abnormal pupillary function Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007686
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Genes

9 genes associated with the abnormal pupillary function phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA2 actin, alpha 2, smooth muscle, aorta
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
MPZ myelin protein zero
NME1 NME/NM23 nucleoside diphosphate kinase 1
ORAI1 ORAI calcium release-activated calcium modulator 1
PHYH phytanoyl-CoA 2-hydroxylase
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SIX6 SIX homeobox 6
STIM1 stromal interaction molecule 1