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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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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
1 records shown · first 60Implication of HMOX1 and CCR5 genotypes on clinical phenotype of Egyptian patients with sickle cell anemia.
PMID 31030250 | DOI 10.1007/s00277-019-03697-9 · Annals of hematology · 2019 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | sickle cell anemia | “Implication of HMOX1 and CCR5 genotypes on clinical phenotype of Egyptian patients with sickle cell anemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs2071746 | “We aimed to estimate the prevalence of the HMOX1-413 A>T (rs2071746) and CCR5Δ32 (rs333) polymorphisms, and to assess their effect on SCD phenotype and HbF level among Egyptian patients.” | 0.90 | hgvs_regex_v1 |
| gene | HMOX1 | “Implication of HMOX1 and CCR5 genotypes on clinical phenotype of Egyptian patients with sickle cell anemia.” | 0.98 | hgnc_dict_v1 |
| gene | CCR5 | “Implication of HMOX1 and CCR5 genotypes on clinical phenotype of Egyptian patients with sickle cell anemia.” | 0.98 | hgnc_dict_v1 |