Type	Entity	Source evidence	Confidence	Extractor
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
phenotype	thalassemia	“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	BCL11A	“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

PMID 32190157 | PMCID PMC7069418 | DOI 10.5114/aoms.2019.84825 · Archives of medical science : AMS · 2020 · 12 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	HBB	“INTRODUCTION: Abnormality in HBB results in an inherited recessive blood disorder, which can be caused by variants at the transcriptional or translational level affecting the stability and the production of the HBB chain.”	0.98	hgnc_dict_v1
phenotype	thalassemia	“The identified β-globin mutations will strengthen the genetic reference that could aid in characterizing mutations that are associated with phenotype of thalassemia in a specific region.”	0.98	phenotype_alias_lexicon_v2
gene	HBA1	“MATERIAL AND METHODS: Direct sequence of β-globin HBB gene, and alpha-globin HBA1 and HBA2 genes was performed on a total of 545 blood samples (transfusion-dependent: 215, 106 men and 109 women; normal healthy subjects: 330, 197 men and 133 women) collected from Saudi Arabian participants in the Eastern region.”	0.98	hgnc_dict_v1
gene	HBA2	“MATERIAL AND METHODS: Direct sequence of β-globin HBB gene, and alpha-globin HBA1 and HBA2 genes was performed on a total of 545 blood samples (transfusion-dependent: 215, 106 men and 109 women; normal healthy subjects: 330, 197 men and 133 women) collected from Saudi Arabian participants in the Eastern region.”	0.98	hgnc_dict_v1

PMID 32912325 | PMCID PMC7488347 | DOI 10.1186/s13287-020-01876-4 · Stem cell research & therapy · 2020 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	HBB	“BACKGROUND: β-Thalassemias represent a group of genetic disorders caused by human hemoglobin beta (HBB) gene mutations.”	0.98	hgnc_dict_v1
phenotype	thalassemia	“CRISPR-mediated gene modification of hematopoietic stem cells with beta-thalassemia IVS-1-110 mutation.”	0.93	phenotype_alias_lexicon_v2
gene	CD34	“METHODS AND RESULTS: We successfully isolated CD34+ cells from peripheral blood of β-thalassemia patients with IVS-1-110 mutation.”	0.98	hgnc_dict_v1
variant	IVS-1-110	“CRISPR-mediated gene modification of hematopoietic stem cells with beta-thalassemia IVS-1-110 mutation.”	0.82	literature_variant_regex_v2

PMID 31275994 | PMCID PMC6582885 | DOI 10.1155/2019/9210841 · BioMed research international · 2019 · 2 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	HBB	“Most of the defects in hemoglobin arise directly from the mutations in the structural β-globin gene (HBB).”	0.98	hgnc_dict_v1
phenotype	thalassemia	“Beta-thalassemia is described as a group of hereditary blood disorders characterized by abnormalities in the synthesis of beta chains of hemoglobin.”	0.93	phenotype_alias_lexicon_v2

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	HBB	“Beta-thalassemia is a genetic disorder that is caused by variations in the beta-hemoglobin (HBB) gene.”	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	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
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

PMID 26076396 | DOI 10.3109/03630269.2015.1053489 · Hemoglobin · 2015 · 3 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	HBB	“There were 41 patients, made up of 20 with β-thalassemia intermedia (β-TI), 18 with Hb H (β4) disease and three with Hb E (HBB: c.79G > A)-β-thalassemia (Hb E-β-thal); their ages ranged from 3 to 36 years (mean 12.5 ± 7.7).”	0.98	hgnc_dict_v1
phenotype	thalassemia	“Clinical and Molecular Characteristics of Non-Transfusion-Dependent Thalassemia in Kuwait.”	0.98	phenotype_alias_lexicon_v2
population	Saudi Arabia	“There were 41 patients, made up of 20 with β-thalassemia intermedia (β-TI), 18 with Hb H (β4) disease and three with Hb E (HBB: c.79G > A)-β-thalassemia (Hb E-β-thal); their ages ranged from 3 to 36 years (mean 12.5 ± 7.7). The most common mutations among the β-TI patients were IVS-II-1 (G > A) and IVS-I-6 (T > C), while among the Hb H patients, the Saudi α2-globin gene polyadenylation (polyA) (AATAAA > AATAAG) mutation was responsible for all cases either as homozygotes (61.1%) or compound heterozygotes with the α-thal-2 (-α(3.7)) allele (33.3%).”	0.95	saudi_context_rules_v1