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ATRX and thalassemia are reported together in 2 articles.
Gene
ATRX
- HGNC
- HGNC:886
13articles
13mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Thalassemia
- HPO
- HP:0001878
409articles
409mentions
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 the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia.
PMID 29619482 | PMCID PMC5938644 | DOI 10.15537/smj.2018.4.21360 · Saudi medical journal · 2018 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ATRX | “The coinheritance of HBB gene variations with ATRX, HBA1, HBA2, HBA12, AHSP, and KLF1 gene variations were observed to be common in the Saudi population.” | 0.98 | hgnc_dict_v1 |
| phenotype | thalassemia | “A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | HBB | “Beta-thalassemia is a genetic disorder that is caused by variations in the beta-hemoglobin (HBB) gene.” | 0.98 | hgnc_dict_v1 |
| gene | HBA1 | “The coinheritance of HBB gene variations with ATRX, HBA1, HBA2, HBA12, AHSP, and KLF1 gene variations were observed to be common in the Saudi population.” | 0.98 | hgnc_dict_v1 |
Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients.
PMID 25976463 | DOI 10.1016/j.bcmd.2015.03.008 · Blood cells, molecules & diseases · 2015 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ATRX | “Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients. α-Thalassemia X-linked mental retardation syndrome is a rare inherited intellectual disability disorder due to mutations in the ATRX gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | thalassemia | “Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients. α-Thalassemia X-linked mental retardation syndrome is a rare inherited intellectual disability disorder due to mutations in the ATRX gene.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients. α-Thalassemia X-linked mental retardation syndrome is a rare inherited intellectual disability disorder due to mutations in the ATRX gene.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Eastern Province | “In our previous study of the prevalence of β-thalassemia mutations in the Eastern Province of Saudi Arabia, we confirmed the widespread coinheritance of α-thalassemia mutation.” | 0.95 | saudi_context_rules_v1 |