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ANTXR1 and sickle cell disease are reported together in 2 articles.
Gene
ANTXR1
- HGNC
- HGNC:21014
4articles
4mentions
2variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
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
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 |
|---|---|---|---|---|
| gene | ANTXR1 | “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.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “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.” | 0.98 | phenotype_alias_lexicon_v2 |
| 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 |
ANTXR1 Intronic Variants Are Associated with Fetal Hemoglobin in the Arab-Indian Haplotype of Sickle Cell Disease.
PMID 30114697 | DOI 10.1159/000491688 · Acta haematologica · 2018 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ANTXR1 | “ANTXR1 Intronic Variants Are Associated with Fetal Hemoglobin in the Arab-Indian Haplotype of Sickle Cell Disease.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “ANTXR1 Intronic Variants Are Associated with Fetal Hemoglobin in the Arab-Indian Haplotype of Sickle Cell Disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | sickle cell anemia | “Disease severity of sickle cell anemia is highly variable, and it is commonly accepted that fetal hemoglobin (HbF) levels play a major role as an ameliorating factor.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs4527238 | “Here, we further elucidated the association of rs4527238 and rs35685045 of ANTXR1 genes in the context of HbF level variance in sickle cell anemia patients of the Arab-Indian haplotype.” | 0.90 | hgvs_regex_v1 |