DTNBP1, dystrobrevin binding protein 1, 84062

N. diseases: 93; N. variants: 22
Disease: Hantavirus Infections ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		0.030 GeneticVariation group BEFREE In addition, mutation of human Dysbindin causes HPS type 7. 15102850 2004
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		0.030 Biomarker group BEFREE Seven genes cause HPS in humans (HPS1-HPS7) and at least 15 nonallelic mutations cause HPS in mice. 15265785 2004
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		0.030 Biomarker group BEFREE These findings show that BLOC-1 is important in producing the HPS phenotype in humans, indicate that dysbindin has a role in the biogenesis of lysosome-related organelles and identify unexpected interactions between components of DPC and BLOC-1. 12923531 2003