| Central Core Myopathy (disorder) |
C0751951 |
RYR1
|
26799446, 14570802, 8220423, 26381711, 23919265, 21674524, 12937085, 14670767, 8220422, 14985404, 9497245, 11709545, 23553484, 21989361, 25747005, 17226826, 27854218, 24561095, 16917943, 23558838, 14708096, 25476234, 26932181, 22473935, 27234031, 10097181, 7829078, 20080402, 12136074, 18253926, 17204054, 18312400, 12565913, 24951453, 11113224, 27586648, 12566385, 12112081, 16621918, 11741831, 20142353 |
| Myopathies, Nemaline |
C0206157 |
ACTA1
|
10508519 |
|
CFL2
|
|
|
NEB
|
15336686, 25110572, 17525139, 25205138, 12207937, 25525159, 24056153, 25356970, 26809617, 9359044, 12207938, 18330676, 26841830, 16917880, 26019235, 19232495, 26197980 |
|
NEFL
|
25264603 |
|
TNNT1
|
27429059, 25430424 |
|
TPM2
|
23413262 |
|
TPM3
|
10619715, 18300303 |
|
KLHL41
|
|
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SRPK3
|
26799446 |
|
RIF1
|
12207938, 15336686, 25205138, 26809617, 16917880, 25356970, 24056153, 26019235 |
|
KLHL9
|
20554658 |
| Myopathy |
C0026848 |
ACACA
|
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ACADM
|
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ACADS
|
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ACADVL
|
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ACTA1
|
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ACTC1
|
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ACTN2
|
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AGL
|
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ALB
|
4126124 |
|
ALPL
|
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AMPD1
|
18380285, 11102975 |
|
SLC25A4
|
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ARG1
|
21239484 |
|
RERE
|
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C1QBP
|
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CAPN3
|
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CASQ1
|
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CAV1
|
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CENPF
|
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CFL2
|
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CHKB
|
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CHRNB1
|
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CHRND
|
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CHRNE
|
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CLCN1
|
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CLTA
|
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COL4A1
|
17938367 |
|
COL6A1
|
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COL6A2
|
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COL6A3
|
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COL12A1
|
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CPT2
|
18380285 |
|
CRYAB
|
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CSF3
|
7543699 |
|
CTSB
|
7099197 |
|
DES
|
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DMD
|
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DNA2
|
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DYNC1H1
|
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DNM2
|
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DPAGT1
|
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DSG2
|
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ELN
|
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EMD
|
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FABP3
|
18308699 |
|
FKTN
|
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FHL1
|
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FHL2
|
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FLNC
|
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FOS
|
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GAA
|
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GABRD
|
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GFER
|
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GFPT1
|
29905857 |
|
B4GALT1
|
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GK
|
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GCLC
|
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GTF2I
|
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HADHA
|
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HADHB
|
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HINT1
|
22961002 |
|
HMGCR
|
23953224 |
|
HNRNPA1
|
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HNRNPA2B1
|
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HSPG2
|
|
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HTR7
|
17600820 |
|
IL1B
|
9184656 |
|
INS
|
496411 |
|
ITGA7
|
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LAMA4
|
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LAMB2
|
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LIMK1
|
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LMNA
|
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SMAD4
|
22158539 |
|
MAOA
|
15946989 |
|
ATP6
|
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TRNC
|
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COX1
|
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COX2
|
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COX3
|
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CYTB
|
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MTM1
|
26938784 |
|
ND1
|
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ND2
|
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ND4
|
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ND4L
|
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ND5
|
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ND6
|
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RNR1
|
12031626 |
|
TRNE
|
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TRNF
|
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TRNH
|
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TRNI
|
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TRNK
|
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TRNL1
|
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TRNP
|
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TRNQ
|
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TRNS1
|
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TRNS2
|
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TRNT
|
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TRNV
|
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TRNW
|
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MYBPC1
|
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MYBPC3
|
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MYH2
|
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MYH6
|
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MYH7
|
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NEB
|
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NDUFB3
|
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NDUFS2
|
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NEFH
|
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OPA1
|
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PGAM2
|
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PGK1
|
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SLC25A3
|
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PLEC
|
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PLN
|
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POLG
|
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PPARA
|
19683050 |
|
PPARG
|
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PRKACA
|
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PRKAR1A
|
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PSEN1
|
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PSEN2
|
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PTEN
|
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PYGM
|
18380285 |
|
RAF1
|
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|
RAPSN
|
9668287 |
|
RET
|
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|
RFC2
|
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|
RYR1
|
|
|
SCN4A
|
15596759, 19065518 |
|
SCN5A
|
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SDHA
|
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SDHD
|
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SFTPC
|
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SGCB
|
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SGCD
|
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SKI
|
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SLC22A5
|
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STIM1
|
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VAMP1
|
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WWTR1
|
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TBCE
|
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TGFB1
|
21152098 |
|
TK2
|
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TMPO
|
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TNNC1
|
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TNNI2
|
19628585 |
|
TNNI3
|
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TNNT1
|
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TNNT2
|
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TPI1
|
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TPM1
|
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TPM2
|
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TPM3
|
|
|
TTN
|
15802564 |
|
UBA1
|
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VCL
|
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VCP
|
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CLIP2
|
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WFS1
|
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XDH
|
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XK
|
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CSRP3
|
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PABPN1
|
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DYSF
|
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COLQ
|
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CNTNAP1
|
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KCNAB2
|
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TCAP
|
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PDE8B
|
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AP1S2
|
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TAF1A
|
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BAZ1B
|
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|
USP8
|
|
|
HTR3B
|
17600820 |
|
LARGE1
|
|
|
MYOT
|
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BAG3
|
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|
GTF2IRD1
|
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|
ZNF536
|
31220337 |
|
HNRNPDL
|
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|
GNE
|
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|
DNM1L
|
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|
ABCC9
|
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|
KLHL41
|
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|
MICU1
|
24336167 |
|
CAP2
|
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|
NEBL
|
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|
AGPAT2
|
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|
POMT1
|
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|
TXNRD2
|
|
|
SLCO1B1
|
31220337, 15681900, 19833260, 21243006, 18650507, 19238167 |
|
LDB3
|
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|
DOLK
|
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|
TRIM32
|
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|
VPS13A
|
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ASTN2
|
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|
ISCU
|
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|
ZBTB20
|
|
|
HSPB8
|
29029362, 28501893, 26976520 |
|
BSCL2
|
|
|
TBL2
|
|
|
ANKRD1
|
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|
NDUFAF4
|
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GMPPB
|
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POMT2
|
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RRM2B
|
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|
PDE11A
|
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|
YARS2
|
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ABHD5
|
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NDUFAF1
|
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CCDC174
|
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PRKAG2
|
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INPP5K
|
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DPM3
|
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|
RMND1
|
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FKBP14
|
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POMGNT1
|
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|
TRMU
|
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|
AGK
|
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|
LMOD3
|
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PNPLA2
|
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|
SELENON
|
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|
ADGRG6
|
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|
ERGIC1
|
|
|
EPG5
|
|
|
GATAD1
|
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|
TRAPPC11
|
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|
PRDM16
|
|
|
CDH23
|
|
|
IRF2BPL
|
|
|
SIL1
|
|
|
CDCP1
|
31220337 |
|
FKRP
|
|
|
PPCS
|
|
|
NARS2
|
|
|
PYROXD1
|
31455395 |
|
PANK2
|
|
|
NUBPL
|
|
|
FLAD1
|
|
|
PUS1
|
|
|
PPP1R14C
|
31220337 |
|
MEGF10
|
22101682 |
|
MYPN
|
|
|
MYO18B
|
|
|
LMNB2
|
|
|
ORAI1
|
|
|
ALG2
|
|
|
NEXN
|
|
|
MGME1
|
|
|
ADSS1
|
|
|
NDUFA11
|
|
|
EVC2
|
31220337 |
|
B3GALNT2
|
|
|
ALG14
|
|
|
VMA21
|
|
|
ANO5
|
|
|
RBM20
|
|
|
CAVIN1
|
|
|
MYMK
|
|
|
KBTBD13
|
|
|
EIF2AK4
|
21239484 |
|
CISD2
|
|
|
CRPPA
|
22522421 |
|
MYHAS
|
|
|
TTN-AS1
|
|
| MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE |
C1850718 |
ISCU
|
18296749, 22125086, 20206689, 19846308, 18304497 |
| Myopathy, Centronuclear, 1 |
C4551952 |
ACTA1
|
|
|
BIN1
|
17676042 |
|
DNM2
|
20227276, 20858595, 19932620, 20529869, 17932957, 19932619, 25492887, 22096584, 26633545, 19122038, 19623537, 15731758, 17376685, 22396310, 17825552, 16227997, 23813975 |
|
MTM1
|
17376685 |
|
MYH7
|
|
|
RYR1
|
17376685 |
|
STIM1
|
|
|
TPM2
|
|
|
TPM3
|
|
|
SELENON
|
|
|
MTMR14
|
17008356, 19465920 |
|
ORAI1
|
|
|
CCDC78
|
|
| MYOPATHY, CENTRONUCLEAR, 3 |
C3280703 |
MYF6
|
11053684 |
| MYOPATHY, CENTRONUCLEAR, 4 |
C3553709 |
CCDC78
|
22818856 |
| MYOPATHY, CENTRONUCLEAR, 5 |
C4014814 |
SPEG
|
28624463, 29614691, 29474540, 25087613, 30412272, 30157964, 19118250 |
|
ASIC4-AS1
|
|
| Myopathy, Centronuclear, Autosomal Dominant |
C1834558 |
ACTA1
|
|
|
BIN1
|
25260562, 17676042 |
|
DNM2
|
21514436, 16227997, 17932957, 29246969, 26273216, 31691805, 17376685 |
|
MTM1
|
17376685 |
|
MYF6
|
|
|
MYH7
|
|
|
RYR1
|
17376685 |
|
STIM1
|
|
|
TPM2
|
|
|
TPM3
|
|
|
SELENON
|
|
|
MTMR14
|
17008356 |
|
ORAI1
|
|
|
CCDC78
|
|
| Myopathy, Centronuclear, Autosomal Recessive |
C0410204 |
BIN1
|
20142620, 24755653, 29950440, 17676042, 24549043 |
|
RYR1
|
20839240 |
|
TTN
|
23975875 |
|
SPEG
|
25087613 |
| MYOPATHY, DISTAL 2 |
C1853723 |
MATR3
|
|
| MYOPATHY, TUBULAR AGGREGATE, 1 |
C4011726 |
CASQ1
|
28895244 |
|
STIM1
|
23332920, 25953320, 24570283, 25326555 |
|
ORAI1
|
|
| MYOPATHY, TUBULAR AGGREGATE, 2 |
C4014557 |
ORAI1
|
25227914, 28058752, 24591628 |
| MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES |
C4015624 |
CASQ1
|
26136523, 25116801, 28895244, 27196359 |
