Ankyloblepharon Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. (Human Phenotype Ontology, HP_0009755)
External Link https://www.disgenet.org/browser/0/1/0/C0339182
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Genes

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

Symbol Name
BCOR BCL6 corepressor
CKAP4 cytoskeleton-associated protein 4
DDB2 damage-specific DNA binding protein 2, 48kDa
DLX3 distal-less homeobox 3
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
FREM2 FRAS1 related extracellular matrix protein 2
IRF6 interferon regulatory factor 6
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
RAX retina and anterior neural fold homeobox
RIPK4 receptor-interacting serine-threonine kinase 4
RPE65 retinal pigment epithelium-specific protein 65kDa
TP63 tumor protein p63
UVRAG UV radiation resistance associated
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C