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: rs11136341
rs11136341
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C1445957
Disease:
Serum total cholesterol measurement 		G 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs11136341
rs11136341
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		G 0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs11136341
rs11136341
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C1445957
Disease:
Serum total cholesterol measurement 		A 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs11136341
rs11136341
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C1445957
Disease:
Serum total cholesterol measurement 		G 0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs11136341
rs11136341
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		G 0.800 GeneticVariation GWASCAT Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs11136341
rs11136341
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		A 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs11136341
rs11136341
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C1445957
Disease:
Serum total cholesterol measurement 		G 0.800 GeneticVariation GWASCAT Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs11136341
rs11136341
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C1445957
Disease:
Serum total cholesterol measurement 		G 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs11136341
rs11136341
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		G 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs11136341
rs11136341
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		G 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs6995402
rs6995402
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0032181
Disease:
Platelet Count measurement 		C 0.800 GeneticVariation GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
dbSNP: rs6995402
rs6995402
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0032181
Disease:
Platelet Count measurement 		C 0.800 GeneticVariation GWASDB New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
dbSNP: rs80338756
rs80338756
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0432317
Disease:
Epidermolysis bullosa simplex, Ogna type 		0.800 GeneticVariation UNIPROT A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. 11851880 2002
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: rs1065837
rs1065837
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0016529
Disease:
Forced expiratory volume function 		A 0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
dbSNP: rs11136336
rs11136336
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0424678
Disease:
Lean body mass 		0.700 GeneticVariation GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
dbSNP: rs11136341
rs11136341
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		G 0.700 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs11136341
rs11136341
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		G 0.700 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs111730406
rs111730406
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C4225309
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY 		T 0.700 GeneticVariation CLINVAR Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 23289980 2013
dbSNP: rs111730406
rs111730406
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C3150989
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		T 0.700 GeneticVariation CLINVAR Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 23289980 2013