Axenfeld-Rieger Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment. (Human Disease Ontology, DOID_14686)
External Link https://www.disgenet.org/browser/0/1/0/C3495488
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Genes

21 genes associated with the disease Axenfeld-Rieger Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
BARX2 BARX homeobox 2
COL4A1 collagen, type IV, alpha 1
DLX2 distal-less homeobox 2
EGF epidermal growth factor
FOXC1 forkhead box C1
FOXO6 forkhead box O6
GJA1 gap junction protein, alpha 1, 43kDa
GLI2 GLI family zinc finger 2
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
PAX2 paired box 2
PAX6 paired box 6
PITX2 paired-like homeodomain 2
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PRDM5 PR domain containing 5
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PRRT2 proline-rich transmembrane protein 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
SH3PXD2B SH3 and PX domains 2B
TGFA transforming growth factor, alpha