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ANTXR1 and sickle cell anemia 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 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
2 records shown · first 60ANTXR1 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 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 |
| 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 |
| 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 |
A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia.
PMID 27501013 | PMCID PMC5072989 | DOI 10.1002/ajh.24527 · American journal of hematology · 2016 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ANTXR1 | “An intronic single nucleotide polymorphism (SNP) in ANTXR1, an anthrax toxin receptor (chromosome 2p13), was associated with HbF.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell anemia | “A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BCL11A | “ANTXR1 variants explained 10% of the HbF variability compared with 8% for BCL11A.” | 0.98 | hgnc_dict_v1 |
| gene | CD34 | “ANTXR1 was expressed at mRNA and protein levels in erythroid progenitors derived from induced pluripotent stem cells (iPSCs) and CD34+ cells.” | 0.98 | hgnc_dict_v1 |