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: rs863224965
rs863224965
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR Calpainopathy with macrophage-rich, regional inflammatory infiltrates. 28602176 2017
dbSNP: rs863224965
rs863224965
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. 27259757 2016
dbSNP: rs863224965
rs863224965
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. 27259757 2016
dbSNP: rs863224965
rs863224965
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies. 22443334 2012
dbSNP: rs863224965
rs863224965
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies. 22443334 2012
dbSNP: rs863224965
rs863224965
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A. 19556129 2009
dbSNP: rs863224965
rs863224965
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. 18055493 2007
dbSNP: rs863224965
rs863224965
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. 9150160 1997
dbSNP: rs863224965
rs863224965
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. 9150160 1997