PLEC, plectin, 5339

N. diseases: 218; N. variants: 35
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338756
rs80338756
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0432317
Disease:
Epidermolysis bullosa simplex, Ogna type 		A 0.800 CausalMutation CLINVAR
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: rs1060499581
rs1060499581
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C3150989
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1060499581
rs1060499581
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2677349
Disease:
Epidermolysis Bullosa Simplex With Pyloric Atresia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1060499581
rs1060499581
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C4225309
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1060499581
rs1060499581
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0432317
Disease:
Epidermolysis bullosa simplex, Ogna type 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs137853160
rs137853160
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2677349
Disease:
Epidermolysis Bullosa Simplex With Pyloric Atresia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137853161
rs137853161
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2677349
Disease:
Epidermolysis Bullosa Simplex With Pyloric Atresia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs374419983
rs374419983
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C4225309
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY 		A 0.700 CausalMutation 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: rs864309671
rs864309671
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2677349
Disease:
Epidermolysis Bullosa Simplex With Pyloric Atresia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs864309672
rs864309672
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2677349
Disease:
Epidermolysis Bullosa Simplex With Pyloric Atresia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs864309673
rs864309673
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C3150989
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		G 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
dbSNP: rs879255260
rs879255260
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0432317
Disease:
Epidermolysis bullosa simplex, Ogna type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554675388
rs1554675388
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C4225309
Disease:
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
dbSNP: rs1554675388
rs1554675388
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2677349
Disease:
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
dbSNP: rs1554675388
rs1554675388
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0432317
Disease:
Epidermolysis bullosa simplex, Ogna type 		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: 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: rs1554675388
rs1554675388
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C3150989
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		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: C4225309
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL 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