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 		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: 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: rs7464572
rs7464572
Entrez Id: 5339;724031
Gene Symbol: PLEC;MIR661
PLEC;MIR661
CUI: C0337428
Disease:
Fibrinogen assay 		0.800 GeneticVariation GWASCAT Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. 28107422 2017
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 		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 		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 GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs7464572
rs7464572
Entrez Id: 5339;724031
Gene Symbol: PLEC;MIR661
PLEC;MIR661
CUI: C0337428
Disease:
Fibrinogen assay 		C 0.800 GeneticVariation GWASCAT Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. 23969696 2013
dbSNP: rs7464572
rs7464572
Entrez Id: 5339;724031
Gene Symbol: PLEC;MIR661
PLEC;MIR661
CUI: C0337428
Disease:
Fibrinogen assay 		C 0.800 GeneticVariation GWASDB Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. 23969696 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: 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 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 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 Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
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: 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