lower 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 lower eyelid. (Human Phenotype Ontology, HP_0000652)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000652
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Genes

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

Symbol Name
POLR1C polymerase (RNA) I polypeptide C, 30kDa
SF3B4 splicing factor 3b, subunit 4, 49kDa
TCOF1 Treacher Collins-Franceschetti syndrome 1