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3 records shown · first 60Associations between BCL11A and HBS1L-MYB polymorphisms and thalassemia risk.
PMID 39534793 | PMCID PMC11554897 | DOI 10.1016/j.jtumed.2024.10.004 · Journal of Taibah University Medical Sciences · 2024 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1427407 | “OBJECTIVES: This study investigated the associations of the rs4671393, rs1427407, and rs11886868 genetic variants of the BCL11A gene and the rs9399137 variant of the HBS1L-MYB gene with thalassemia in patients from the population of Punjab, Pakistan.” | 0.90 | hgvs_regex_v1 |
| gene | BCL11A | “Associations between BCL11A and HBS1L-MYB polymorphisms and thalassemia risk.” | 0.98 | hgnc_dict_v1 |
| phenotype | thalassemia | “Associations between BCL11A and HBS1L-MYB polymorphisms and thalassemia risk.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs4671393 | “OBJECTIVES: This study investigated the associations of the rs4671393, rs1427407, and rs11886868 genetic variants of the BCL11A gene and the rs9399137 variant of the HBS1L-MYB gene with thalassemia in patients from the population of Punjab, Pakistan.” | 0.90 | hgvs_regex_v1 |
BCL11A rs1427407 Genotypes in Sickle Cell Anemia Patients Undergo to Stroke Problems in Sudan.
PMID 30563311 | PMCID PMC6351796 | DOI 10.4082/kjfm.17.0144 · Korean journal of family medicine · 2019 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1427407 | “BCL11A rs1427407 Genotypes in Sickle Cell Anemia Patients Undergo to Stroke Problems in Sudan.” | 0.90 | hgvs_regex_v1 |
| gene | BCL11A | “BCL11A rs1427407 Genotypes in Sickle Cell Anemia Patients Undergo to Stroke Problems in Sudan.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell anemia | “BCL11A rs1427407 Genotypes in Sickle Cell Anemia Patients Undergo to Stroke Problems in Sudan.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | stroke | “BCL11A rs1427407 Genotypes in Sickle Cell Anemia Patients Undergo to Stroke Problems in Sudan.” | 0.98 | phenotype_alias_lexicon_v2 |
BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia.
PMID 25703683 | PMCID PMC4341902 | DOI 10.1016/j.bcmd.2015.01.001 · Blood cells, molecules & diseases · 2015 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1427407 | “Four SNPs (rs1427407, rs6706648, rs6738440, and rs7606173) and their haplotypes were consistently associated with HbF levels.” | 0.90 | hgvs_regex_v1 |
| gene | BCL11A | “BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell anemia | “BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Western Province | “METHODS AND RESULTS: Six BCL112A enhancer SNPs and their haplotypes were studied in Saudi Arabs from the Eastern Province and Indian patients with AI haplotype (HbF ~20%), African Americans (HbF ~7%), and Saudi Arabs from the Southwestern Province (HbF ~12%). The distributions of haplotypes differ in the 3 cohorts but not their genetic effects: the haplotype TCAG was associated with the lowest HbF level and the haplotype GTAC was associated with the highest HbF level and differences in HbF levels between carriers of these haplotypes in all cohorts were approximately 6%.” | 0.95 | saudi_context_rules_v1 |