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
Publications
2 records shown · first 60A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population.
PMID 41929524 | PMCID PMC13042357 | DOI 10.1155/humu/2418005 · Human mutation · 2026 · 16 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.20A>T | “In sickle cell disease, the HbS mutation (c.20A>T) is the most common, primarily linked to the Arab-Indian haplotype, whereas polymorphisms in BCL11A, HBS1L-MYB, and ANTXR1 influenced fetal hemoglobin levels.” | 0.95 | hgvs_regex_v1 |
| gene | HBB | “RESULTS: The β-globin (HBB) gene showed the greatest mutational diversity, with over 60 β-thalassemia variants identified.” | 0.98 | hgnc_dict_v1 |
| gene | HBA1 | “The α-globin genes (HBA1, HBA2, and the unique HBA12) were frequently involved in α-thalassemia, with the -α3.7 deletion predominating.” | 0.98 | hgnc_dict_v1 |
| gene | HBA2 | “The α-globin genes (HBA1, HBA2, and the unique HBA12) were frequently involved in α-thalassemia, with the -α3.7 deletion predominating.” | 0.98 | hgnc_dict_v1 |
α-Globin Genotypes Associated with Hb H Disease: A Report from Oman and a Review of the Literature from the Eastern Mediterranean Region.
PMID 32019385 | DOI 10.1080/03630269.2020.1720709 · Hemoglobin · 2020 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.20A>T | “Our cohort also included patients with combinations of αPA1 with other Hb variants: αPA1α/αPA1α with Hb S (HBB: c.20A>T) trait (n = 2), -α3.7/αPA1α (n = 2) and αcodon 19α (HBA2: c.56delG)/αPA1α (n = 1).” | 0.95 | hgvs_regex_v1 |
| gene | HBB | “Our cohort also included patients with combinations of αPA1 with other Hb variants: αPA1α/αPA1α with Hb S (HBB: c.20A>T) trait (n = 2), -α3.7/αPA1α (n = 2) and αcodon 19α (HBA2: c.56delG)/αPA1α (n = 1).” | 0.98 | hgnc_dict_v1 |
| gene | HBA2 | “Our cohort also included patients with combinations of αPA1 with other Hb variants: αPA1α/αPA1α with Hb S (HBB: c.20A>T) trait (n = 2), -α3.7/αPA1α (n = 2) and αcodon 19α (HBA2: c.56delG)/αPA1α (n = 1).” | 0.98 | hgnc_dict_v1 |
| population | Population | “A total of 52 patients (27 females and 25 males) with a mean age of 20.6 years (range 0.23-80.0) were molecularly confirmed to carry Hb H disease.” | 0.80 | saudi_context_rules_v1 |