| Myasthenic Syndrome, Congenital, Fast-Channel |
C1837122 |
CHRNA1
|
|
|
CHRND
|
|
|
CHRNE
|
|
| Congenital Myasthenic Syndromes, Postsynaptic |
C0751883 |
CHRNB1
|
|
|
CHRND
|
|
|
CHRNG
|
16826520 |
|
COL13A1
|
26626625 |
|
DPAGT1
|
|
|
GFPT1
|
29905857 |
|
LRP4
|
24234652 |
|
SCN4A
|
12766226 |
|
SLC18A3
|
|
|
SNAP25
|
|
|
PREPL
|
|
|
SLC5A7
|
|
|
ALG2
|
|
|
SYT2
|
|
|
ALG14
|
|
|
AK9
|
27966543 |
|
AGRN
|
19631309, 22205389 |
| Congenital Myasthenic Syndromes, Presynaptic |
C0751884 |
CHRNB1
|
|
|
CHRND
|
|
|
CHRNG
|
16826520 |
|
COL13A1
|
26626625 |
|
DPAGT1
|
|
|
GFPT1
|
29905857 |
|
LRP4
|
|
|
MYO9A
|
27259756 |
|
SCN4A
|
12766226 |
|
SLC18A3
|
27590285 |
|
SLC25A1
|
|
|
SNAP25
|
25792100, 25381298 |
|
VAMP1
|
28253535 |
|
PREPL
|
|
|
SLC5A7
|
27569547 |
|
ALG2
|
|
|
SYT2
|
25192047 |
|
ALG14
|
|
|
AGRN
|
22205389, 19631309 |
| Congenital myasthenic syndrome ib |
C1850792 |
GRN
|
|
|
DOK7
|
23790237, 18626973, 21850686, 16917026, 17439981, 30266093, 21520333, 20458068, 17452375, 25237101, 20012313, 2261499, 20603078, 20554332, 18165682, 23219351, 26633545, 22661499, 19837590 |
|
AGRN
|
|
| Presynaptic congenital myasthenic syndromes |
98914 |
CHAT
|
|
|
AGRN
|
|
|
SLC25A1
|
|
|
SNAP25
|
|
|
SYT2
|
|
|
MYO9A
|
|
|
SLC5A7
|
|
|
VAMP1
|
|
|
SLC18A3
|
|
|
COL13A1
|
|
| Postsynaptic congenital myasthenic syndromes |
98913 |
RAPSN
|
|
|
SCN4A
|
|
|
CHRNA1
|
|
|
CHRNB1
|
|
|
CHRND
|
|
|
CHRNE
|
|
|
DOK7
|
|
|
MUSK
|
|
|
LRP4
|
|
|
AGRN
|
|
|
AK9
|
|
|
COL13A1
|
|
| Myasthenic syndrome, congenital, postsynaptic slow-channel |
C2931107 |
CHRNA1
|
|
| Myasthenic Syndromes, Congenital |
C0751882 |
CHAT
|
26080897, 21786365 |
|
CHRNB1
|
|
|
CHRND
|
11782989 |
|
CHRNE
|
9708546, 29383513, 29054425, 15322984, 10534268, 21150643, 15951177, 27717316, 9158150, 20562457 |
|
CHRNG
|
16826520 |
|
COL13A1
|
|
|
DPAGT1
|
|
|
GFPT1
|
29905857, 21310273 |
|
LAMB2
|
27472506 |
|
LRP4
|
26052878 |
|
MUSK
|
19949040 |
|
PLEC
|
25683118 |
|
RAPSN
|
12807980, 14504330, 15482960, 25792100, 12651869, 14729848 |
|
SCN4A
|
12766226, 26659129 |
|
SLC18A3
|
27590285 |
|
SNAP25
|
|
|
VAMP1
|
28253535 |
|
COLQ
|
9689136, 24281389, 22678886 |
|
PREPL
|
|
|
GMPPB
|
27147698 |
|
TAPBPL
|
|
|
SLC5A7
|
26786006 |
|
ALG2
|
23404334 |
|
SYT2
|
|
|
ALG14
|
23404334 |
|
DOK7
|
16917026, 22230109, 19261599 |
|
AGRN
|
22205389, 19631309, 24951643 |
|
C17orf107
|
20562457, 9708546, 21150643, 29054425, 29383513, 9158150, 27717316 |
| MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL |
C4084823 |
CHRNA1
|
9158151, 15079006, 9221765, 7619526, 8872460, 16685696 |
|
CHRNB1
|
616314 |
|
CHRND
|
11435464 |
|
CHRNE
|
21175599 |
| MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL |
C4225405 |
CHRNA1
|
15079006, 12588888, 10195214 |
|
CHRNE
|
|
|
C17orf107
|
|
| Myasthenic Syndromes, Congenital, Slow Channel |
C0751885 |
CHRNB1
|
|
|
CHRND
|
|
|
CHRNG
|
16826520 |
|
COL13A1
|
|
|
DPAGT1
|
|
|
GFPT1
|
29905857 |
|
LRP4
|
|
|
SCN4A
|
12766226 |
|
SLC18A3
|
|
|
SNAP25
|
|
|
PREPL
|
|
|
SLC5A7
|
|
|
ALG2
|
|
|
SYT2
|
|
|
ALG14
|
|
|
AGRN
|
|
| MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL |
C4225371 |
CHRND
|
16916845, 11435464, 18398509, 12499478 |
| MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY |
C1837091 |
CHRNE
|
21175599, 10514102, 9158150, 16550914, 9668239 |
|
GFPT1
|
|
|
MUSK
|
|
|
RAPSN
|
15482960, 20157724, 12807980, 12796535, 16945936, 17190963, 19620612, 21305573, 14659409, 15036330, 12730725, 18179903, 11791205, 15328566 |
|
C17orf107
|
|
| MYASTHENIC SYNDROME, CONGENITAL, 13 |
C3553645 |
DPAGT1
|
22742743, 30653653, 27604308, 30388443, 25500013, 22492991 |
| MYASTHENIC SYNDROME, CONGENITAL, 12 |
C3552335 |
GFPT1
|
23794683, 23569079, 21310273, 23488891, 28464723, 28712002, 27604308, 25765662 |
| MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC |
C4748684 |
MYO9A
|
26752647, 27259756, 30237576 |
| Myasthenic Syndrome |
C0549225 |
PLEC
|
25683118 |
|
PREPL
|
27472506 |
| MYASTHENIC SYNDROME, CONGENITAL, 16 |
C3280112 |
SCN4A
|
15534250, 26659129, 12766226, 25707578 |
| MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC |
C4748678 |
SLC25A1
|
26870663, 29031613 |
| MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC |
C4310654 |
CHAT
|
|
|
SLC18A3
|
27590285, 31059209 |
| MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL |
C4225374 |
CHRNB1
|
8872460, 8651643, 27391121, 20562457, 616314, 27375219 |
| MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL |
C4225372 |
CHRND
|
11782989, 16916845, 8872460, 11435464 |
| MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL |
C4225369 |
CHRNE
|
10962020, 8755487, 21175599, 22592360 |
|
C17orf107
|
|
| MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL |
C4225413 |
CHRNE
|
12141316, 27375219, 8872460, 21822932, 9158150, 21175599, 8755487, 7531341, 14592868, 7538206, 22678886, 27779167, 12417530 |
|
C17orf107
|
22678886, 7538206, 21822932, 9158150, 8755487, 14592868, 27779167, 8872460 |
| MYASTHENIC SYNDROME, CONGENITAL, 19 |
C4225235 |
COL13A1
|
26626625 |
| MYASTHENIC SYNDROME, CONGENITAL, 17 |
C4225377 |
LRP4
|
24234652, 26052878 |
| MYASTHENIC SYNDROME, CONGENITAL, 18 |
C4225364 |
SNAP25
|
30914295, 27472506, 25381298 |
|
SNAP25-AS1
|
|
| MYASTHENIC SYNDROME, CONGENITAL, 22 |
C4479088 |
PREPL
|
27472506, 24610330 |
| MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC |
C4310694 |
SLC5A7
|
27569547, 26786006 |
| MYASTHENIC SYNDROME, CONGENITAL, 14 |
C4015597 |
ALG2
|
23404334, 27604308, 12684507 |
| MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC |
C4015038 |
SYT2
|
30533528, 25192047 |
| MYASTHENIC SYNDROME, CONGENITAL, 15 |
C4015596 |
ALG14
|
28733338, 27604308, 23404334 |
|
ALG14-AS1
|
28733338 |
| MYASTHENIC SYNDROME, CONGENITAL, 8 |
C3808739 |
AGRN
|
19631309, 22205389, 24951643 |
