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Phenotype
Sickle cell anemia
- HPO
- HP:0001878
- OMIM
- 603903
336articles
336mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60BCL11A 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 |
|---|---|---|---|---|
| phenotype | sickle cell anemia | “BCL11A rs1427407 Genotypes in Sickle Cell Anemia Patients Undergo to Stroke Problems in Sudan.” | 0.98 | phenotype_alias_lexicon_v2 |
| 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 | 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 |
|---|---|---|---|---|
| phenotype | sickle cell anemia | “BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| 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 |
| 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 |