rs766432, BCL11A

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Fetal hemoglobin determination
CUI: C0200695
Disease: Fetal hemoglobin determination
0.800 GeneticVariation GWASCAT Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease. 27022141 2016
Fetal hemoglobin determination
CUI: C0200695
Disease: Fetal hemoglobin determination
0.800 GeneticVariation GWASDB Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans. 22936743 2012
Fetal hemoglobin determination
CUI: C0200695
Disease: Fetal hemoglobin determination
0.800 GeneticVariation GWASDB Recently, BCL11A (zinc-finger protein) was identified as a regulator of HbF, and the strongest association signals were observed either directly for rs766432 or for correlated single-nucleotide polymorphisms (SNPs). 21326311 2011
Fetal hemoglobin determination
CUI: C0200695
Disease: Fetal hemoglobin determination
0.800 GeneticVariation GWASCAT Recently, BCL11A (zinc-finger protein) was identified as a regulator of HbF, and the strongest association signals were observed either directly for rs766432 or for correlated single-nucleotide polymorphisms (SNPs). 21326311 2011
Fetal hemoglobin determination
CUI: C0200695
Disease: Fetal hemoglobin determination
0.800 GeneticVariation GWASDB Genome-wide association studies also validated a previously identified SNP (rs766432) in BCL11A, a gene known to affect fetal hemoglobin levels (P = 2.6E-21) and in Thailand and Hong Kong subjects. 20018918 2010
Fetal hemoglobin determination
CUI: C0200695
Disease: Fetal hemoglobin determination
0.800 GeneticVariation GWASCAT Genome-wide association studies also validated a previously identified SNP (rs766432) in BCL11A, a gene known to affect fetal hemoglobin levels (P = 2.6E-21) and in Thailand and Hong Kong subjects. 20018918 2010
Fetal hemoglobin determination
CUI: C0200695
Disease: Fetal hemoglobin determination
0.800 GeneticVariation GWASDB A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. 17767159 2007
Reticulocyte count (procedure)
CUI: C0206161
Disease: Reticulocyte count (procedure)
0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.700 GeneticVariation GWASCAT The genetics of hemoglobin A2 regulation in sickle cell anemia. 25042611 2014
Hemoglobin A2 measurement
CUI: C0474543
Disease: Hemoglobin A2 measurement
0.700 GeneticVariation GWASCAT The genetics of hemoglobin A2 regulation in sickle cell anemia. 25042611 2014
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.700 GeneticVariation GWASCAT Genetic determinants of haemolysis in sickle cell anaemia. 23406172 2013
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.700 GeneticVariation GWASCAT Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. 21326311 2011
Hemoglobin E disease
CUI: C0238159
Disease: Hemoglobin E disease
0.700 GeneticVariation GWASCAT A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. 20183929 2010
Thalassemia
CUI: C0039730
Disease: Thalassemia
0.010 GeneticVariation BEFREE To study the influence of the β globin locus control region (LCR) genotypic background on the phenotype modifying role of BCL11A polymorphisms, 100 cases of thalassemia, 48 homozygous for the A allele and 52 homozygous for the G allele at the 5'HS4-LCR palindromic polymorphic site were genotyped for two BCL11A single nucleotide polymorphisms (rs11886868 and rs766432) in the intronic region of this gene. 23541515 2013