Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy
0.340 Biomarker disease BEFREE Allele-specific Alterations in the Peptidome Underlie the Joint Association of HLA-A*29:02 and Endoplasmic Reticulum Aminopeptidase 2 (ERAP2) with Birdshot Chorioretinopathy. 29769354 2018
CUI: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy
0.340 GeneticVariation disease BEFREE A more detailed analysis of this signal evidenced a strong association between the classical allele HLA-A*2902 and birdshot chorioretinopathy (p=3.21E-35, OR=50.95). 27609017 2017
CUI: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy
0.340 Biomarker disease BEFREE Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) Polymorphism Relevant to Inflammatory Disease Shapes the Peptidome of the Birdshot Chorioretinopathy-Associated HLA-A*29:02 Antigen. 25892735 2015
CUI: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy
0.340 SusceptibilityMutation disease ORPHANET HLA-A29-Positive Uveitis: Birdshot Chorioretinopathy, What Else? 24474930 2013
CUI: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy
0.340 Biomarker disease BEFREE KIR-HLA pairs implicated for weak inhibition (KIR2DL2/3+HLA-C1 and KIR3DL1+HLA-Bw4(T80)) in combination with activating KIR genes associated with autoimmunity (KIR2DS2, 2DS3 and 2DS4) augment the risk of developing BCR in HLA-A*29-positive individuals. 18340360 2008