Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
About your search
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 60A phased SNP-based classification of sickle cell anemia HBB haplotypes.
PMID 28800727 | PMCID PMC5553663 | DOI 10.1186/s12864-017-4013-y · BMC genomics · 2017 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | sickle cell anemia | “A phased SNP-based classification of sickle cell anemia HBB haplotypes.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs3834466 | “Four SNPs (rs3834466, rs28440105, rs10128556, and rs968857) marking four different restriction enzyme sites unequivocally defined most haplotypes.” | 0.90 | hgvs_regex_v1 |
| gene | HBB | “A phased SNP-based classification of sickle cell anemia HBB haplotypes.” | 0.98 | hgnc_dict_v1 |
| variant | rs28440105 | “Four SNPs (rs3834466, rs28440105, rs10128556, and rs968857) marking four different restriction enzyme sites unequivocally defined most haplotypes.” | 0.90 | hgvs_regex_v1 |