|
OMIM |
Link |
Information gain |
01 |
|
amyotrophy, monomelic
|
[NCBI]
|
0.00289783
|
|
|
charcot-marie-tooth disease, dominant intermediate a
|
[NCBI]
|
0.00242187
|
|
|
hereditary motor and sensory neuropathy, type iic
|
[NCBI]
|
0.00220971
|
|
|
hereditary motor and sensory neuropathy v
|
[NCBI]
|
0.00205914
|
|
|
auditory neuropathy, autosomal dominant, 1
|
[NCBI]
|
0.00153297
|
|
|
spinal muscular atrophy, distal, congenital nonprogressive
|
[NCBI]
|
0.00136918
|
|
|
CMT1B
|
[NCBI]
|
0.00127447
|
|
|
SPG23
|
[NCBI]
|
0.00125716
|
|
|
HNPP
|
[NCBI]
|
0.00115912
|
|
|
HMN1
|
[NCBI]
|
0.00110239
|
|
|
neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive
|
[NCBI]
|
0.000946691
|
|
|
amyotrophic lateral sclerosis, juvenile, with dementia
|
[NCBI]
|
0.000946691
|
|
|
DSMA2
|
[NCBI]
|
0.000946691
|
|
|
DA10
|
[NCBI]
|
0.000946691
|
|
|
SPG30
|
[NCBI]
|
0.000946691
|
|
|
MBS
|
[NCBI]
|
0.000716923
|
|
|
LGMD2L
|
[NCBI]
|
0.000682824
|
|
|
CMT2G
|
[NCBI]
|
0.000682824
|
|
|
RDPA
|
[NCBI]
|
0.000682824
|
|
|
dyskinesia, familial, with facial myokymia
|
[NCBI]
|
0.000682824
|
|
|
SCA25
|
[NCBI]
|
0.000682824
|
|
|
NEM6
|
[NCBI]
|
0.000682824
|
|
|
giant axonal neuropathy, autosomal dominant
|
[NCBI]
|
0.000682824
|
|
|
RA
|
[NCBI]
|
0.000641635
|
|
|
melkersson-rosenthal syndrome
|
[NCBI]
|
0.000584069
|
|
|
auditory neuropathy, x-linked, 1, with peripheral sensory neuropathy
|
[NCBI]
|
0.000584069
|
|
|
neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers
|
[NCBI]
|
0.000584069
|
|
|
cowchock syndrome
|
[NCBI]
|
0.000584069
|
|
|
myasthenia, limb-girdle, with tubular aggregates
|
[NCBI]
|
0.000584069
|
|
|
erythrokeratodermia variabilis 3
|
[NCBI]
|
0.000584069
|
|
|
bulbar palsy, progressive, with sensorineural deafness
|
[NCBI]
|
0.000584069
|
|
|
indifference to pain, congenital, autosomal dominant
|
[NCBI]
|
0.000584069
|
|
|
CMT1A
|
[NCBI]
|
0.000550295
|
|
|
MPD2
|
[NCBI]
|
0.000520411
|
|
|
amyotrophy, neurogenic scapuloperoneal, new england type
|
[NCBI]
|
0.000520411
|
|
|
CMT2B2
|
[NCBI]
|
0.000520411
|
|
|
PMP22
|
[NCBI]
|
0.000480618
|
|
|
MPZ
|
[NCBI]
|
0.000478935
|
|
|
spinal muscular atrophy, childhood, proximal, autosomal dominant
|
[NCBI]
|
0.000473422
|
|
|
scheuermann disease
|
[NCBI]
|
0.000473422
|
|
|
HMN7A
|
[NCBI]
|
0.00043625
|
|
|
EOCA
|
[NCBI]
|
0.00043625
|
|
|
SCAX1
|
[NCBI]
|
0.00043625
|
|
|
folic acid, transport defect involving
|
[NCBI]
|
0.00043625
|
|
|
CMTX1
|
[NCBI]
|
0.000422092
|
|
|
neuropathy, hereditary motor and sensory, russe type
|
[NCBI]
|
0.000405566
|
|
|
FRDA
|
[NCBI]
|
0.000389372
|
|
|
CTS1
|
[NCBI]
|
0.000379493
|
|
|
HMN5
|
[NCBI]
|
0.000371196
|
|
|
AMCN
|
[NCBI]
|
0.000336917
|
|
|
sjogren syndrome
|
[NCBI]
|
0.000319105
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
0.000305156
|
|
|
GJB1
|
[NCBI]
|
0.000296754
|
|
|
SACS
|
[NCBI]
|
0.000290102
|
|
|
roussy-levy hereditary areflexic dystasia
|
[NCBI]
|
0.00028678
|
|
|
GAN1
|
[NCBI]
|
0.000269093
|
|
|
AIC
|
[NCBI]
|
0.000262726
|
|
|
charcot-marie-tooth disease, axonal, type 2j
|
[NCBI]
|
0.000248683
|
|
|
ALD
|
[NCBI]
|
0.00023611
|
|
|
adie pupil
|
[NCBI]
|
0.000221107
|
|
|
optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive
|
[NCBI]
|
0.000221107
|
|
|
INAD1
|
[NCBI]
|
0.000217474
|
|
|
CMT2A2
|
[NCBI]
|
0.000203272
|
|
|
congenital cataracts, facial dysmorphism, and neuropathy
|
[NCBI]
|
0.000197291
|
|
|
CMT4A
|
[NCBI]
|
0.000197291
|
|
|
CMT2B
|
[NCBI]
|
0.000197291
|
|
|
AKR1B1
|
[NCBI]
|
0.000192107
|
|
|
slowed nerve conduction velocity, autosomal dominant
|
[NCBI]
|
0.000182931
|
|
|
EAOH
|
[NCBI]
|
0.000170482
|
|
|
krabbe disease
|
[NCBI]
|
0.000168
|
|
|
charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive
|
[NCBI]
|
0.00016572
|
|
|
NGFB
|
[NCBI]
|
0.000146211
|
|
|
ALS4
|
[NCBI]
|
0.000137606
|
|
|
charcot-marie-tooth disease, dominant intermediate b
|
[NCBI]
|
0.000137606
|
|
|
SMAX1
|
[NCBI]
|
0.000132516
|
|
|
lipomatosis, familial benign cervical
|
[NCBI]
|
0.00013146
|
|
|
SJS1
|
[NCBI]
|
0.000129215
|
|
|
MAG
|
[NCBI]
|
0.000123877
|
|
|
CMT4D
|
[NCBI]
|
0.000121496
|
|
|
behcet syndrome
|
[NCBI]
|
0.000119828
|
|
|
SCAR1
|
[NCBI]
|
0.000117339
|
|
|
metachromatic leukodystrophy due to saposin b deficiency
|
[NCBI]
|
0.000117339
|
|
|
EDMD
|
[NCBI]
|
0.000115626
|
|
|
DM2
|
[NCBI]
|
0.000115626
|
|
|
motor neuropathy, peripheral, with dysautonomia
|
[NCBI]
|
0.000110519
|
|
|
neuropathy, hereditary sensory, atypical
|
[NCBI]
|
0.000110519
|
|
|
posterior column ataxia
|
[NCBI]
|
0.000110519
|
|
|
mitochondrial myopathy with lactic acidosis
|
[NCBI]
|
0.000110519
|
|
|
dystonia with ringbinden
|
[NCBI]
|
0.000110519
|
|
|
neuropathy, hereditary thermosensitive
|
[NCBI]
|
0.000110519
|
|
|
neuropathy, hereditary sensory, x-linked
|
[NCBI]
|
0.000110519
|
|
|
hypertrophic neuropathy and cataract
|
[NCBI]
|
0.000110519
|
|
|
choroid plexus calcification and mental retardation
|
[NCBI]
|
0.000110519
|
|
|
myopathy, granulovacuolar lobular, with electrical myotonia
|
[NCBI]
|
0.000110519
|
|
|
CMT2A1
|
[NCBI]
|
0.000110173
|
|
|
SLE
|
[NCBI]
|
0.000106949
|
|
|
MFN2
|
[NCBI]
|
0.000101531
|
|
|
CIPA
|
[NCBI]
|
9.89468e-05
|
|
|
PMD
|
[NCBI]
|
9.25257e-05
|
|
|
MSS
|
[NCBI]
|
9.22942e-05
|
|
|
SACS
|
[NCBI]
|
9.10194e-05
|
|
|
HSAN1
|
[NCBI]
|
9.03174e-05
|
|
|
SCA2
|
[NCBI]
|
8.74406e-05
|
|
|
hypomyelination and congenital cataract
|
[NCBI]
|
8.28258e-05
|
|
|
spinocerebellar ataxia, x-linked 3
|
[NCBI]
|
8.28258e-05
|
|
|
XMRE
|
[NCBI]
|
8.28258e-05
|
|
|
ataxia-deafness-retardation syndrome
|
[NCBI]
|
8.28258e-05
|
|
|
GDAP1
|
[NCBI]
|
7.9202e-05
|
|
|
SPG3A
|
[NCBI]
|
7.24383e-05
|
|
|
HSAN5
|
[NCBI]
|
7.24232e-05
|
|
|
charcot-marie-tooth disease, axonal, type 2f
|
[NCBI]
|
7.24232e-05
|
|
|
CMTX5
|
[NCBI]
|
7.24232e-05
|
|
|
neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
|
[NCBI]
|
7.24232e-05
|
|
|
gonadal dysgenesis, 46,xy, partial, with minifascicular neuropathy
|
[NCBI]
|
7.24232e-05
|
|
|
MM
|
[NCBI]
|
7.01691e-05
|
|
|
myasthenia, limb-girdle, familial
|
[NCBI]
|
6.56961e-05
|
|
|
charcot-marie-tooth disease, recessive intermediate a
|
[NCBI]
|
6.56961e-05
|
|
|
hereditary motor and sensory neuropathy vi
|
[NCBI]
|
6.56961e-05
|
|
|
ABL
|
[NCBI]
|
6.148e-05
|
|
|
KSS
|
[NCBI]
|
6.13721e-05
|
|
|
PCWH
|
[NCBI]
|
6.07145e-05
|
|
|
hypotension, orthostatic
|
[NCBI]
|
6.07145e-05
|
|
|
SCA6
|
[NCBI]
|
5.98187e-05
|
|
|
CSA
|
[NCBI]
|
5.90183e-05
|
|
|
MG
|
[NCBI]
|
5.77533e-05
|
|
|
scapuloperoneal syndrome, neurogenic, kaeser type
|
[NCBI]
|
5.67609e-05
|
|
|
leukodystrophy, adult-onset, autosomal dominant
|
[NCBI]
|
5.67609e-05
|
|
|
charcot-marie-tooth disease and deafness
|
[NCBI]
|
5.67609e-05
|
|
|
gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
|
[NCBI]
|
5.67609e-05
|
|
|
myotonia, potassium-aggravated
|
[NCBI]
|
5.67609e-05
|
|
|
AMC
|
[NCBI]
|
5.67274e-05
|
|
|
MJD
|
[NCBI]
|
5.55903e-05
|
|
|
BSCL2
|
[NCBI]
|
5.50271e-05
|
|
|
SPMM
|
[NCBI]
|
5.34868e-05
|
|
|
GBS
|
[NCBI]
|
5.34868e-05
|
|
|
LGMD2J
|
[NCBI]
|
5.34868e-05
|
|
|
MPD1
|
[NCBI]
|
5.34868e-05
|
|
|
RAB7
|
[NCBI]
|
5.12393e-05
|
|
|
CMT4B1
|
[NCBI]
|
5.06955e-05
|
|
|
ARSA
|
[NCBI]
|
5.00485e-05
|
|
|
AD
|
[NCBI]
|
4.89404e-05
|
|
|
MBP
|
[NCBI]
|
4.8917e-05
|
|
|
HMN2A
|
[NCBI]
|
4.82651e-05
|
|
|
CMT2D
|
[NCBI]
|
4.82651e-05
|
|
|
CMT4B2
|
[NCBI]
|
4.82651e-05
|
|
|
SCN9A
|
[NCBI]
|
4.67991e-05
|
|
|
CNTF
|
[NCBI]
|
4.62823e-05
|
|
|
DA1
|
[NCBI]
|
4.6115e-05
|
|
|
SPG17
|
[NCBI]
|
4.6115e-05
|
|
|
CMT4C
|
[NCBI]
|
4.6115e-05
|
|
|
keratitis-ichthyosis-deafness syndrome, autosomal dominant
|
[NCBI]
|
4.6115e-05
|
|
|
TTR
|
[NCBI]
|
4.59877e-05
|
|
|
scheie syndrome
|
[NCBI]
|
4.41888e-05
|
|
|
LGMD2H
|
[NCBI]
|
4.24455e-05
|
|
|
ACCPN
|
[NCBI]
|
4.08546e-05
|
|
|
indifference to pain, congenital, autosomal recessive
|
[NCBI]
|
4.08546e-05
|
|
|
amyloidosis v
|
[NCBI]
|
4.08546e-05
|
|
|
DSMA1
|
[NCBI]
|
4.08546e-05
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
3.93926e-05
|
|
|
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
|
[NCBI]
|
3.93926e-05
|
|
|
EA1
|
[NCBI]
|
3.93926e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1
|
[NCBI]
|
3.80409e-05
|
|
|
myasthenic syndrome, congenital, associated with episodic apnea
|
[NCBI]
|
3.80409e-05
|
|
|
tibial muscular dystrophy, tardive
|
[NCBI]
|
3.80409e-05
|
|
|
IS1
|
[NCBI]
|
3.73218e-05
|
|
|
EGF
|
[NCBI]
|
3.69302e-05
|
|
|
HSAN2
|
[NCBI]
|
3.67848e-05
|
|
|
SCCMS
|
[NCBI]
|
3.56124e-05
|
|
|
refsum disease
|
[NCBI]
|
3.56124e-05
|
|
|
RSMD1
|
[NCBI]
|
3.56124e-05
|
|
|
SPG2
|
[NCBI]
|
3.56124e-05
|
|
|
neuropathy, congenital hypomyelinating
|
[NCBI]
|
3.56124e-05
|
|
|
SCN4A
|
[NCBI]
|
3.49061e-05
|
|
|
EA2
|
[NCBI]
|
3.45138e-05
|
|
|
HNA
|
[NCBI]
|
3.34808e-05
|
|
|
bethlem myopathy
|
[NCBI]
|
3.34808e-05
|
|
|
NTRK1
|
[NCBI]
|
3.3417e-05
|
|
|
PMC
|
[NCBI]
|
3.25064e-05
|
|
|
canavan disease
|
[NCBI]
|
3.25064e-05
|
|
|
EDMD2
|
[NCBI]
|
3.15849e-05
|
|
|
MDC1A
|
[NCBI]
|
3.07111e-05
|
|
|
DRP2
|
[NCBI]
|
3.03129e-05
|
|
|
ARHGEF10
|
[NCBI]
|
3.03129e-05
|
|
|
myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
|
[NCBI]
|
2.98807e-05
|
|
|
DRD
|
[NCBI]
|
2.98807e-05
|
|
|
SMS
|
[NCBI]
|
2.95113e-05
|
|
|
myopathy, myofibrillar, desmin-related
|
[NCBI]
|
2.90899e-05
|
|
|
HOKPP
|
[NCBI]
|
2.90899e-05
|
|
|
MELAS
|
[NCBI]
|
2.83355e-05
|
|
|
hyperekplexia, hereditary
|
[NCBI]
|
2.83355e-05
|
|
|
VAMP4
|
[NCBI]
|
2.82967e-05
|
|
|
SMA2
|
[NCBI]
|
2.76145e-05
|
|
|
GDNF
|
[NCBI]
|
2.74145e-05
|
|
|
FHM1
|
[NCBI]
|
2.69244e-05
|
|
|
JAM3
|
[NCBI]
|
2.67988e-05
|
|
|
PMP2
|
[NCBI]
|
2.67988e-05
|
|
|
ATP6AP2
|
[NCBI]
|
2.67988e-05
|
|
|
SCN2B
|
[NCBI]
|
2.56063e-05
|
|
|
NRG1
|
[NCBI]
|
2.4255e-05
|
|
|
costello syndrome
|
[NCBI]
|
2.33186e-05
|
|
|
PARK2
|
[NCBI]
|
2.33186e-05
|
|
|
PPP2R2B
|
[NCBI]
|
2.30278e-05
|
|
|
RABAC1
|
[NCBI]
|
2.30278e-05
|
|
|
SPG4
|
[NCBI]
|
2.2792e-05
|
|
|
ARTN
|
[NCBI]
|
2.23708e-05
|
|
|
CJD
|
[NCBI]
|
2.19305e-05
|
|
|
OPA1
|
[NCBI]
|
2.17914e-05
|
|
|
TNF
|
[NCBI]
|
2.17537e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
2.13154e-05
|
|
|
AKR1A1
|
[NCBI]
|
2.12441e-05
|
|
|
SCN8A
|
[NCBI]
|
2.12441e-05
|
|
|
IGHMBP2
|
[NCBI]
|
2.12441e-05
|
|
|
MOG
|
[NCBI]
|
2.07531e-05
|
|
|
GARS
|
[NCBI]
|
2.03004e-05
|
|
|
PRX
|
[NCBI]
|
1.98805e-05
|
|
|
BMD
|
[NCBI]
|
1.95543e-05
|
|
|
HSAN3
|
[NCBI]
|
1.91462e-05
|
|
|
CHRNA1
|
[NCBI]
|
1.75741e-05
|
|
|
NTN1
|
[NCBI]
|
1.75741e-05
|
|
|
APTX
|
[NCBI]
|
1.70557e-05
|
|
|
EGR2
|
[NCBI]
|
1.65805e-05
|
|
|
CALCA
|
[NCBI]
|
1.57351e-05
|
|
|
HSPB1
|
[NCBI]
|
1.55421e-05
|
|
|
MTM1
|
[NCBI]
|
1.53223e-05
|
|
|
hurler syndrome
|
[NCBI]
|
1.50249e-05
|
|
|
SOX10
|
[NCBI]
|
1.48305e-05
|
|
|
HOS
|
[NCBI]
|
1.39029e-05
|
|
|
PWS
|
[NCBI]
|
1.29106e-05
|
|
|
lymphoma, non-hodgkin, familial
|
[NCBI]
|
1.2561e-05
|
|
|
FXN
|
[NCBI]
|
1.22181e-05
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
1.21657e-05
|
|
|
MYH7
|
[NCBI]
|
1.20145e-05
|
|
|
PLP1
|
[NCBI]
|
1.19155e-05
|
|
|
REN
|
[NCBI]
|
1.18183e-05
|
|
|
ALS1
|
[NCBI]
|
1.14968e-05
|
|
|
HRAS
|
[NCBI]
|
1.14464e-05
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
1.09284e-05
|
|
|
FGF1
|
[NCBI]
|
9.04575e-06
|
|
|
VEGF
|
[NCBI]
|
8.79077e-06
|
|
|
CD
|
[NCBI]
|
8.53242e-06
|
|
|
CHAT
|
[NCBI]
|
7.76927e-06
|
|
|
OMP
|
[NCBI]
|
7.12297e-06
|
|
|
SCA1
|
[NCBI]
|
6.93336e-06
|
|
|
NPY
|
[NCBI]
|
6.11909e-06
|
|
|
TH
|
[NCBI]
|
6.04548e-06
|
|
|
BDNF
|
[NCBI]
|
5.28846e-06
|
|
|
GRP
|
[NCBI]
|
5.25705e-06
|
|
|
EPO
|
[NCBI]
|
4.65414e-06
|
|
|
GTS
|
[NCBI]
|
3.76633e-06
|
|
|
SOD1
|
[NCBI]
|
3.73966e-06
|
|
|
EIG
|
[NCBI]
|
3.15845e-06
|
|
|
AR
|
[NCBI]
|
2.98616e-06
|
|
|
SLC6A4
|
[NCBI]
|
2.92405e-06
|
|
|
GJA1
|
[NCBI]
|
2.75654e-06
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
2.46623e-06
|
|
|
CHS
|
[NCBI]
|
2.18225e-06
|
|
|
LPL
|
[NCBI]
|
1.32589e-06
|
|
|
hla-d histocompatibility type
|
[NCBI]
|
1.00717e-06
|
|
|
TSD
|
[NCBI]
|
7.39883e-07
|
|
|
CCK
|
[NCBI]
|
6.52145e-07
|
|
|
ADCYAP1
|
[NCBI]
|
6.3137e-07
|
|
|
ACHE
|
[NCBI]
|
5.21251e-07
|
|
|
CRH
|
[NCBI]
|
4.03769e-07
|
|
|
RNASE3
|
[NCBI]
|
3.6036e-07
|
|
|
VIP
|
[NCBI]
|
2.61763e-07
|
|
|
GNRH1
|
[NCBI]
|
1.90591e-07
|
|
|
APOB
|
[NCBI]
|
1.05303e-07
|
|
|
PPARA
|
[NCBI]
|
5.34614e-08
|
|
|
SHH
|
[NCBI]
|
4.50687e-08
|
|
|
PTH
|
[NCBI]
|
3.02997e-08
|
|
|
PD
|
[NCBI]
|
1.76556e-08
|
|
|
GFAP
|
[NCBI]
|
1.70421e-08
|
|
|
HGF
|
[NCBI]
|
1.63594e-08
|
|
|
RTT
|
[NCBI]
|
6.63052e-09
|
|