Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C1264000
Disease: Sickle cell-Hemoglobin O Arab disease
Sickle cell-Hemoglobin O Arab disease 		0.100 CausalMutation CLINVAR Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology. 24880717

2014
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C1264000
Disease: Sickle cell-Hemoglobin O Arab disease
Sickle cell-Hemoglobin O Arab disease 		0.100 CausalMutation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C1264000
Disease: Sickle cell-Hemoglobin O Arab disease
Sickle cell-Hemoglobin O Arab disease 		0.100 CausalMutation CLINVAR Characterization of syntenin, a syndecan-binding PDZ protein, as a component of cell adhesion sites and microfilaments. 11179419

2001
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C1264000
Disease: Sickle cell-Hemoglobin O Arab disease
Sickle cell-Hemoglobin O Arab disease 		0.100 CausalMutation CLINVAR HbS-oman heterozygote: a new dominant sickle syndrome. 9834244

1998
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C1264000
Disease: Sickle cell-Hemoglobin O Arab disease
Sickle cell-Hemoglobin O Arab disease 		0.100 CausalMutation CLINVAR Hemoglobin variants and activity of the (K+Cl-) cotransport system in human erythrocytes. 1732017

1992
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C1264000
Disease: Sickle cell-Hemoglobin O Arab disease
Sickle cell-Hemoglobin O Arab disease 		0.100 CausalMutation CLINVAR The interaction of hemoglobin O Arab with Hb S and beta+ thalassemia among Israeli Arabs. 3859465

1985
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C1264000
Disease: Sickle cell-Hemoglobin O Arab disease
Sickle cell-Hemoglobin O Arab disease 		0.100 CausalMutation CLINVAR Twelve families with Hb O Arab in the Burgas district of Bulgaria. Observations on sixteen examples of Hb O Arab-beta (0) thalassaemia. 1112610

1975
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C1264000
Disease: Sickle cell-Hemoglobin O Arab disease
Sickle cell-Hemoglobin O Arab disease 		0.100 CausalMutation CLINVAR Hemoglobin O arab in four negro families and its interaction with hemoglobin S and hemoglobin C. 5481775

1970