Phthisis Bulbi Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. (Human Phenotype Ontology, HP_0000667)
External Link https://www.disgenet.org/browser/0/1/0/C0271007
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Genes

11 genes associated with the disease Phthisis Bulbi in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ATOH7 atonal homolog 7 (Drosophila)
COL18A1 collagen, type XVIII, alpha 1
HDAC8 histone deacetylase 8
KMT2A lysine (K)-specific methyltransferase 2A
LRP5 low density lipoprotein receptor-related protein 5
MARK3 MAP/microtubule affinity-regulating kinase 3
NIPBL Nipped-B homolog (Drosophila)
RAD21 RAD21 homolog (S. pombe)
SETD5 SET domain containing 5
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3