Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0272080
Disease: Hemoglobin D disease
Hemoglobin D disease 		0.300 GermlineCausalMutation ORPHANET Compound heterozygous hemoglobin d-punjab/hemoglobin d-iran: a novel hemoglobinopathy. 25332633

2014
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0272080
Disease: Hemoglobin D disease
Hemoglobin D disease 		0.300 GermlineCausalMutation 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