PLEC, plectin, 5339

N. diseases: 218; N. variants: 35
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111730406
rs111730406
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2931072
Disease:
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
dbSNP: rs1554675388
rs1554675388
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2931072
Disease:
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		A 0.700 GeneticVariation CLINVAR Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 23289980 2013
dbSNP: rs1554683108
rs1554683108
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2931072
Disease:
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		AA 0.700 GeneticVariation CLINVAR Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 23289980 2013
dbSNP: rs1554675388
rs1554675388
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2931072
Disease:
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
dbSNP: rs1554689309
rs1554689309
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2931072
Disease:
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		A 0.700 CausalMutation CLINVAR Plectin gene defects lead to various forms of epidermolysis bullosa simplex. 19945614 2010
dbSNP: rs1554689309
rs1554689309
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2931072
Disease:
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		A 0.700 CausalMutation CLINVAR Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 15654962 2005
dbSNP: rs1554675388
rs1554675388
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2931072
Disease:
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
dbSNP: rs1554683108
rs1554683108
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2931072
Disease:
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		AA 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
dbSNP: rs1554675388
rs1554675388
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2931072
Disease:
Epidermolysa bullosa simplex and limb girdle muscular 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
dbSNP: rs1554689309
rs1554689309
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2931072
Disease:
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		A 0.700 CausalMutation CLINVAR Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions. 8830774 1996
dbSNP: rs1060499581
rs1060499581
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2931072
Disease:
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs387906801
rs387906801
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2931072
Disease:
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387906802
rs387906802
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2931072
Disease:
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs786205251
rs786205251
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2931072
Disease:
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		AGGATCTCC 0.700 CausalMutation CLINVAR
dbSNP: rs786205253
rs786205253
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2931072
Disease:
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs786205254
rs786205254
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2931072
Disease:
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs864309674
rs864309674
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2931072
Disease:
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		TC 0.700 CausalMutation CLINVAR