Limb-girdle muscular dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Beta-sarcoglycanopathy C2930900 SGCB Causal Pathogenic evidence from ClinVar 9032047, 10942431, 18285821, 18996010, 20071171, 22095924 ClinVar
Limb-girdle muscular dystrophy, type 2E C1858593 SGCB Causal Pathogenic evidence from ClinVar 7581448, 7581449, 8968749, 9032047, 9565988, 9631401, 10942431, 10993494, 11369190, 12566530, 12868499, 15938573, 15938574, 17994539, 18285821, 18996010, 19770540, 20071171, 21480868, 22095924, 23349452, 25135358, 25337728, 25525159, 25862795, 26206375, 26404900, 28403181, 30345904 ClinVar
Muscular Dystrophies, Limb-Girdle C0686353 SGCB Causal Pathogenic evidence from ClinVar - ClinVar
SGCD Causal Pathogenic evidence from ClinVar - ClinVar
SGCG Causal Pathogenic evidence from ClinVar - ClinVar
TCAP Causal Pathogenic evidence from ClinVar - ClinVar
TRAPPC11 Causal Pathogenic evidence from ClinVar 26322222, 27707803 ClinVar
TRIM32 Causal Pathogenic evidence from ClinVar - ClinVar
TTN Causal Pathogenic evidence from ClinVar 28716623 ClinVar
ACTA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ASTN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CAV3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12847114 -
DAG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30055862 -
DES Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10545598, 23687351, 30055862 -
DOK7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19261599 -
DPM3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19576565 -
EMD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FHL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GNE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24695763 -
HNRNPA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LMNA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10814726, 12032588, 30055862 -
MYOT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21336781 -
POMGNT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27066570 -
RAPSN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25792100 -
SYNE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SYNE2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 219 SGCD Causal Pathogenic evidence from ClinVar - ClinVar
Limb-girdle muscular dystrophy type 2F C1832525 SGCD Causal Pathogenic evidence from ClinVar 8841194, 9832045, 10735275, 10838250, 16524571, 17994539, 19259135, 19770540, 20675662, 27532257 ClinVar
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 353 SGCG Causal Pathogenic evidence from ClinVar - ClinVar
Muscular Dystrophy, Limb-Girdle, Type 2G C1866008 TCAP Causal Pathogenic evidence from ClinVar 20186049, 27532257 ClinVar
Telethonin-related limb-girdle muscular dystrophy R7 34514 TCAP Causal Pathogenic evidence from ClinVar - ClinVar
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F C1842062 TNPO3 Causal Pathogenic evidence from ClinVar 23543484, 23667635, 31071488, 31192305, 31465518 ClinVar
TNP03-related limb-girdle muscular dystrophy D2 55595 TNPO3 Causal Pathogenic evidence from ClinVar - ClinVar
TOR1AIP1-related limb-girdle muscular dystrophy 424261 TOR1AIP1 Causal Pathogenic evidence from ClinVar - ClinVar
Autosomal recessive limb girdle muscular dystrophy type 2S C4517996 TRAPPC11 Causal Pathogenic evidence from ClinVar 23830518, 26912795, 27707803, 29855340 ClinVar
TRAPPC11-related limb-girdle muscular dystrophy R18 369840 TRAPPC11 Causal Pathogenic evidence from ClinVar - ClinVar
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J C1837342 TTN Causal Pathogenic evidence from ClinVar 12145747, 15728284, 17444505, 18948003, 20186049, 21520333, 22335739, 22526018, 23418287, 23486992, 23606733, 23975875, 24105469, 24119082, 24395473, 24444549, 24636144, 24980681, 25163546, 25214167, 25448463, 25500009, 25589632, 25739468, 26084686, 26315439, 26701604, 26735901, 26777568, 26899768, 27353043, 27532257, 27813223, 27868403, 27869827, 28045975, 28416588, 28611029, 28716623, 28877744, 29057560 ClinVar
Titin-related limb-girdle muscular dystrophy R10 140922 TTN Causal Pathogenic evidence from ClinVar - ClinVar
Alpha-Sarcoglycanopathies C2936332 TUBA1A Causal Pathogenic evidence from ClinVar - ClinVar
H1-9P Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K C1836373 B3GALNT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
B4GAT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DAG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LARGE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POMGNT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RXYLT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C C1832567 CAV3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30055862 -
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E C3148763 DES Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22275259 -
Autosomal dominant limb-girdle muscular dystrophy type 1A 266 MYOT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I C1846672 STRN4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -