Limb-girdle muscular dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Anoctamin-5-related limb-girdle muscular dystrophy R12 206549 ANO5 Causal Pathogenic evidence from ClinVar - ClinVar
Muscular Dystrophies, Limb-Girdle C0686353 ANO5 Causal Pathogenic evidence from ClinVar 20096397 ClinVar
BVES Causal Pathogenic evidence from ClinVar 26642364 ClinVar
CAPN3 Causal Pathogenic evidence from ClinVar - ClinVar
CRPPA Causal Pathogenic evidence from ClinVar 23288328 ClinVar
DNAJB6 Causal Pathogenic evidence from ClinVar 22366786 ClinVar
DYSF Causal Pathogenic evidence from ClinVar - ClinVar
FKRP Causal Pathogenic evidence from ClinVar 11741828, 12666124, 15060126, 15574464, 15580560, 15833432, 16634037, 17554798, 18593008, 19820980, 19835634, 19900540, 21228398, 22264518, 23576288, 23591631, 24447024, 25048216, 25560911, 26363967, 26574668, 26833294 ClinVar
FKTN Causal Pathogenic evidence from ClinVar - ClinVar
HNRNPDL Causal Pathogenic evidence from ClinVar 30055862 ClinVar
LAMA2 Causal Pathogenic evidence from ClinVar - ClinVar
LIMS2 Causal Pathogenic evidence from ClinVar 25589244 ClinVar
PLEC Causal Pathogenic evidence from ClinVar - ClinVar
POMGNT1 Causal Pathogenic evidence from ClinVar - ClinVar
POMK Causal Pathogenic evidence from ClinVar 29910097 ClinVar
POMT1 Causal Pathogenic evidence from ClinVar - ClinVar
POMT2 Causal Pathogenic evidence from ClinVar - ClinVar
SGCA Causal Pathogenic evidence from ClinVar - ClinVar
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) C1969785 ANO5 Causal Pathogenic evidence from ClinVar 20096397, 21186264, 21739273, 22194990, 22402862, 22499103, 22742934, 22980763, 23041008, 23530687, 23606453, 23607914, 23663589, 23670307, 24803842, 25135358, 25864073, 25891276, 25929793, 26404900, 27854218, 27862037, 27911336 ClinVar
BVES-related limb-girdle muscular dystrophy 476084 BVES Causal Pathogenic evidence from ClinVar - ClinVar
Calpain-3-related limb-girdle muscular dystrophy R1 267 CAPN3 Causal Pathogenic evidence from ClinVar - ClinVar
Limb-girdle muscular dystrophy type 2A C1869123 CAPN3 Causal Pathogenic evidence from ClinVar 7720071, 7762565, 7795603, 8624690, 9150160, 9246005, 9266733, 9452114, 9642272, 9655129, 9762961, 9771675, 9777948, 10102422, 10330340, 10567047, 10679950, 11053681, 11166169, 11245732, 11297944, 11371436, 11525884, 11731278, 12461690, 12890817, 14578192, 14645990, 14981715, 15138196, 15221789, 15351423, 15689361, 15725583, 15726252, 15733273, 15843148, 15884399, 16100770, 16141003, 16372320, 16411092, 16542520, 16607617, 16627476, 16650086, 16971480, 17157502, 17236769, 17258832, 17318636, 17562833, 17702496, 17897828, 17979987, 17994539, 18055493, 18073330, 18334579, 18337726, 18563459, 18854869, 19015733, 19048948, 19156839, 19226146, 19285864, 19364062, 19556129, 20044116, 20517216, 20635405, 20694146, 21204801, 21520333, 21624972, 21984748, 22006685, 22057634, 22158424, 22378277, 22443334, 22926650, 23169433, 23666804, 23677060, 23821418, 24803842, 24846670, 25046369, 25079074, 25135358, 25214167, 25252031, 25326637, 25512505, 25987458, 26060040, 26301378, 26404900, 26484845, 26501342, 26632398, 2667711 ClinVar
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 C4748295 CAPN3 Causal Pathogenic evidence from ClinVar - ClinVar
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K C1836373 CRPPA Causal Pathogenic evidence from ClinVar 22522420, 22522421 ClinVar
FKRP Causal Pathogenic evidence from ClinVar - ClinVar
FKTN Causal Pathogenic evidence from ClinVar - ClinVar
GMPPB Causal Pathogenic evidence from ClinVar - ClinVar
POMGNT1 Causal Pathogenic evidence from ClinVar - ClinVar
POMK Causal Pathogenic evidence from ClinVar - ClinVar
POMT1 Causal Pathogenic evidence from ClinVar 12369018, 14678799, 15637732, 15792865, 16575835, 16717220, 17559086, 17869517, 17878207, 18752264, 20816175, 22323514, 22549409, 24304607, 24491487, 27421908, 27604308, 28116189 ClinVar
POMT2 Causal Pathogenic evidence from ClinVar - ClinVar
DNAJB6-related limb-girdle muscular dystrophy D1 34516 DNAJB6 Causal Pathogenic evidence from ClinVar - ClinVar
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 C4721885 DNAJB6 Causal Pathogenic evidence from ClinVar 22334415, 22366786 ClinVar
Muscular Dystrophy, Limb-Girdle, Type 1D C3501858 DNAJB6 Causal Pathogenic evidence from ClinVar 22334415, 22366786 ClinVar
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E C3148763 DNAJB6 Causal Pathogenic evidence from ClinVar - ClinVar
Dysferlin-related limb-girdle muscular dystrophy R2 268 DYSF Causal Pathogenic evidence from ClinVar - ClinVar
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B C1850889 DYSF Causal Pathogenic evidence from ClinVar 2764718, 9731526, 10196377, 11053681, 11134403, 11468312, 11532985, 12471055, 12796534, 14678801, 15469449, 15535137, 15827562, 15835269, 16010686, 16087766, 16100712, 16705711, 16891820, 16996541, 17070050, 17185750, 17287450, 17331981, 17562833, 17698709, 17828519, 17897828, 17994539, 18276788, 18294055, 18306167, 18832576, 18853459, 19084402, 19154541, 19493611, 19528035, 20535123, 20544924, 20558759, 21522182, 22057634, 22194990, 22297152, 22318734, 23185377, 23243261, 23406536, 23519732, 23530687, 24488599, 25312915, 25326637, 25493284, 25591676, 25591678, 25821721, 25868377, 25900324, 25929793, 25987458, 26000923, 26060040, 26088049, 26273692, 26404900, 26436962, 26579332, 26671124, 26806107, 27066573, 27229680, 27290639, 27363342, 27602406, 27641898, 27647186, 27666772, 27854218, 28104817, 28403181, 30564623 ClinVar
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I C1846672 FKRP Causal Pathogenic evidence from ClinVar 11053680, 11592034, 11741828, 12666124, 12707425, 14523375, 14647208, 14652796, 15060126, 15574464, 15580560, 15833426, 16344347, 16368217, 16476814, 16634037, 17446099, 18160674, 18639457, 18671187, 18691338, 19155270, 19299310, 19900540, 19955119, 20623375, 20961759, 23420653, 23591631, 23800702, 23894383, 24139536, 25987458, 26320847, 26436962, 27421908, 27439679, 27604308, 28454995, 28629604, 30345904 ClinVar
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M C1969040 FKTN Causal Pathogenic evidence from ClinVar 11165248, 14627679, 17044012, 17878207, 19342235, 27421908, 27604308 ClinVar
HNRNPDL-related limb-girdle muscular dystrophy D3 55596 HNRNPDL Causal Pathogenic evidence from ClinVar - ClinVar
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder) C1836765 HNRNPDL Causal Pathogenic evidence from ClinVar 24647604, 30055862 ClinVar
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 C4748327 LAMA2 Causal Pathogenic evidence from ClinVar 21953594, 24957499 ClinVar
LIMS2-related limb-girdle muscular dystrophy 466801 LIMS2 Causal Pathogenic evidence from ClinVar - ClinVar
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q C3150989 PLEC Causal Pathogenic evidence from ClinVar 8830774, 10652002, 15654962, 19945614, 21109228, 23289980, 25556389, 27234031, 28447722 ClinVar
Plectin-related limb-girdle muscular dystrophy R17 254361 PLEC Causal Pathogenic evidence from ClinVar - ClinVar
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 C4310660 POGLUT1 Causal Pathogenic evidence from ClinVar 27807076, 29034878 ClinVar
POGLUT1-related limb-girdle muscular dystrophy R21 480682 POGLUT1 Causal Pathogenic evidence from ClinVar - ClinVar
Limb-girdle muscular dystrophy due to POMK deficiency 445110 POMK Causal Pathogenic evidence from ClinVar - ClinVar
Alpha-Sarcoglycanopathies C2936332 SGCA Causal Pathogenic evidence from ClinVar 7657792, 7663524, 7668821, 8069911, 8528203, 8866424, 9032047, 9153448, 9192266, 9455986, 9585331, 10993494, 11121445, 11475588, 12075495, 12566530, 12746421, 14595658, 15298081, 15736300, 15833425, 16616845, 16778590, 16787395, 17994539, 18252745, 18285821, 18421900, 18535179, 18996010, 19798725, 21856579, 22095924, 24464767, 24565866, 24742800, 25046369, 25135358, 25214167, 26404900, 26453141, 26916285, 26934379, 27120200, 28403181, 29351619, 30345904 ClinVar
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 119 SGCB Causal Pathogenic evidence from ClinVar - ClinVar