HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Disease: Methemoglobinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025637
Disease: Methemoglobinemia
Methemoglobinemia 		0.310 Biomarker disease BEFREE HBB mutations can be roughly divided into two categories: those that cause a dysfunctional protein (such as sickle cell disease but also including varied diseases caused by high-affinity hemoglobins, low-affinity hemoglobins, and methemoglobinemia) and those that cause the insufficient production of HBB protein (β-thalassemia). 29127682 2017
CUI: C0025637
Disease: Methemoglobinemia
Methemoglobinemia 		0.310 Biomarker disease CTD_human Congenital methemoglobinemia caused by Hb-MRatnagiri (beta-63CAT-->TAT, His-->Tyr) in an Indian family. 15929117 2005