|
OMIM |
Link |
Information gain |
01 |
|
hereditary motor and sensory neuropathy v
|
[NCBI]
|
0.00304458
|
|
|
neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive
|
[NCBI]
|
0.00263767
|
|
|
giant axonal neuropathy, autosomal dominant
|
[NCBI]
|
0.00263767
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
0.00138705
|
|
|
polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive
|
[NCBI]
|
0.00131262
|
|
|
GAN1
|
[NCBI]
|
0.00128987
|
|
|
MPZ
|
[NCBI]
|
0.00110485
|
|
|
HNPP
|
[NCBI]
|
0.0010532
|
|
|
neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers
|
[NCBI]
|
0.00100225
|
|
|
opticocochleodentate degeneration
|
[NCBI]
|
0.00100225
|
|
|
AXPC1
|
[NCBI]
|
0.000885498
|
|
|
behr syndrome
|
[NCBI]
|
0.000885498
|
|
|
cowchock syndrome
|
[NCBI]
|
0.000885498
|
|
|
visceral myopathy, familial, with external ophthalmoplegia
|
[NCBI]
|
0.000809899
|
|
|
HMN7A
|
[NCBI]
|
0.000709304
|
|
|
neuropathy, hereditary motor and sensory, russe type
|
[NCBI]
|
0.000709304
|
|
|
SCAX1
|
[NCBI]
|
0.000709304
|
|
|
neuropathy, congenital hypomyelinating
|
[NCBI]
|
0.000680231
|
|
|
PMP22
|
[NCBI]
|
0.000678156
|
|
|
amyloidosis v
|
[NCBI]
|
0.000589929
|
|
|
TTR
|
[NCBI]
|
0.000554987
|
|
|
charcot-marie-tooth disease, axonal, type 2j
|
[NCBI]
|
0.000534935
|
|
|
APBD
|
[NCBI]
|
0.000507796
|
|
|
HSAN5
|
[NCBI]
|
0.000481967
|
|
|
RA
|
[NCBI]
|
0.000477187
|
|
|
MBS
|
[NCBI]
|
0.000403691
|
|
|
CMT1B
|
[NCBI]
|
0.000380451
|
|
|
lipomatosis, familial benign cervical
|
[NCBI]
|
0.000332502
|
|
|
CMT1A
|
[NCBI]
|
0.000321757
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
0.000309591
|
|
|
CIPA
|
[NCBI]
|
0.000283967
|
|
|
EAOH
|
[NCBI]
|
0.000270466
|
|
|
gonadal dysgenesis, 46,xy, partial, with minifascicular neuropathy
|
[NCBI]
|
0.000267146
|
|
|
HSAN1
|
[NCBI]
|
0.000258875
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
0.000252472
|
|
|
roussy-levy hereditary areflexic dystasia
|
[NCBI]
|
0.000242791
|
|
|
SACS
|
[NCBI]
|
0.000186762
|
|
|
CMT4D
|
[NCBI]
|
0.000186762
|
|
|
congenital cataracts, facial dysmorphism, and neuropathy
|
[NCBI]
|
0.000174259
|
|
|
DSMA1
|
[NCBI]
|
0.000174259
|
|
|
metachromatic leukodystrophy due to saposin b deficiency
|
[NCBI]
|
0.000168939
|
|
|
HSAN2
|
[NCBI]
|
0.000168939
|
|
|
charcot-marie-tooth disease, demyelinating, type 1f
|
[NCBI]
|
0.000160495
|
|
|
spinocerebellar degeneration and corneal dystrophy
|
[NCBI]
|
0.000160495
|
|
|
charcot-marie-tooth disease, dominant intermediate d
|
[NCBI]
|
0.000160495
|
|
|
neuropathy, hereditary sensory, x-linked
|
[NCBI]
|
0.000160495
|
|
|
neuropathy, painful
|
[NCBI]
|
0.000160495
|
|
|
ALD
|
[NCBI]
|
0.000154607
|
|
|
GJB1
|
[NCBI]
|
0.00014639
|
|
|
SCAN1
|
[NCBI]
|
0.000121316
|
|
|
hypomyelination and congenital cataract
|
[NCBI]
|
0.000121316
|
|
|
spinocerebellar ataxia, x-linked 3
|
[NCBI]
|
0.000121316
|
|
|
charcot-marie-tooth disease, axonal, type 2e
|
[NCBI]
|
0.000121316
|
|
|
spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia
|
[NCBI]
|
0.000121316
|
|
|
HSAN3
|
[NCBI]
|
0.000117589
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
0.000117589
|
|
|
CMTX1
|
[NCBI]
|
0.000113873
|
|
|
NTRK1
|
[NCBI]
|
0.000111303
|
|
|
neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
|
[NCBI]
|
0.000106589
|
|
|
myeloma, multiple
|
[NCBI]
|
0.000106589
|
|
|
charcot-marie-tooth disease, recessive intermediate a
|
[NCBI]
|
0.000106589
|
|
|
muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers
|
[NCBI]
|
0.000106589
|
|
|
AMC
|
[NCBI]
|
9.85433e-05
|
|
|
EGR2
|
[NCBI]
|
9.78229e-05
|
|
|
PCWH
|
[NCBI]
|
9.70597e-05
|
|
|
charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive
|
[NCBI]
|
9.70597e-05
|
|
|
CMT4H
|
[NCBI]
|
9.70597e-05
|
|
|
NN
|
[NCBI]
|
8.43922e-05
|
|
|
kanzaki disease
|
[NCBI]
|
8.43922e-05
|
|
|
CMT4B2
|
[NCBI]
|
7.97461e-05
|
|
|
SPG17
|
[NCBI]
|
7.57828e-05
|
|
|
CMT4B1
|
[NCBI]
|
7.57828e-05
|
|
|
SCAR1
|
[NCBI]
|
7.23301e-05
|
|
|
SACS
|
[NCBI]
|
7.16848e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1
|
[NCBI]
|
6.65338e-05
|
|
|
CMT2B
|
[NCBI]
|
6.65338e-05
|
|
|
HMN5
|
[NCBI]
|
6.40526e-05
|
|
|
GDAP1
|
[NCBI]
|
6.39149e-05
|
|
|
NEFL
|
[NCBI]
|
6.27647e-05
|
|
|
SPG2
|
[NCBI]
|
6.1787e-05
|
|
|
ACCPN
|
[NCBI]
|
5.97035e-05
|
|
|
VED
|
[NCBI]
|
5.97035e-05
|
|
|
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency
|
[NCBI]
|
5.97035e-05
|
|
|
PRX
|
[NCBI]
|
5.89158e-05
|
|
|
MFN2
|
[NCBI]
|
5.45894e-05
|
|
|
AGER
|
[NCBI]
|
5.37045e-05
|
|
|
refsum disease
|
[NCBI]
|
5.27408e-05
|
|
|
TGD
|
[NCBI]
|
4.98703e-05
|
|
|
PARK2
|
[NCBI]
|
4.98703e-05
|
|
|
HNA
|
[NCBI]
|
4.98703e-05
|
|
|
krabbe disease
|
[NCBI]
|
4.97617e-05
|
|
|
MAG
|
[NCBI]
|
4.90179e-05
|
|
|
SLE
|
[NCBI]
|
4.88456e-05
|
|
|
FPLD2
|
[NCBI]
|
4.72997e-05
|
|
|
glycogen storage disease iv
|
[NCBI]
|
4.49755e-05
|
|
|
NGFB
|
[NCBI]
|
4.22083e-05
|
|
|
MM
|
[NCBI]
|
4.18654e-05
|
|
|
CADASIL
|
[NCBI]
|
4.00001e-05
|
|
|
CHAC
|
[NCBI]
|
4.00001e-05
|
|
|
NF2
|
[NCBI]
|
4.00001e-05
|
|
|
NEM3
|
[NCBI]
|
3.9121e-05
|
|
|
TDP1
|
[NCBI]
|
3.82597e-05
|
|
|
SBF2
|
[NCBI]
|
3.58179e-05
|
|
|
CSA
|
[NCBI]
|
3.51755e-05
|
|
|
JAM3
|
[NCBI]
|
3.40034e-05
|
|
|
porphyria variegata
|
[NCBI]
|
3.37751e-05
|
|
|
MJD
|
[NCBI]
|
3.35614e-05
|
|
|
EGF
|
[NCBI]
|
3.2798e-05
|
|
|
GBE1
|
[NCBI]
|
3.13579e-05
|
|
|
FGD4
|
[NCBI]
|
3.13579e-05
|
|
|
IGHMBP2
|
[NCBI]
|
3.03308e-05
|
|
|
TBCE
|
[NCBI]
|
3.03308e-05
|
|
|
RAB7
|
[NCBI]
|
2.94335e-05
|
|
|
SPTLC1
|
[NCBI]
|
2.86369e-05
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
2.79208e-05
|
|
|
GARS
|
[NCBI]
|
2.79208e-05
|
|
|
GDNF
|
[NCBI]
|
2.64055e-05
|
|
|
TNF
|
[NCBI]
|
2.59645e-05
|
|
|
NF1
|
[NCBI]
|
2.58446e-05
|
|
|
RELA
|
[NCBI]
|
2.51408e-05
|
|
|
SLS
|
[NCBI]
|
2.50467e-05
|
|
|
APTX
|
[NCBI]
|
2.4277e-05
|
|
|
XK
|
[NCBI]
|
2.3508e-05
|
|
|
wilson disease
|
[NCBI]
|
2.3359e-05
|
|
|
VEGF
|
[NCBI]
|
2.26233e-05
|
|
|
GSN
|
[NCBI]
|
2.2185e-05
|
|
|
MTTK
|
[NCBI]
|
2.18901e-05
|
|
|
NPC1
|
[NCBI]
|
2.14475e-05
|
|
|
SOX10
|
[NCBI]
|
2.10739e-05
|
|
|
coproporphyria
|
[NCBI]
|
2.10739e-05
|
|
|
FRDA
|
[NCBI]
|
2.00551e-05
|
|
|
ALB
|
[NCBI]
|
1.98816e-05
|
|
|
ARSA
|
[NCBI]
|
1.94773e-05
|
|
|
CNTF
|
[NCBI]
|
1.93645e-05
|
|
|
PLP1
|
[NCBI]
|
1.85288e-05
|
|
|
BIRC1
|
[NCBI]
|
1.73906e-05
|
|
|
fabry disease
|
[NCBI]
|
1.59421e-05
|
|
|
ABCD1
|
[NCBI]
|
1.55686e-05
|
|
|
OPMD
|
[NCBI]
|
1.13646e-05
|
|
|
TSD
|
[NCBI]
|
1.04805e-05
|
|
|
SMAX1
|
[NCBI]
|
1.0145e-05
|
|
|
DMD
|
[NCBI]
|
1.01079e-05
|
|
|
NGFR
|
[NCBI]
|
9.06757e-06
|
|
|
RTT
|
[NCBI]
|
7.5285e-06
|
|
|
AKR1B1
|
[NCBI]
|
6.55085e-06
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
6.44777e-06
|
|
|
PD
|
[NCBI]
|
3.74982e-06
|
|
|
CHS
|
[NCBI]
|
3.075e-06
|
|
|
EPO
|
[NCBI]
|
1.21353e-06
|
|
|
temporal arteritis
|
[NCBI]
|
9.72814e-07
|
|
|
MBP
|
[NCBI]
|
8.38905e-07
|
|
|
RNASE3
|
[NCBI]
|
8.15817e-07
|
|
|
CD
|
[NCBI]
|
6.98157e-07
|
|
|
AT
|
[NCBI]
|
5.9275e-07
|
|
|
ACHE
|
[NCBI]
|
5.13237e-07
|
|
|
GFAP
|
[NCBI]
|
3.74238e-07
|
|
|
VIP
|
[NCBI]
|
1.30532e-07
|
|
|
NPY
|
[NCBI]
|
3.05175e-08
|
|