rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.810
CausalMutation
CLINVAR
Clinical variability in calpainopathy: what makes the difference?
12461690
2002
rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
0.810
GeneticVariation
UNIPROT
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
9762961
1998
rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
0.810
GeneticVariation
UNIPROT
Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.
9655129
1998
rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs80338802
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs2412710
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Triglycerides measurement
G
0.800
GeneticVariation
GWASCAT
A large electronic-health-record-based genome-wide study of serum lipids.
29507422
2018
rs121434544
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs121434544
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs121434548
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs141656719
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs141656719
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
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