CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Disease: Limb-girdle muscular dystrophy type 2A ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749099493
rs749099493
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. 26404900 2015
dbSNP: rs749099493
rs749099493
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR Muscle pathology in 31 patients with calpain 3 gene mutations.. 23821418 2013
dbSNP: rs749099493
rs749099493
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. 18854869 2009
dbSNP: rs749099493
rs749099493
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR Phenotypic variability in siblings with calpainopathy (LGMD2A). 19364062 2008
dbSNP: rs749099493
rs749099493
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 17994539 2008
dbSNP: rs749099493
rs749099493
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 17994539 2008
dbSNP: rs749099493
rs749099493
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. 15689361 2005
dbSNP: rs749099493
rs749099493
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR [Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family]. 15884399 2005
dbSNP: rs749099493
rs749099493
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. 15689361 2005