rs1555421871, CAPN3

N. diseases: 6
Disease: Limb-girdle muscular dystrophy type 2A ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Limb-girdle muscular dystrophy type 2A
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
0.700 CausalMutation CLINVAR Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1). 26501342 2015
Limb-girdle muscular dystrophy type 2A
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
0.700 CausalMutation CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358 2014
Limb-girdle muscular dystrophy type 2A
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
0.700 CausalMutation CLINVAR Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients. 17702496 2007
Limb-girdle muscular dystrophy type 2A
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
0.700 CausalMutation CLINVAR A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay. 17236769 2007
Limb-girdle muscular dystrophy type 2A
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
0.700 CausalMutation CLINVAR Novel mutations in the calpain 3 gene in Germany. 15733273 2005