HP, haptoglobin, 3240

N. diseases: 464; N. variants: 9
Disease: ANHAPTOGLOBINEMIA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279786
Disease: ANHAPTOGLOBINEMIA
ANHAPTOGLOBINEMIA 		0.420 Biomarker disease BEFREE The haptoglobin (HP) gene deletion allele (HP(del)) is responsible for anhaptoglobinemia and a genetic risk factor for anaphylaxis reaction after transfusion due to production of the anti-HP antibody. 25212669 2015
CUI: C3279786
Disease: ANHAPTOGLOBINEMIA
ANHAPTOGLOBINEMIA 		0.420 GeneticVariation disease BEFREE Being homozygous for the Hp gene deletion (HP(del)) is the only known cause of congenital anhaptoglobinemia, and clinical diagnosis of HP(del) before transfusion is important to prevent anaphylactic shock. 20113448 2010
CUI: C3279786
Disease: ANHAPTOGLOBINEMIA
ANHAPTOGLOBINEMIA 		0.420 GeneticVariation disease UNIPROT A novel I247T missense mutation in the haptoglobin 2 beta-chain decreases the expression of the protein and is associated with ahaptoglobinemia. 14999562 2004
CUI: C3279786
Disease: ANHAPTOGLOBINEMIA
ANHAPTOGLOBINEMIA 		0.420 GeneticVariation disease CLINVAR