HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024535
Disease: Malaria, Falciparum
Malaria, Falciparum
0.330 Biomarker disease CTD_human Genetic variation in human HBB is associated with Plasmodium falciparum transmission. 20305663 2010
CUI: C0024535
Disease: Malaria, Falciparum
Malaria, Falciparum
0.330 Biomarker disease BEFREE The action of falciparum malaria on the human and chimpanzee genomes compared: absence of evidence for a genomic signature of malaria at HBB and G6PD in three subspecies of chimpanzee. 19631293 2009
CUI: C0024535
Disease: Malaria, Falciparum
Malaria, Falciparum
0.330 GeneticVariation disease BEFREE Hemoglobin E (HbE; beta26Glu --> Lys) is the most common variant of the beta-globin gene in Southeast Asia; it has been suggested that it confers resistance against Plasmodium falciparum malaria. 18787944 2008
CUI: C0024535
Disease: Malaria, Falciparum
Malaria, Falciparum
0.330 GeneticVariation disease BEFREE According to our model, the GPX1*2 allele has an epistatic effect on the HBB*A/*S genotype by lowering its protection against falciparum malaria. 10380369 1999