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: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1
0.320 GeneticVariation disease BEFREE Direct sequencing analyses were performed on six genes associated with hereditary erythrocytosis [HBB, exon 2 and exon 3 of HBA2, VHL, EGLN1 (previously PHD2), exon 12 of EPAS1 (previously HIF2A), and exons 5-8 of EPOR]. 24482100 2014
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1
0.320 GeneticVariation disease BEFREE Familial polycythemia caused by a novel mutation in the beta globin gene: essential role of P50 in evaluation of familial polycythemia. 17952198 2007
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1
0.320 Biomarker disease GENOMICS_ENGLAND Hemoglobins with high oxygen affinity leading to erythrocytosis. New variants and new concepts. 15921161 2005