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: C0079299
Disease:
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
dbSNP: rs782052037
rs782052037
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0026848
Disease:
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
dbSNP: rs782699072
rs782699072
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0026848
Disease:
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
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: rs11783772
rs11783772
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11783772
rs11783772
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs117961539
rs117961539
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs73715570
rs73715570
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7819099
rs7819099
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11780978
rs11780978
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0029410
Disease:
Osteoarthritis of hip 		A 0.700 GeneticVariation GWASCAT Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis. 29559693 2018
dbSNP: rs11783655
rs11783655
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		T 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs55831924
rs55831924
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C1445957
Disease:
Serum total cholesterol measurement 		T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs55831924
rs55831924
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs7832643
rs7832643
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		T 0.700 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
dbSNP: rs7832643
rs7832643
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C1445957
Disease:
Serum total cholesterol measurement 		T 0.700 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
dbSNP: rs11780978
rs11780978
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0337428
Disease:
Fibrinogen assay 		A 0.700 GeneticVariation GWASCAT A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. 26561523 2016
dbSNP: rs7833924
rs7833924
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0032181
Disease:
Platelet Count measurement 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
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: rs11783655
rs11783655
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0005890
Disease:
Body Height 		A 0.700 GeneticVariation GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103 2014
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
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: rs111730406
rs111730406
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2677349
Disease:
Epidermolysis Bullosa Simplex With Pyloric Atresia 		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: C0432317
Disease:
Epidermolysis bullosa simplex, Ogna type 		T 0.700 GeneticVariation CLINVAR Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 23289980 2013