Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy
0.030 Biomarker disease BEFREE Several large-scale genomic studies have identified association of members of this family of enzymes, most notably ERAP1 and ERAP2, with immune-mediated diseases including ankylosing spondylitis, psoriasis and birdshot chorioretinopathy. 30419264 2019
CUI: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy
0.030 Biomarker disease BEFREE The alterations in the A*29:02 peptidome suggest that the association of ERAP2 with BSCR is through its effects on peptide processing. 29769354 2018
CUI: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy
0.030 GeneticVariation disease BEFREE A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. 24957906 2014