Gene: NPRL3

Alternate names for this Gene: C16orf35|CGTHBA|FFEVF3|HS-40|MARE|NPR3|RMD11

Gene Summary: The function of the encoded protein is not known.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: NPR3 like, GATOR1 complex subunit

Type of Gene: protein-coding

rs183350 in NPRL3 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs7203560 in NPRL3 gene and Anemia, Sickle Cell PMID 23406172 2013 Perhaps by independently down-regulating expression of the HBA1/HBA2 genes, variants of the HBA1/HBA2 gene regulatory loci, tagged by rs7203560, reduce haemolysis in sickle cell anaemia.

rs11248850 in NPRL3 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

rs2238367 in NPRL3 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 17463246 2007 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

rs1431914212 in NPRL3 gene and EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 PMID 26505888 2016 Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.

PMID 26285051 2016 Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

PMID 27173016 2016 Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.

rs17525396 in NPRL3 gene and Fetal hemoglobin determination PMID 18245381 2008 Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.

rs11248850 in NPRL3 gene and Finding of Mean Corpuscular Hemoglobin PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

PMID 27668658 2016 Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

PMID 28453575 2017 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs570013781 in NPRL3 gene and Hemoglobin A measurement PMID 26366553 2015 Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.

rs570013781 in NPRL3 gene and Hemoglobin measurement PMID 26366553 2015 Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.

PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

rs117747069 in NPRL3 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

PMID 28453575 2017 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

rs7203560 in NPRL3 gene and Mean corpuscular hemoglobin concentration determination PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

rs117747069 in NPRL3 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

rs60992881 in NPRL3 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs183350 in NPRL3 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.