| Alpha-Sarcoglycanopathies |
C2936332 |
SGCA
|
9192266, 7663524, 26916285, 26934379, 16616845, 25046369, 14595658, 9153448, 10993494, 25135358, 19798725, 8069911, 22095924, 12746421, 29351619, 9455986, 28403181, 7668821, 11121445, 9032047, 8866424, 18421900, 15833425, 17994539, 24464767, 25214167, 15736300, 24565866, 24742800, 12075495, 7657792, 27120200, 12566530, 9585331, 18252745, 26453141, 18285821, 30345904, 8528203, 21856579, 11475588, 18535179, 18996010, 15298081, 16787395, 16778590, 26404900 |
|
TUBA1A
|
|
|
H1-9P
|
|
| Limb-girdle muscular dystrophy type 2F |
C1832525 |
SGCD
|
10735275, 17994539, 8841194, 19259135, 10838250, 16524571, 27532257, 19770540, 20675662, 9832045 |
| Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 |
119 |
SGCB
|
|
| Beta-sarcoglycanopathy |
C2930900 |
SGCB
|
18996010, 9032047, 22095924, 18285821, 10942431, 20071171 |
| Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 |
219 |
SGCD
|
|
| Autosomal recessive limb girdle muscular dystrophy type 2S |
C4517996 |
TRAPPC11
|
29855340, 26912795, 23830518, 27707803 |
| TRAPPC11-related limb-girdle muscular dystrophy R18 |
369840 |
TRAPPC11
|
|
| LIMS2-related limb-girdle muscular dystrophy |
466801 |
LIMS2
|
|
| HNRNPDL-related limb-girdle muscular dystrophy D3 |
55596 |
HNRNPDL
|
|
| Muscular Dystrophies, Limb-Girdle |
C0686353 |
ACTA1
|
|
|
CAPN3
|
|
|
CAV3
|
12847114 |
|
DAG1
|
30055862 |
|
DES
|
30055862, 10545598, 23687351 |
|
EMD
|
|
|
FKTN
|
|
|
FHL1
|
|
|
HNRNPA1
|
|
|
LAMA2
|
|
|
LMNA
|
12032588, 10814726, 30055862 |
|
PLEC
|
|
|
RAPSN
|
25792100 |
|
SGCA
|
|
|
SGCB
|
|
|
SGCD
|
|
|
SGCG
|
|
|
TTN
|
28716623 |
|
DYSF
|
|
|
TCAP
|
|
|
MYOT
|
21336781 |
|
HNRNPDL
|
30055862 |
|
GNE
|
24695763 |
|
DNAJB6
|
22366786 |
|
POMT1
|
|
|
BVES
|
26642364 |
|
TRIM32
|
|
|
SYNE2
|
|
|
ASTN2
|
|
|
SYNE1
|
|
|
POMT2
|
|
|
DPM3
|
19576565 |
|
POMGNT1
|
|
|
LIMS2
|
25589244 |
|
TRAPPC11
|
26322222, 27707803 |
|
FKRP
|
25560911, 25048216, 11741828, 26833294, 17554798, 12666124, 15574464, 26574668, 23576288, 23591631, 16634037, 15060126, 15833432, 24447024, 26363967, 19835634, 15580560, 19820980, 18593008, 21228398, 19900540, 22264518 |
|
TMEM43
|
|
|
POMK
|
29910097 |
|
POMGNT2
|
27066570 |
|
ANO5
|
20096397 |
|
DOK7
|
19261599 |
|
CRPPA
|
23288328 |
|
TTN-AS1
|
|
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 |
C4748295 |
CAPN3
|
|
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C |
C1832567 |
CAV3
|
30055862 |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K |
C1836373 |
DAG1
|
|
|
FKTN
|
|
|
LARGE1
|
|
|
RXYLT1
|
|
|
POMT1
|
22323514, 16575835, 12369018, 17869517, 14678799, 22549409, 15637732, 15792865, 18752264, 20816175, 17878207, 24491487, 17559086, 27604308, 28116189, 27421908, 24304607, 16717220 |
|
B4GAT1
|
|
|
GMPPB
|
|
|
POMT2
|
|
|
POMGNT1
|
|
|
FKRP
|
|
|
POMK
|
|
|
POMGNT2
|
|
|
B3GALNT2
|
|
|
CRPPA
|
22522420, 22522421 |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E |
C3148763 |
DES
|
22275259 |
|
DNAJB6
|
|
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M |
C1969040 |
FKTN
|
19342235, 27604308, 17878207, 14627679, 27421908, 17044012, 11165248 |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 |
C4748327 |
LAMA2
|
24957499, 21953594 |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q |
C3150989 |
PLEC
|
25556389, 19945614, 28447722, 21109228, 8830774, 27234031, 10652002, 23289980, 15654962 |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J |
C1837342 |
TTN
|
28416588, 29057560, 27353043, 27813223, 24636144, 26735901, 24395473, 27869827, 24444549, 24105469, 25448463, 26701604, 15728284, 22335739, 27868403, 28716623, 21520333, 25589632, 24980681, 17444505, 23606733, 25739468, 25163546, 18948003, 25214167, 26315439, 23486992, 12145747, 26777568, 20186049, 27532257, 26899768, 25500009, 28611029, 28045975, 24119082, 23418287, 23975875, 22526018, 28877744, 26084686 |
|
TTN-AS1
|
23418287, 25589632, 24980681, 27532257, 25163546, 22526018, 23975875, 28416588, 18948003, 24395473, 28611029, 26315439, 29057560, 26735901, 26084686, 22335739, 27868403, 28877744, 24444549, 24119082, 25214167, 23606733, 27813223, 24636144, 26701604, 25500009, 17444505, 26899768, 15728284, 28045975, 21520333, 27353043, 23486992, 26777568, 25448463, 25739468, 12145747, 24105469 |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B |
C1850889 |
DYSF
|
15535137, 27290639, 17331981, 17698709, 14678801, 2764718, 11468312, 16100712, 25591676, 23406536, 19154541, 18832576, 27066573, 17994539, 20558759, 17070050, 16087766, 17897828, 26088049, 26579332, 27854218, 22057634, 25326637, 27363342, 26404900, 28104817, 26671124, 12471055, 10196377, 9731526, 11532985, 26806107, 16010686, 26060040, 18853459, 25868377, 16996541, 23519732, 17185750, 26436962, 22297152, 20535123, 24488599, 17562833, 15835269, 20544924, 17287450, 18276788, 21522182, 16705711, 15469449, 19528035, 22194990, 18306167, 22318734, 25900324, 27666772, 27602406, 25493284, 16891820, 23243261, 25987458, 19493611, 25929793, 27647186, 11053681, 23185377, 28403181, 12796534, 25312915, 17828519, 25821721, 23530687, 11134403, 19084402, 27229680, 26273692, 25591678, 18294055, 26000923, 15827562, 27641898, 30564623 |
| Muscular Dystrophy, Limb-Girdle, Type 2G |
C1866008 |
TCAP
|
27532257, 20186049 |
| Muscular Dystrophy, Limb-Girdle, Type 1D |
C3501858 |
DNAJB6
|
22334415, 22366786 |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 |
C4721885 |
DNAJB6
|
22334415, 22366786 |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F |
C1842062 |
TNPO3
|
31071488, 31192305, 23667635, 23543484, 31465518 |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I |
C1846672 |
STRN4
|
|
|
FKRP
|
18639457, 19155270, 14523375, 25987458, 30345904, 14652796, 12666124, 15060126, 23800702, 14647208, 16634037, 18671187, 18160674, 23894383, 11053680, 19299310, 16476814, 27439679, 28629604, 23591631, 15833426, 11741828, 27421908, 19955119, 23420653, 28454995, 20623375, 26436962, 16368217, 15574464, 16344347, 24139536, 17446099, 26320847, 12707425, 11592034, 18691338, 27604308, 19900540, 20961759, 15580560 |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 |
C4310660 |
POGLUT1
|
29034878, 27807076 |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) |
C1969785 |
ANO5
|
22742934, 21186264, 23041008, 23670307, 26404900, 27911336, 23530687, 25864073, 25891276, 22402862, 21739273, 22499103, 25929793, 20096397, 23607914, 25135358, 22194990, 22980763, 24803842, 27854218, 23663589, 27862037, 23606453 |
| Calpain-3-related limb-girdle muscular dystrophy R1 |
267 |
CAPN3
|
|
| Titin-related limb-girdle muscular dystrophy R10 |
140922 |
TTN
|
|
| Plectin-related limb-girdle muscular dystrophy R17 |
254361 |
PLEC
|
|
| Anoctamin-5-related limb-girdle muscular dystrophy R12 |
206549 |
ANO5
|
|
| Limb-girdle muscular dystrophy due to POMK deficiency |
445110 |
POMK
|
|
| TOR1AIP1-related limb-girdle muscular dystrophy |
424261 |
TOR1AIP1
|
|
| Autosomal dominant limb-girdle muscular dystrophy type 1A |
266 |
MYOT
|
|
| Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 |
353 |
SGCG
|
|
| Dysferlin-related limb-girdle muscular dystrophy R2 |
268 |
DYSF
|
|
| POGLUT1-related limb-girdle muscular dystrophy R21 |
480682 |
POGLUT1
|
|
| BVES-related limb-girdle muscular dystrophy |
476084 |
BVES
|
|
| TNP03-related limb-girdle muscular dystrophy D2 |
55595 |
TNPO3
|
|
| Telethonin-related limb-girdle muscular dystrophy R7 |
34514 |
TCAP
|
|
| DNAJB6-related limb-girdle muscular dystrophy D1 |
34516 |
DNAJB6
|
|
| Limb-girdle muscular dystrophy type 2A |
C1869123 |
CAPN3
|
17318636, 27081656, 7720071, 27234031, 25079074, 22378277, 27500519, 14578192, 16650086, 27854218, 27708273, 25326637, 27431290, 24846670, 14981715, 18337726, 26060040, 17979987, 25252031, 8624690, 15884399, 7762565, 20044116, 16627476, 24803842, 25135358, 9777948, 25214167, 20517216, 27023906, 22057634, 9642272, 9771675, 26501342, 18563459, 11053681, 10567047, 21984748, 18055493, 9655129, 20694146, 9246005, 19226146, 19156839, 10102422, 25512505, 9266733, 17236769, 11525884, 9762961, 15351423, 18854869, 12461690, 11166169, 27020652, 17994539, 15138196, 27055500, 26886200, 17258832, 19556129, 21624972, 10330340, 27447704, 9150160, 12890817, 27142102, 27259757, 20635405, 17157502, 27066573, 15689361, 15221789, 11245732, 27262448, 16100770, 16372320, 19364062, 22158424, 9452114, 11371436, 26677118, 21520333, 28915917, 17702496, 27066545, 18334579, 11731278, 19285864, 18073330, 26632398, 17562833, 28403181, 28602176, 10679950, 16141003, 22443334, 7795603, 25987458, 15733273, 27066551, 16607617, 23169433, 19015733, 22926650, 26484845, 16971480, 21204801, 22006685, 15843148, 17897828, 14645990, 16411092, 26810512, 26404900, 15725583, 23666804, 11297944, 25046369, 23677060, 27363342, 27011640, 23821418, 15726252, 19048948, 26301378, 16542520 |
| Limb-girdle muscular dystrophy, type 2E |
C1858593 |
SGCB
|
8968749, 10942431, 20071171, 12868499, 10993494, 9565988, 25135358, 25862795, 19770540, 9032047, 21480868, 15938573, 18285821, 22095924, 15938574, 28403181, 26404900, 25337728, 11369190, 26206375, 18996010, 9631401, 25525159, 7581449, 7581448, 30345904, 23349452, 17994539, 12566530 |
| LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder) |
C1836765 |
HNRNPDL
|
30055862, 24647604 |
