CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.810 GeneticVariation UNIPROT Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. 27020652 2017
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.810 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031 2017
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
A 0.810 CausalMutation CLINVAR A homozygous R769Q mutation in the calpain-3 gene and absence of muscle calpain-3 protein confirmed a calpainopathy. 14645990 2003
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.810 GeneticVariation BEFREE A homozygous R769Q mutation in the calpain-3 gene and absence of muscle calpain-3 protein confirmed a calpainopathy. 14645990 2003
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
A 0.810 CausalMutation CLINVAR Clinical variability in calpainopathy: what makes the difference? 12461690 2002
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.810 GeneticVariation UNIPROT A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A. 9452114 1998
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.810 GeneticVariation UNIPROT Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). 9762961 1998
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
A 0.810 CausalMutation CLINVAR Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. 9642272 1998
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.810 GeneticVariation UNIPROT Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families. 9771675 1998
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.810 GeneticVariation UNIPROT Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings. 9655129 1998
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
A 0.810 CausalMutation CLINVAR DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene. 9246005 1997
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.810 GeneticVariation UNIPROT A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. 9266733 1997
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.810 GeneticVariation UNIPROT Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. 9150160 1997
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.810 GeneticVariation UNIPROT Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. 8624690 1996
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
A 0.810 CausalMutation CLINVAR Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval. 7762565 1995
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
A 0.810 CausalMutation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071 1995
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
A 0.810 CausalMutation CLINVAR Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. 7795603 1995
dbSNP: rs80338802
rs80338802
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.810 GeneticVariation UNIPROT Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071 1995
dbSNP: rs2412710
rs2412710
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C0202236
Disease:
Triglycerides measurement
G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
A 0.800 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273 2017
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
A 0.800 GeneticVariation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273 2017
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
A 0.800 CausalMutation CLINVAR Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 27431290 2017
dbSNP: rs141656719
rs141656719
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.800 GeneticVariation UNIPROT Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. 27020652 2017
dbSNP: rs141656719
rs141656719
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.800 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031 2017
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.800 GeneticVariation UNIPROT Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. 27020652 2017