rs782052037
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
Myopathy
0.010
GeneticVariation
BEFREE
We conclude that the L345P desmin mutation has a profound influence on the cytoskeletal organisation both in vivo and in vitro, which reflects the pathogenesis of the desmin myopathy .
12410397
2002
rs782699072
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
Myopathy
0.010
GeneticVariation
BEFREE
We conclude that the L345P desmin mutation has a profound influence on the cytoskeletal organisation both in vivo and in vitro, which reflects the pathogenesis of the desmin myopathy .
12410397
2002
rs80338756
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
Epidermolysis Bullosa Simplex Kobner
0.010
GeneticVariation
BEFREE
Second, a heterozygous missense mutation (R2110W ) in PLEC1 has been documented in patients with EB simplex of the Ogna type, a rare autosomal dominant disorder.
15810881
2005
rs80338756
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
Epidermolysis bullosa simplex, Ogna type
A
0.800
CausalMutation
CLINVAR
rs1060499581
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
A
0.700
GeneticVariation
CLINVAR
rs1060499581
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
A
0.700
GeneticVariation
CLINVAR
rs1060499581
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
Epidermolysis Bullosa Simplex With Pyloric Atresia
A
0.700
GeneticVariation
CLINVAR
rs1060499581
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
A
0.700
GeneticVariation
CLINVAR
rs1060499581
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
Epidermolysis bullosa simplex, Ogna type
A
0.700
GeneticVariation
CLINVAR
rs111730406
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
T
0.700
GeneticVariation
CLINVAR
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
23289980
2013
rs111730406
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
T
0.700
GeneticVariation
CLINVAR
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
23289980
2013
rs111730406
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
T
0.700
GeneticVariation
CLINVAR
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
23289980
2013
rs111730406
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
Epidermolysis Bullosa Simplex With Pyloric Atresia
T
0.700
GeneticVariation
CLINVAR
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
23289980
2013
rs111730406
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
Epidermolysis bullosa simplex, Ogna type
T
0.700
GeneticVariation
CLINVAR
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
23289980
2013
rs137853160
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
Epidermolysis Bullosa Simplex With Pyloric Atresia
A
0.700
CausalMutation
CLINVAR
rs137853161
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
Epidermolysis Bullosa Simplex With Pyloric Atresia
A
0.700
CausalMutation
CLINVAR
rs1554675388
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
A
0.700
GeneticVariation
CLINVAR
Plectin gene defects lead to various forms of epidermolysis bullosa simplex.
19945614
2010
rs1554675388
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
A
0.700
GeneticVariation
CLINVAR
Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions.
8830774
1996
rs1554675388
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
A
0.700
GeneticVariation
CLINVAR
Plectin gene defects lead to various forms of epidermolysis bullosa simplex.
19945614
2010
rs1554675388
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
Epidermolysis Bullosa Simplex With Pyloric Atresia
A
0.700
GeneticVariation
CLINVAR
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.
10652002
2000
rs1554675388
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
A
0.700
GeneticVariation
CLINVAR
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
23289980
2013
rs1554675388
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
Epidermolysis Bullosa Simplex With Pyloric Atresia
A
0.700
GeneticVariation
CLINVAR
Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions.
8830774
1996
rs1554675388
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
A
0.700
GeneticVariation
CLINVAR
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.
10652002
2000
rs1554675388
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
Epidermolysis bullosa simplex, Ogna type
A
0.700
GeneticVariation
CLINVAR
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.
10652002
2000
rs1554675388
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
A
0.700
GeneticVariation
CLINVAR
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.
10652002
2000