HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Our studies on the Saudi population from different regions of the country using Hinc II and Hind III showed that the beta-globin gene haplotype ++-++ is associated with a mild sickle cell anaemia, while ----+ is associated with the severe form of the disease. 8095305 1993
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell anemia (SCA, HBB glu6val) is characterized by multiple complications and a high degree of phenotypic variability: some subjects have only sporadic pain crises and few acute hospitalizations, while others experience multiple serious complications, high levels of morbidity, and accelerated mortality [1]. 21264913 2011
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE We used prime editing in human cells to correct, efficiently and with few byproducts, the primary genetic causes of sickle cell disease (requiring a transversion in HBB) and Tay-Sachs disease (requiring a deletion in HEXA); to install a protective transversion in PRNP; and to insert various tags and epitopes precisely into target loci. 31634902 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Here we describe the synthesis of TFOs designed to target a site in the human beta-globin gene, which is the locus for mutations that underlie the beta-globinopathies, including sickle cell anemia. 16460044 2006
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE SCD-corrected hiPSC lines showed gene conversion of the mutated βS to the wild-type βA in one of the HBB alleles, while the other allele remained a mutant phenotype. 25245091 2014
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Hematological effects of atypical and Cameroon beta-globin gene haplotypes in adult sickle cell anemia. 9766796 1998
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is a genetic disease caused by mutations in the beta globin gene, and inflammation plays a key role in driving many aspects of disease pathology. 28760671 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease UNIPROT Crystal structure of sickle-cell deoxyhemoglobin at 5 A resolution. 1195378 1975
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is the best known haemoglobinopathy, caused by a mutation substituting valina for glutamic acid at position 6 of the beta-globin chain of adult hemoglobin A, resulting in hemoglobin S (HbS). 30843001 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE New variants in beta globin gene among the Palestinian refugees with sickle cell disease in Lebanon. 30520510 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is a group of inherited blood disorders caused by mutations in the human β-globin gene, leading to the synthesis of abnormal hemoglobin S, chronic hemolysis, and oxidative stress. 30674214 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle Cell Disease (SCD) is a painful, lifelong hemoglobinopathy inherited as a missense point mutation in the hemoglobin (Hb) beta-globin gene. 28378932 2017
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE We hypothesized that siblings with sickle cell disease are likely to share the same parental beta-like globin gene clusters with their cis-acting regulatory sequences and therefore, if regulation of this response is linked to the beta-globin gene cluster, might have concordant HbF responses to HU. 12555216 2003
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes. 28500860 2017
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 Biomarker disease BEFREE The molecular defect in sickle cell disease resides in the beta globin gene, with consequent defects in erythrocytes only, suggesting that the vascular occlusion and vasomotor instability which characterize this disease are the result of interactions between abnormal sickle erythrocytes and cells of the blood vessel wall. 7635951 1995
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE For over 100 years, clinicians and scientists have been unravelling the consequences of the A to T substitution in the β-globin gene that produces haemoglobin S, which leads to the systemic manifestations of sickle cell disease (SCD), including vaso-occlusion, anaemia, haemolysis, organ injury and pain. 30514970 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell anemia (SCA) is caused by a point mutation in the β-globin gene that leads to devastating downstream consequences including chronic hemolytic anemia, episodic vascular occlusion, and cumulative organ damage resulting in death. 31076408 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 Biomarker disease CTD_human Loss of NRF2 function exacerbates the pathophysiology of sickle cell disease in a transgenic mouse model. 29255069 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Chronic inflammatory state in sickle cell anemia patients is associated with HBB(*)S haplotype. 24290434 2014
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 CausalMutation disease CLINVAR Prevalence of sickle cell disease in a pediatric population suffering from severe infections: a Congolese experience. 25023084 2014
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is caused by a mutation in both beta globin genes, resulting in chronic hemolysis and multiorgan disease that ultimately leads to premature death. 23190149 2013
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is caused by genetic defects in the β-globin chain. 26296885 2015
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions. 24361300 2014
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 Biomarker disease BEFREE Treatment of sickle cell anemia with 5-azacytidine results in increased fetal hemoglobin production and is associated with nonrandom hypomethylation of DNA around the gamma-delta-beta-globin gene complex. 6192443 1983
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is a hematologic disorder caused by a missense mutation in the adult β-globin gene. 22042865 2011