Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.100 GeneticVariation disease BEFREE We calculated CBD prevalences from allele-specific DNA sequences of 853 workers for Human Leukocyte Antigen (HLA)-DPB1 genotypes and groups characterized by number of E69-containing alleles and by calculated surface electronegativity of HLA-DPB1. 27414009 2016
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.100 GeneticVariation disease BEFREE Multiple epidemiologic studies demonstrate associations between chronic beryllium disease (CBD), beryllium sensitization (BeS), and HLA-DPB1 alleles with a glutamic acid residue at position 69 (E69). 22972925 2012
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.100 Biomarker disease BEFREE Because inbred strains of mice have not provided good models of CBD to date, three strains of HLA-DPB1 transgenic mice in an FVB/N background were developed; each contains a single allele of HLA-DPB1 that confers a different magnitude of risk for chronic beryllium disease: HLA-DPB1*0401 (OR approximately 0.2), HLA-DPB1*0201 (OR approximately 3), and HLA-DPB1*1701 (OR approximately 46). 19589099 2009
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.100 Biomarker disease BEFREE In conclusion, both DRB1*13 and rs3117099TT homozygosity are associated with CBD in *Glu69-negative subjects, while DPB1*Glu69 is associated with CBD and BeS compared with Be-exp. 17927685 2007
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.100 Biomarker disease BEFREE Although a glutamic acid in position 69 of the human leukocyte antigen-DP beta chain (HLA-DPB1-Glu69) is associated with the development of CBD, it cannot fully explain susceptibility. 15750822 2005
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.100 AlteredExpression disease BEFREE This study identifies HLA-DP as a regulatory component in the activation of T cell receptors on Be-specific CD4+ T cells from CBD patients resulting in proliferation and proinflammatory cytokine production. 14975942 2004
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.100 GeneticVariation disease BEFREE Further, workers with CBD and sensitization were more likely to be homozygous HLA-DPB1(Glu69) compared to workers without disease or sensitization (P < 0.001). 15273960 2004
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.100 GeneticVariation disease BEFREE A higher frequency of the DPB1 Glu(69) gene was found in CBD and BeS compared with the Be-nondiseased subjects, with odds ratios of 10.1 for CBD vs Be-nondiseased and 9.5 for BeS vs Be-nondiseased. 14662898 2003
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.100 GeneticVariation disease BEFREE In addition, HLA amino acid epitopes on HLA-DRB1 and -DQB1, in concert with or independently of HLA-DPB1-E69, may be associated with progression to CBD. 11897645 2002
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.100 GeneticVariation disease BEFREE This is the first direct evidence that HLA-DP genotype is linked to a phenotypic response that occurs in beryllium sensitization in the absence of clinical CBD. 11551429 2001
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.100 GeneticVariation disease BEFREE One described Human Leukocyte Antigen gene variant, HLA-DP beta 1*0201, contains a substitution of glutamate for lysine at position 69 that appears to have high sensitivity (approximately 94%) but low specificity (approximately 70%) with respect to CBD among individuals occupationally exposed to respirable beryllium. 10795342 2000
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.100 GeneticVariation disease BEFREE Whereas most Glu69 carriers from the control group had a DPB1 allele *0201 (68%), most Glu69 carriers from the CBD group had a non-*0201 DPB1 Glu69-carrying allele (84%). 10415070 1999
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.100 Biomarker disease BEFREE This suggests that HLA-DP has a role in conferring susceptibility and that residue 69 of HLA-DPB1 could be used in risk assessment for CBD. 8105536 1993