PLIN4, perilipin 4, 729359

N. diseases: 14; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs8887
rs8887
Entrez Id: 84717;729359
Gene Symbol: HDGFL2;PLIN4
HDGFL2;PLIN4
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		C 0.800 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs8887
rs8887
Entrez Id: 84717;729359
Gene Symbol: HDGFL2;PLIN4
HDGFL2;PLIN4
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.800 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs13041
rs13041
Entrez Id: 84717;729359
Gene Symbol: HDGFL2;PLIN4
HDGFL2;PLIN4
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs8887
rs8887
Entrez Id: 84717;729359
Gene Symbol: HDGFL2;PLIN4
HDGFL2;PLIN4
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs8887
rs8887
Entrez Id: 84717;729359
Gene Symbol: HDGFL2;PLIN4
HDGFL2;PLIN4
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs16989695
rs16989695
Entrez Id: 729359
Gene Symbol: PLIN4
PLIN4
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs8887
rs8887
Entrez Id: 84717;729359
Gene Symbol: HDGFL2;PLIN4
HDGFL2;PLIN4
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs8887
rs8887
Entrez Id: 84717;729359
Gene Symbol: HDGFL2;PLIN4
HDGFL2;PLIN4
CUI: C0518015
Disease:
Hemoglobin measurement 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs8887
rs8887
Entrez Id: 84717;729359
Gene Symbol: HDGFL2;PLIN4
HDGFL2;PLIN4
CUI: C0206161
Disease:
Reticulocyte count (procedure) 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs8887
rs8887
Entrez Id: 84717;729359
Gene Symbol: HDGFL2;PLIN4
HDGFL2;PLIN4
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs11673616
rs11673616
Entrez Id: 729359
Gene Symbol: PLIN4
PLIN4
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs4991027
rs4991027
Entrez Id: 729359
Gene Symbol: PLIN4
PLIN4
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs884164
rs884164
Entrez Id: 729359
Gene Symbol: PLIN4
PLIN4
CUI: C0151744
Disease:
Myocardial Ischemia 		0.010 GeneticVariation BEFREE Importantly, analysis of a human cohort with suspected coronary artery disease showed that a common noncoding polymorphism, rs884164, decreases the cardiac expression of PLIN5 and is associated with reduced heart function following myocardial ischemia, indicating a role for Plin5 in cardiac dysfunction. 27376234 2016
dbSNP: rs884164
rs884164
Entrez Id: 729359
Gene Symbol: PLIN4
PLIN4
CUI: C0010054
Disease:
Coronary Arteriosclerosis 		0.010 GeneticVariation BEFREE Importantly, analysis of a human cohort with suspected coronary artery disease showed that a common noncoding polymorphism, rs884164, decreases the cardiac expression of PLIN5 and is associated with reduced heart function following myocardial ischemia, indicating a role for Plin5 in cardiac dysfunction. 27376234 2016
dbSNP: rs8887
rs8887
Entrez Id: 84717;729359
Gene Symbol: HDGFL2;PLIN4
HDGFL2;PLIN4
CUI: C0028754
Disease:
Obesity 		0.010 GeneticVariation BEFREE The PLIN4 variant rs8887 modulates obesity related phenotypes in humans through creation of a novel miR-522 seed site. 21533135 2011