Birdshot Chorioretinopathy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia. (Orphanet Rare Disease Ontology, Orphanet_179)
External Link https://www.disgenet.org/browser/0/1/0/C1853959
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Genes

15 genes associated with the disease Birdshot Chorioretinopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ERAP1 endoplasmic reticulum aminopeptidase 1
ERAP2 endoplasmic reticulum aminopeptidase 2
GEM GTP binding protein overexpressed in skeletal muscle
HLA-A major histocompatibility complex, class I, A
HLA-C major histocompatibility complex, class I, C
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
IFNG interferon, gamma
IL17A interleukin 17A
KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
KIR2DS2 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
LNPEP leucyl/cystinyl aminopeptidase
POU2F1 POU class 2 homeobox 1
SLC22A1 solute carrier family 22 (organic cation transporter), member 1
TECPR2 tectonin beta-propeller repeat containing 2