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: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GermlineCausalMutation ORPHANET Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions. 24361300

2014
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GermlineCausalMutation ORPHANET Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. 21886666

2011
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C1858990
Disease: Beta Thalassemia, Dominant Inclusion Body Type
Beta Thalassemia, Dominant Inclusion Body Type 		0.700 GermlineCausalMutation ORPHANET Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. 21886666

2011
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GermlineCausalMutation ORPHANET The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter. 19050890

2009
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.500 GermlineCausalMutation ORPHANET Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. 21886666

2011
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0238159
Disease: Hemoglobin E disease
Hemoglobin E disease 		0.400 GermlineCausalMutation ORPHANET Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. 21886666

2011
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0472777
Disease: Hemoglobin E/beta thalassemia disease
Hemoglobin E/beta thalassemia disease 		0.400 GermlineCausalMutation ORPHANET Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. 21886666

2011
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0271985
Disease: Delta-Beta Thalassemia
Delta-Beta Thalassemia 		0.400 GermlineCausalMutation ORPHANET Molecular characterization of delta beta-thalassemia and hereditary persistence of fetal hemoglobin in the Indian population. 18932066

2008
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: C0019021
Disease: Hemoglobin C Disease
Hemoglobin C Disease 		0.300 GermlineCausalMutation ORPHANET Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. 21886666

2011
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
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C3665425
Disease: Hemoglobin M Disease
Hemoglobin M Disease 		0.300 GermlineCausalMutation ORPHANET Concise review: methemoglobinemia. 8416301

1993