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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 disease
- HPO
- HP:0001878
- OMIM
- 603903
828articles
828mentions
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 60L-Selectin P213S and Integrin Alpha 2 C807T Genetic Polymorphisms in Pediatric Sickle Cell Disease Patients.
PMID 32433445 | DOI 10.1097/MPH.0000000000001839 · Journal of pediatric hematology/oncology · 2020 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | sickle cell disease | “L-Selectin P213S and Integrin Alpha 2 C807T Genetic Polymorphisms in Pediatric Sickle Cell Disease Patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | C807T | “L-Selectin P213S and Integrin Alpha 2 C807T Genetic Polymorphisms in Pediatric Sickle Cell Disease Patients.” | 0.82 | literature_variant_regex_v2 |
| gene | ITGA2 | “L-Selectin and integrin alpha 2 (ITGA2) are 2 adhesion molecules linked to vasculopathy and inflammation.” | 0.98 | hgnc_dict_v1 |
| variant | P213S | “L-Selectin P213S and Integrin Alpha 2 C807T Genetic Polymorphisms in Pediatric Sickle Cell Disease Patients.” | 0.82 | literature_variant_regex_v2 |