Limb-Girdle Muscular Dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
ANOCTAMIN-5-RELATED LIMB-GIRDLE MUSCULAR DYSTROPHY R12
206549
ANO5 Unknown
20301582
Orphanet
LIMB-GIRDLE MUSCLE ATROPHY
C1842552
TTN Causal — Disgenet
LIMB-GIRDLE MUSCULAR DYSTROPHY
MONDO:0016971HP:0006785ORPHA263
CAPN3 Causal
10229226 10330340 11134085 15138196 15827562 16290124 18334579 21624972 23908349 27259757 28881388 31776291 32342993 32896923 7720071 9150160 9521867 9777948
GWAS catalog
SGCB Causal — ClinVar
DYSF Unknown — ClinVar
SGCD Unknown — ClinVar
LIMB-GIRDLE MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE
C2931907
ANO5 Unknown — Disgenet
ASTN2 Unknown — Disgenet
CAPN3 Unknown — Disgenet
DYSF Unknown — Disgenet
FKRP Unknown — Disgenet
HMGCR Unknown — Disgenet
JAG2 Unknown — Disgenet
LAMA2 Unknown — Disgenet
LIMS2 Unknown — Disgenet
PLEC Unknown — Disgenet
POGLUT1 Unknown — Disgenet
POMGNT1 Unknown — Disgenet
POMT1 Unknown — Disgenet
POMT2 Unknown — Disgenet
POPDC1 Unknown — Disgenet
POPDC3 Unknown — Disgenet
SGCA Unknown — Disgenet
SGCB Unknown — Disgenet
SGCD Unknown — Disgenet
SGCG Unknown — Disgenet
TCAP Unknown — Disgenet
TRAPPC11 Unknown — Disgenet
TRIM32 Unknown — Disgenet
TSPAN1 Unknown — Disgenet
LIMB-GIRDLE MUSCULAR DYSTROPHY DUE TO POMK DEFICIENCY
445110MONDO:0014489
POMK Causal
24925318
ClinVar GenCC Orphanet
LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A
C1869123MESH:C535895
CAPN3 Unknown — CTD Disgenet
LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2F
C1832525MESH:C535896
SGCD Unknown
20675662
CTD Disgenet
LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H
C0270968MESH:C535897
ASTN2 Unknown — Disgenet
TRIM32 Unknown — CTD Disgenet
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1B
C1834653
LMNA Unknown — Disgenet
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G
C1836765MESH:C563794
HNRNPDL Unknown — CTD Disgenet
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B
MESH:C535899
DYSF Unknown
15535137
CTD
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2C
MESH:C535900
SGCG Unknown — CTD
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2E
C1858593MESH:C535902
SGCB Unknown — CTD Disgenet