|
OMIM |
Link |
Information gain |
01 |
|
FSHMD1A
|
[NCBI]
|
0.0351094
|
|
|
DMD
|
[NCBI]
|
0.00938621
|
|
|
DMD
|
[NCBI]
|
0.0059909
|
|
|
OPMD
|
[NCBI]
|
0.00489499
|
|
|
FCMD
|
[NCBI]
|
0.00366827
|
|
|
muscular dystrophy, congenital, merosin-positive
|
[NCBI]
|
0.00284201
|
|
|
LGMD1D
|
[NCBI]
|
0.00284201
|
|
|
EDMD
|
[NCBI]
|
0.0026616
|
|
|
BMD
|
[NCBI]
|
0.00248746
|
|
|
MEB
|
[NCBI]
|
0.0022216
|
|
|
MM
|
[NCBI]
|
0.0020916
|
|
|
WDM
|
[NCBI]
|
0.00207203
|
|
|
LGMD2C
|
[NCBI]
|
0.00205809
|
|
|
DFN4
|
[NCBI]
|
0.00177722
|
|
|
spinal muscular atrophy, facioscapulohumeral type
|
[NCBI]
|
0.00177722
|
|
|
LGMD2A
|
[NCBI]
|
0.00175034
|
|
|
UCMD
|
[NCBI]
|
0.00171979
|
|
|
walker-warburg syndrome
|
[NCBI]
|
0.0015865
|
|
|
SLE
|
[NCBI]
|
0.00147122
|
|
|
LGMD1F
|
[NCBI]
|
0.0014179
|
|
|
muscular dystrophy, congenital, producing arthrogryposis
|
[NCBI]
|
0.0014179
|
|
|
MPD3
|
[NCBI]
|
0.0014179
|
|
|
spinal muscular atrophy, childhood, proximal, autosomal dominant
|
[NCBI]
|
0.00118068
|
|
|
DYSF
|
[NCBI]
|
0.00113816
|
|
|
FKRP
|
[NCBI]
|
0.00104288
|
|
|
LGMD2B
|
[NCBI]
|
0.00102697
|
|
|
MDC1A
|
[NCBI]
|
0.00101376
|
|
|
LGMD1A
|
[NCBI]
|
0.00100865
|
|
|
EMD
|
[NCBI]
|
0.000923722
|
|
|
LGMD2D
|
[NCBI]
|
0.000873916
|
|
|
visceral myopathy, familial, with external ophthalmoplegia
|
[NCBI]
|
0.000824335
|
|
|
LGMD2E
|
[NCBI]
|
0.000775559
|
|
|
EDMD2
|
[NCBI]
|
0.000768589
|
|
|
muscular dystrophy, pseudohypertrophic, with internalized capillaries
|
[NCBI]
|
0.000708178
|
|
|
arrhythmogenic right ventricular dysplasia, familial, 7
|
[NCBI]
|
0.000708178
|
|
|
muscular dystrophy, congenital, 1b
|
[NCBI]
|
0.000708178
|
|
|
LAMA2
|
[NCBI]
|
0.000705458
|
|
|
bethlem myopathy
|
[NCBI]
|
0.000699667
|
|
|
SGCA
|
[NCBI]
|
0.000682749
|
|
|
epidermolysis bullosa simplex and limb-girdle muscular dystrophy
|
[NCBI]
|
0.000675124
|
|
|
CF
|
[NCBI]
|
0.000665968
|
|
|
tibial muscular dystrophy, tardive
|
[NCBI]
|
0.00065919
|
|
|
CAPN3
|
[NCBI]
|
0.000649356
|
|
|
RSMD1
|
[NCBI]
|
0.00063731
|
|
|
MDC1C
|
[NCBI]
|
0.000620274
|
|
|
CAV3
|
[NCBI]
|
0.00059923
|
|
|
FKTN
|
[NCBI]
|
0.00057155
|
|
|
LGMD2J
|
[NCBI]
|
0.000542664
|
|
|
DAG1
|
[NCBI]
|
0.000540623
|
|
|
LGMD2L
|
[NCBI]
|
0.000491959
|
|
|
FSHMD1B
|
[NCBI]
|
0.000491959
|
|
|
myopathy, limb-girdle, with bone fragility
|
[NCBI]
|
0.000491959
|
|
|
COL6A1
|
[NCBI]
|
0.000462842
|
|
|
POMGNT1
|
[NCBI]
|
0.000424546
|
|
|
LGMD1C
|
[NCBI]
|
0.000418674
|
|
|
myopathy, hyaline body, autosomal recessive
|
[NCBI]
|
0.000411432
|
|
|
vacuolar neuromyopathy
|
[NCBI]
|
0.000411432
|
|
|
megalencephaly
|
[NCBI]
|
0.000411432
|
|
|
CMD1F
|
[NCBI]
|
0.000411432
|
|
|
LGMD2I
|
[NCBI]
|
0.00039803
|
|
|
SGCG
|
[NCBI]
|
0.000391746
|
|
|
SGCB
|
[NCBI]
|
0.000391746
|
|
|
NM
|
[NCBI]
|
0.000386306
|
|
|
COL6A2
|
[NCBI]
|
0.000379922
|
|
|
POMT1
|
[NCBI]
|
0.00036978
|
|
|
LARGE
|
[NCBI]
|
0.000351357
|
|
|
zinc, elevated plasma
|
[NCBI]
|
0.000321762
|
|
|
amyotrophy, neurogenic scapuloperoneal, new england type
|
[NCBI]
|
0.000321762
|
|
|
MPD1
|
[NCBI]
|
0.000302123
|
|
|
myasthenia, limb-girdle, with tubular aggregates
|
[NCBI]
|
0.000291846
|
|
|
LMNA
|
[NCBI]
|
0.000291133
|
|
|
COL6A3
|
[NCBI]
|
0.000284816
|
|
|
LGMD2H
|
[NCBI]
|
0.000275826
|
|
|
LGMD2F
|
[NCBI]
|
0.000269541
|
|
|
MEAX
|
[NCBI]
|
0.00026726
|
|
|
HMN7A
|
[NCBI]
|
0.00026726
|
|
|
inclusion body myositis
|
[NCBI]
|
0.00026726
|
|
|
creatine phosphokinase, elevated serum
|
[NCBI]
|
0.000248327
|
|
|
LGMD1B
|
[NCBI]
|
0.000248188
|
|
|
SEPN1
|
[NCBI]
|
0.000243103
|
|
|
SJS1
|
[NCBI]
|
0.000229952
|
|
|
MB
|
[NCBI]
|
0.000229562
|
|
|
DFN2
|
[NCBI]
|
0.000212738
|
|
|
PABPN1
|
[NCBI]
|
0.000209521
|
|
|
UTRN
|
[NCBI]
|
0.000198824
|
|
|
LGMD2K
|
[NCBI]
|
0.000196114
|
|
|
PLEC1
|
[NCBI]
|
0.000189793
|
|
|
TNF
|
[NCBI]
|
0.00018693
|
|
|
hyperglycerolemia
|
[NCBI]
|
0.000177662
|
|
|
udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine kinase
|
[NCBI]
|
0.000176266
|
|
|
TTN
|
[NCBI]
|
0.000173352
|
|
|
TTID
|
[NCBI]
|
0.000172699
|
|
|
SPMM
|
[NCBI]
|
0.000155494
|
|
|
muscular dystrophy, scapulohumeral
|
[NCBI]
|
0.000154939
|
|
|
DMAT
|
[NCBI]
|
0.000154939
|
|
|
LGMD2G
|
[NCBI]
|
0.000154939
|
|
|
SGCD
|
[NCBI]
|
0.000152023
|
|
|
AIED
|
[NCBI]
|
0.000149908
|
|
|
DTNA
|
[NCBI]
|
0.000129493
|
|
|
muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers
|
[NCBI]
|
0.000124121
|
|
|
muscular dystrophy, hemizygous lethal type
|
[NCBI]
|
0.000124121
|
|
|
FER1L3
|
[NCBI]
|
0.000113805
|
|
|
LRE2
|
[NCBI]
|
0.000113805
|
|
|
APC
|
[NCBI]
|
0.000106994
|
|
|
FLNC
|
[NCBI]
|
9.48549e-05
|
|
|
GK
|
[NCBI]
|
9.44048e-05
|
|
|
MG
|
[NCBI]
|
9.32162e-05
|
|
|
PTH
|
[NCBI]
|
9.18385e-05
|
|
|
RMD
|
[NCBI]
|
8.67416e-05
|
|
|
XK
|
[NCBI]
|
8.42457e-05
|
|
|
mitochondrial myopathy with diabetes
|
[NCBI]
|
8.28327e-05
|
|
|
IBMPFD
|
[NCBI]
|
8.28327e-05
|
|
|
C1QG
|
[NCBI]
|
8.04509e-05
|
|
|
SXI1
|
[NCBI]
|
7.86139e-05
|
|
|
muscular dystrophy, congenital, with rapid progression
|
[NCBI]
|
7.74588e-05
|
|
|
muscular dystrophy, congenital, with cerebellar atrophy
|
[NCBI]
|
7.74588e-05
|
|
|
muscular dystrophy, congenital, megaconial type
|
[NCBI]
|
7.74588e-05
|
|
|
muscular dystrophy, adult-onset, with leukoencephalopathy
|
[NCBI]
|
7.74588e-05
|
|
|
muscular dystrophy, congenital, with infantile cataract and hypogonadism
|
[NCBI]
|
7.74588e-05
|
|
|
myopathy, distal, with early respiratory failure, autosomal dominant
|
[NCBI]
|
7.74588e-05
|
|
|
muscular dystrophy, mabry type
|
[NCBI]
|
7.74588e-05
|
|
|
muscular dystrophy, cardiac type
|
[NCBI]
|
7.74588e-05
|
|
|
muscular dystrophy, progressive pectorodorsal
|
[NCBI]
|
7.74588e-05
|
|
|
oculopharyngodistal myopathy
|
[NCBI]
|
7.74588e-05
|
|
|
myopathy, myofibrillar, zasp-related
|
[NCBI]
|
7.74588e-05
|
|
|
muscular dystrophy, congenital, type 1d
|
[NCBI]
|
7.74588e-05
|
|
|
C1QB
|
[NCBI]
|
7.597e-05
|
|
|
AHC
|
[NCBI]
|
7.5004e-05
|
|
|
scapuloperoneal syndrome, neurogenic, kaeser type
|
[NCBI]
|
7.49141e-05
|
|
|
CLCN1
|
[NCBI]
|
7.27066e-05
|
|
|
C1QA
|
[NCBI]
|
7.23363e-05
|
|
|
myotonia congenita, autosomal recessive
|
[NCBI]
|
6.86592e-05
|
|
|
PD
|
[NCBI]
|
6.83988e-05
|
|
|
FLNA
|
[NCBI]
|
6.83382e-05
|
|
|
XG
|
[NCBI]
|
6.66409e-05
|
|
|
CMD1A
|
[NCBI]
|
6.04977e-05
|
|
|
MYH7
|
[NCBI]
|
5.8309e-05
|
|
|
MPP1
|
[NCBI]
|
5.68919e-05
|
|
|
SEPP1
|
[NCBI]
|
5.68919e-05
|
|
|
CA3
|
[NCBI]
|
5.68919e-05
|
|
|
NGFG
|
[NCBI]
|
5.68919e-05
|
|
|
DNASE1L1
|
[NCBI]
|
5.68919e-05
|
|
|
SGCZ
|
[NCBI]
|
5.68919e-05
|
|
|
DUX2
|
[NCBI]
|
5.68919e-05
|
|
|
GYLTL1B
|
[NCBI]
|
5.68919e-05
|
|
|
DUX1
|
[NCBI]
|
5.68919e-05
|
|
|
SNTB1
|
[NCBI]
|
5.68919e-05
|
|
|
SKIIP
|
[NCBI]
|
5.68919e-05
|
|
|
glycogen storage disease ii
|
[NCBI]
|
5.52378e-05
|
|
|
pleoconial myopathy with salt craving
|
[NCBI]
|
5.5123e-05
|
|
|
filaminopathy, autosomal dominant
|
[NCBI]
|
5.5123e-05
|
|
|
scapuloperoneal myopathy, x-linked dominant
|
[NCBI]
|
5.5123e-05
|
|
|
cardiomyopathy, dilated, with quadriceps myopathy
|
[NCBI]
|
5.5123e-05
|
|
|
IBM2
|
[NCBI]
|
5.04753e-05
|
|
|
SGCE
|
[NCBI]
|
4.97577e-05
|
|
|
SLC25A4
|
[NCBI]
|
4.78312e-05
|
|
|
hypoproteinemia, hypercatabolic
|
[NCBI]
|
4.67776e-05
|
|
|
myopathy with giant abnormal mitochondria
|
[NCBI]
|
4.67776e-05
|
|
|
myopathy with storage of glycoproteins and glycosaminoglycans
|
[NCBI]
|
4.67776e-05
|
|
|
myasthenia, limb-girdle, autoimmune
|
[NCBI]
|
4.67776e-05
|
|
|
macrocephaly
|
[NCBI]
|
4.67776e-05
|
|
|
EPO
|
[NCBI]
|
4.42216e-05
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
4.34829e-05
|
|
|
CAPN2
|
[NCBI]
|
4.31436e-05
|
|
|
SYNC1
|
[NCBI]
|
4.31436e-05
|
|
|
TCAP
|
[NCBI]
|
4.31436e-05
|
|
|
POMT2
|
[NCBI]
|
4.31436e-05
|
|
|
TNNT1
|
[NCBI]
|
4.31436e-05
|
|
|
DUX4
|
[NCBI]
|
4.31436e-05
|
|
|
CAV2
|
[NCBI]
|
4.31436e-05
|
|
|
AMC
|
[NCBI]
|
4.1407e-05
|
|
|
SPG20
|
[NCBI]
|
4.14061e-05
|
|
|
epidermolysis bullosa, late-onset localized junctional, with mental retardation
|
[NCBI]
|
4.14061e-05
|
|
|
PDB
|
[NCBI]
|
4.06533e-05
|
|
|
camurati-engelmann disease
|
[NCBI]
|
3.96518e-05
|
|
|
PRL
|
[NCBI]
|
3.92136e-05
|
|
|
SSPN
|
[NCBI]
|
3.79747e-05
|
|
|
ACTN3
|
[NCBI]
|
3.79747e-05
|
|
|
SECISBP2
|
[NCBI]
|
3.79747e-05
|
|
|
LAMA1
|
[NCBI]
|
3.79747e-05
|
|
|
ANKRD2
|
[NCBI]
|
3.79747e-05
|
|
|
FHL1
|
[NCBI]
|
3.79747e-05
|
|
|
LMNB1
|
[NCBI]
|
3.79747e-05
|
|
|
TYRO3
|
[NCBI]
|
3.79747e-05
|
|
|
SDC4
|
[NCBI]
|
3.79747e-05
|
|
|
KY
|
[NCBI]
|
3.79747e-05
|
|
|
MRX21
|
[NCBI]
|
3.7447e-05
|
|
|
CDD
|
[NCBI]
|
3.7447e-05
|
|
|
FGF6
|
[NCBI]
|
3.46294e-05
|
|
|
SYN1
|
[NCBI]
|
3.46294e-05
|
|
|
CAPN1
|
[NCBI]
|
3.46294e-05
|
|
|
ITGA7
|
[NCBI]
|
3.46294e-05
|
|
|
PDLIM3
|
[NCBI]
|
3.46294e-05
|
|
|
FRG1
|
[NCBI]
|
3.46294e-05
|
|
|
SMA3
|
[NCBI]
|
3.4373e-05
|
|
|
charcot-marie-tooth disease, axonal, type 2b1
|
[NCBI]
|
3.43197e-05
|
|
|
CGD
|
[NCBI]
|
3.41518e-05
|
|
|
DMPK
|
[NCBI]
|
3.30473e-05
|
|
|
RP2
|
[NCBI]
|
3.26521e-05
|
|
|
TS
|
[NCBI]
|
3.22802e-05
|
|
|
FMN
|
[NCBI]
|
3.21502e-05
|
|
|
SDC3
|
[NCBI]
|
3.21502e-05
|
|
|
CUGBP1
|
[NCBI]
|
3.21502e-05
|
|
|
MYOD1
|
[NCBI]
|
3.21502e-05
|
|
|
myopathy, centronuclear, autosomal recessive
|
[NCBI]
|
3.17422e-05
|
|
|
TGFB1
|
[NCBI]
|
3.04579e-05
|
|
|
LDB3
|
[NCBI]
|
3.01811e-05
|
|
|
SMARCA3
|
[NCBI]
|
3.01811e-05
|
|
|
BANF1
|
[NCBI]
|
3.01811e-05
|
|
|
AVP
|
[NCBI]
|
2.99195e-05
|
|
|
mitochondrial myopathy
|
[NCBI]
|
2.95553e-05
|
|
|
myopathy, centronuclear, autosomal dominant
|
[NCBI]
|
2.95553e-05
|
|
|
SDC2
|
[NCBI]
|
2.93144e-05
|
|
|
NGFB
|
[NCBI]
|
2.89401e-05
|
|
|
TRIM32
|
[NCBI]
|
2.85491e-05
|
|
|
MTTE
|
[NCBI]
|
2.71566e-05
|
|
|
RP
|
[NCBI]
|
2.66735e-05
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
2.59924e-05
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
2.59924e-05
|
|
|
myopathy, myosin storage
|
[NCBI]
|
2.59924e-05
|
|
|
minicore myopathy with external ophthalmoplegia
|
[NCBI]
|
2.59924e-05
|
|
|
NOS1
|
[NCBI]
|
2.59433e-05
|
|
|
MTTI
|
[NCBI]
|
2.4869e-05
|
|
|
CXORF5
|
[NCBI]
|
2.4869e-05
|
|
|
DCTN1
|
[NCBI]
|
2.4869e-05
|
|
|
NGFR
|
[NCBI]
|
2.40379e-05
|
|
|
ANKRD1
|
[NCBI]
|
2.30334e-05
|
|
|
NEB
|
[NCBI]
|
2.22365e-05
|
|
|
HPX
|
[NCBI]
|
2.22365e-05
|
|
|
CMD3B
|
[NCBI]
|
2.1951e-05
|
|
|
sialuria
|
[NCBI]
|
2.1951e-05
|
|
|
CAV1
|
[NCBI]
|
2.15036e-05
|
|
|
PRX
|
[NCBI]
|
2.15036e-05
|
|
|
ALD
|
[NCBI]
|
2.14112e-05
|
|
|
CDS
|
[NCBI]
|
1.98176e-05
|
|
|
SLC25A20
|
[NCBI]
|
1.96056e-05
|
|
|
COFS1
|
[NCBI]
|
1.88729e-05
|
|
|
LBR
|
[NCBI]
|
1.85331e-05
|
|
|
XIST
|
[NCBI]
|
1.80421e-05
|
|
|
MSTN
|
[NCBI]
|
1.75774e-05
|
|
|
polycystic kidneys
|
[NCBI]
|
1.73229e-05
|
|
|
FMD
|
[NCBI]
|
1.71786e-05
|
|
|
OTC
|
[NCBI]
|
1.71364e-05
|
|
|
danon disease
|
[NCBI]
|
1.56977e-05
|
|
|
myotonia congenita, autosomal dominant
|
[NCBI]
|
1.50237e-05
|
|
|
SMAX1
|
[NCBI]
|
1.49074e-05
|
|
|
CAT
|
[NCBI]
|
1.43886e-05
|
|
|
MNGIE
|
[NCBI]
|
1.43883e-05
|
|
|
ABCA1
|
[NCBI]
|
1.39527e-05
|
|
|
VASP
|
[NCBI]
|
1.36645e-05
|
|
|
USH2A
|
[NCBI]
|
1.32199e-05
|
|
|
CSNB1A
|
[NCBI]
|
1.32199e-05
|
|
|
NR0B1
|
[NCBI]
|
1.31176e-05
|
|
|
AQP4
|
[NCBI]
|
1.31176e-05
|
|
|
CYP17A1
|
[NCBI]
|
1.28577e-05
|
|
|
DES
|
[NCBI]
|
1.26061e-05
|
|
|
GLA
|
[NCBI]
|
1.26061e-05
|
|
|
MADA
|
[NCBI]
|
1.21694e-05
|
|
|
TG
|
[NCBI]
|
1.19707e-05
|
|
|
myopathy, myofibrillar, desmin-related
|
[NCBI]
|
1.16826e-05
|
|
|
DFNB1
|
[NCBI]
|
1.1219e-05
|
|
|
RP3
|
[NCBI]
|
9.95094e-06
|
|
|
VIP
|
[NCBI]
|
9.76138e-06
|
|
|
BIRC1
|
[NCBI]
|
9.75671e-06
|
|
|
FGF2
|
[NCBI]
|
9.42802e-06
|
|
|
FPLD2
|
[NCBI]
|
8.84058e-06
|
|
|
glycogen storage disease vii
|
[NCBI]
|
8.84058e-06
|
|
|
B2M
|
[NCBI]
|
8.66956e-06
|
|
|
IDE
|
[NCBI]
|
8.25286e-06
|
|
|
CHAC
|
[NCBI]
|
7.86078e-06
|
|
|
PTGS2
|
[NCBI]
|
7.6134e-06
|
|
|
RYR1
|
[NCBI]
|
7.493e-06
|
|
|
ADA
|
[NCBI]
|
6.80738e-06
|
|
|
RTT
|
[NCBI]
|
5.96393e-06
|
|
|
SMN1
|
[NCBI]
|
5.84098e-06
|
|
|
NEM3
|
[NCBI]
|
5.30422e-06
|
|
|
AN2
|
[NCBI]
|
4.51405e-06
|
|
|
HPRT1
|
[NCBI]
|
4.18133e-06
|
|
|
DM2
|
[NCBI]
|
4.15822e-06
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
4.11829e-06
|
|
|
FBN1
|
[NCBI]
|
3.87506e-06
|
|
|
G6PD
|
[NCBI]
|
2.88665e-06
|
|
|
CHS
|
[NCBI]
|
2.71453e-06
|
|
|
hurler syndrome
|
[NCBI]
|
2.35163e-06
|
|
|
LNS
|
[NCBI]
|
2.24293e-06
|
|
|
PLG
|
[NCBI]
|
2.19848e-06
|
|
|
hemophilia a
|
[NCBI]
|
1.589e-06
|
|
|
DHFR
|
[NCBI]
|
1.42632e-06
|
|
|
HGPS
|
[NCBI]
|
1.41767e-06
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
1.41767e-06
|
|
|
PTK2
|
[NCBI]
|
1.01919e-06
|
|
|
ALS1
|
[NCBI]
|
9.99689e-07
|
|
|
menkes disease
|
[NCBI]
|
7.1924e-07
|
|
|
ACHE
|
[NCBI]
|
6.99397e-07
|
|
|
DRPLA
|
[NCBI]
|
6.01064e-07
|
|
|
NS1
|
[NCBI]
|
2.85301e-07
|
|
|
SOD1
|
[NCBI]
|
2.34828e-07
|
|
|
HSCR1
|
[NCBI]
|
1.74002e-07
|
|
|
CNTF
|
[NCBI]
|
3.8108e-08
|
|