HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Disease: Hemoglobin D disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272080
Disease: Hemoglobin D disease
Hemoglobin D disease 		0.300 GermlineCausalMutation disease ORPHANET Compound heterozygous hemoglobin d-punjab/hemoglobin d-iran: a novel hemoglobinopathy. 25332633 2014
CUI: C0272080
Disease: Hemoglobin D disease
Hemoglobin D disease 		0.300 GermlineCausalMutation disease ORPHANET The beta-globin genotype E121Q/W15X (cd121GAA-->CAA/cd15TGG-->TGA) underlines Hb d/beta-(0) thalassaemia marked by domination of haemoglobin D. 11757720 2001