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UGT1A1 and sickle cell disease are reported together in 2 articles.
Gene
UGT1A1
- HGNC
- HGNC:12530
12articles
12mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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 60Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.
PMID 41753033 | PMCID PMC12941110 | DOI 10.3390/jcm15041345 · Journal of clinical medicine · 2026 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | UGT1A1 | “Non-globin NCVs in the UGT1A1 promoter were also found to influence the severity measures in β-thal and SCD.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | HBG2 | “The first major group comprises cis-acting variants within globin gene clusters (HBG2 promoter XmnI polymorphism, HBB promoter mutations and α-globin enhancer variants), while the second major group comprises trans-acting quantitative trait loci (QTLs) (BCL11A and HBS1L-MYB loci).” | 0.98 | hgnc_dict_v1 |
| gene | HBB | “The first major group comprises cis-acting variants within globin gene clusters (HBG2 promoter XmnI polymorphism, HBB promoter mutations and α-globin enhancer variants), while the second major group comprises trans-acting quantitative trait loci (QTLs) (BCL11A and HBS1L-MYB loci).” | 0.98 | hgnc_dict_v1 |
UGT1A1 promoter polymorphism associated with serum bilirubin level in Saudi patients with sickle cell disease.
PMID 24060717 | PMCID PMC6078505 | DOI 10.5144/0256-4947.2013.372 · Annals of Saudi medicine · 2013 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | UGT1A1 | “UGT1A1 promoter polymorphism associated with serum bilirubin level in Saudi patients with sickle cell disease.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “UGT1A1 promoter polymorphism associated with serum bilirubin level in Saudi patients with sickle cell disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | G6PD | “Laboratory workup at steady state included complete blood count, reticulocytes, serum bilirubin, lactate dehydrogenase (LDH), G6PD level, and hemoglobin (Hb) electrophoresis.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “UGT1A1 promoter polymorphism associated with serum bilirubin level in Saudi patients with sickle cell disease. Modifiers of bilirubin level and gallstones in Saudi patients with SCD are not known. METHODS: A total of 223 SCD patients were enrolled. Co-inheritance of a-thalassemia reduces the risk of gallstones in Saudi patients with SCD.” | 0.95 | saudi_context_rules_v1 |