rs1555421871, CAPN3

N. diseases: 6
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
Electrocardiogram change
CUI: C0855329
Disease: Electrocardiogram change
0.700 CausalMutation CLINVAR
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
0.700 CausalMutation CLINVAR
Contractures of the joints of the lower limbs
CUI: C1859523
Disease: Contractures of the joints of the lower limbs
0.700 CausalMutation CLINVAR
Flexion contracture - elbow
CUI: C0409338
Disease: Flexion contracture - elbow
0.700 CausalMutation CLINVAR
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
0.700 CausalMutation CLINVAR