optic nerve coloboma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description congenital defect of the optic nerve in which some part of the structure is absent (Mammalian Phenotype Ontology, MP_0010717)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000588
Similar Terms
Downloads & Tools


17 genes associated with the optic nerve coloboma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ACTG1 actin gamma 1
BCOR BCL6 corepressor
CC2D2A coiled-coil and C2 domain containing 2A
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
IGBP1 immunoglobulin (CD79A) binding protein 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NIPBL Nipped-B homolog (Drosophila)
PAX2 paired box 2
PAX6 paired box 6
PTCH1 patched 1
SALL4 spalt-like transcription factor 4
SH2B1 SH2B adaptor protein 1
TMEM216 transmembrane protein 216
TMEM67 transmembrane protein 67