rs778768583, CAPN3

N. diseases: 10
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 Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene. 27011640 2016
Limb-girdle muscular dystrophy type 2A
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
0.700 CausalMutation CLINVAR Crystal structure of calpain-3 penta-EF-hand (PEF) domain - a homodimerized PEF family member with calcium bound at the fifth EF-hand. 24846670 2014
Limb-girdle muscular dystrophy type 2A
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
0.700 CausalMutation CLINVAR Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients. 25079074 2014
Limb-girdle muscular dystrophy type 2A
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
0.700 GeneticVariation CLINVAR Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective. 23666804 2013
Limb-girdle muscular dystrophy type 2A
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
0.700 CausalMutation CLINVAR Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective. 23666804 2013
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
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
0.700 CausalMutation CLINVAR
Proximal lower limb amyotrophy
CUI: C1836767
Disease: Proximal lower limb amyotrophy
0.700 CausalMutation CLINVAR
Proximal muscle weakness in lower limbs
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
0.700 CausalMutation CLINVAR
Contracture of joint of hand
CUI: C0158113
Disease: Contracture of joint of hand
0.700 CausalMutation CLINVAR
Proximal muscle weakness in upper limbs
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
0.700 CausalMutation CLINVAR
Muscle weakness of limb
CUI: C0587246
Disease: Muscle weakness of limb
0.700 CausalMutation CLINVAR
Difficulty standing
CUI: C0241237
Disease: Difficulty standing
0.700 CausalMutation CLINVAR
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
0.700 CausalMutation CLINVAR
Generalized amyotrophy
CUI: C1389113
Disease: Generalized amyotrophy
0.700 CausalMutation CLINVAR