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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 60Molecular Detection of Hemoglobin O-Arab in the Sudanese Population.
PMID 37554704 | PMCID PMC10406112 | DOI 10.2147/IJGM.S421140 · International journal of general medicine · 2023 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | sickle cell anemia | “Sickle cell anemia (SCA) is when the patient has beta-globin gene variant (Hb S variant).” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Glu122Lys | “RESULTS: The final study's main results revealed the presence of HB O-Arab genetic mutations among Sudanese Sickle cell disease patients, which estimated to be (5%) co-inherited mutations among our study population (Hb-O Arab; (HBB):c.364G>A (p.Glu122Lys)).” | 0.95 | hgvs_regex_v1 |
| gene | HBB | “RESULTS: The final study's main results revealed the presence of HB O-Arab genetic mutations among Sudanese Sickle cell disease patients, which estimated to be (5%) co-inherited mutations among our study population (Hb-O Arab; (HBB):c.364G>A (p.Glu122Lys)).” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “BACKGROUND AND PURPOSE: Sickle cell disease (SCD) is an inherited hemoglobin disease affecting the red cells and causing hemolytic anemia.” | 0.98 | phenotype_alias_lexicon_v2 |