upper eyelid coloboma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A short discontinuity of the margin of the upper eyelid. (Human Phenotype Ontology, HP_0000636)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000636
Similar Terms
Downloads & Tools


5 genes associated with the upper eyelid coloboma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALX1 ALX homeobox 1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GRIP1 glutamate receptor interacting protein 1
TCOF1 Treacher Collins-Franceschetti syndrome 1