]
|
1.18701e-05
|
|
|
PWS
|
[NCBI]
|
1.18147e-05
|
|
|
fabry disease
|
[NCBI]
|
1.09139e-05
|
|
|
MAG
|
[NCBI]
|
1.05568e-05
|
|
|
SOD1
|
[NCBI]
|
9.09998e-06
|
|
|
DRPLA
|
[NCBI]
|
7.85647e-06
|
|
|
IL2
|
[NCBI]
|
7.62719e-06
|
|
|
CNTF
|
[NCBI]
|
6.6387e-06
|
|
|
GDNF
|
[NCBI]
|
3.5755e-06
|
|
|
HD
|
[NCBI]
|
2.20896e-06
|
|
|
FMF
|
[NCBI]
|
4.8964e-07
|
|
|
G6PD
|
[NCBI]
|
4.72823e-07
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
4.55693e-07
|
|
|
PD
|
[NCBI]
|
3.94878e-07
|
|
|
FTD
|
[NCBI]
|
3.48242e-07
|
|
|
NGFB
|
[NCBI]
|
3.25162e-07
|
|
|
CAT
|
[NCBI]
|
1.61198e-07
|
|