Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3043
Gene Symbol: HBB
HBB
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
Entrez Id: 3043
Gene Symbol: HBB
HBB
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
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 Biomarker disease BEFREE Sickle cell anemia is common in the Middle East and India where the HbS gene is sometimes associated with the Arab-Indian (AI) β-globin gene (HBB) cluster haplotype. 23465615 2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 Biomarker disease BEFREE Sickle cell anemia (SCA) is a genetic disorder of the β-globin gene. 24163393 2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) in Saudi patients from the Eastern Province is associated with the Arab-Indian (AI) HBB (β-globin gene) haplotype. 24224700 2014
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 GermlineCausalMutation disease ORPHANET Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions. 24361300 2014
Entrez Id: 3043
Gene Symbol: HBB
HBB
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
Entrez Id: 3043
Gene Symbol: HBB
HBB
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
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is characterized by a single point mutation in the seventh codon of the β-globin gene. 25733580 2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is caused by genetic defects in the β-globin chain. 26296885 2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is a group of inherited blood disorders that have in common a mutation in the sixth codon of the β-globin (HBB) gene on chromosome 11. 27022141 2016
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is a blood disease caused by a single nucleotide substitution (T > A) in the beta globin gene on chromosome 11. 27636225 2016
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is a recessive genetic disorder caused by a single-nucleotide polymorphism in the β-globin gene (HBB). 27733558 2016
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 GeneticVariation disease BEFREE Sickle cell disease is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes. 28094851 2017
Entrez Id: 3048
Gene Symbol: HBG2
HBG2
0.200 Biomarker disease BEFREE Sickle cell anemia (SCA) is a common hematological disorder among individuals of African descent in the United States; the disorder results in the production of abnormal hemoglobin. 28115816 2017
Entrez Id: 3043
Gene Symbol: HBB
HBB
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
Entrez Id: 3043
Gene Symbol: HBB
HBB
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
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is a hematologic disorder caused by a well-characterized point mutation in the β-globin gene. 28671346 2017
Entrez Id: 3043
Gene Symbol: HBB
HBB
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. 28672087 2017
Entrez Id: 3043
Gene Symbol: HBB
HBB
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
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is an inherited blood disorder caused by a β globin gene mutation of hemoglobin (HbS). 28770911 2017
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 GeneticVariation disease BEFREE Sickle cell anemia (SCA) is an autosomal recessive disorder caused by mutation in the β-globin gene. 28823762 2018
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) results from a point mutation in the β-globin gene forming hemoglobin S (HbS), which polymerizes in deoxygenated erythrocytes, triggering recurrent painful vaso-occlusive crises and chronic hemolytic anemia. 29046485 2017
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 Biomarker disease BEFREE Sickle cell disease (SCD) is an inherited disease of the beta globin gene. 29157167 2018
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is an autosomal recessive disease in which homozygosity for a single point mutation in the gene encoding the β-globin chain produces hemoglobin S molecules that polymerize within the erythrocyte during deoxygenation; the result is sustained hemolytic anemia and vaso-occlusive events. 29222288 2017