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: C0032461
Disease: Polycythemia
Polycythemia
0.300 Biomarker disease CTD_human Hemoglobin Palmerston North beta 23 (B5) Val replaced by Phe. A new variant identified in a patient with polycythemia. 7161106 1982
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.300 Biomarker disease CTD_human Polycythemia produced by hemoglobin Osler (beta-145 (HC2) Tyr yields Asp). 1117598 1975