coloboma Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. (Human Disease Ontology, DOID_12270)
External Link
Similar Terms
Downloads & Tools


24 gene mutations causing the coloboma phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ARHGAP35 Rho GTPase activating protein 35
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
FREM1 FRAS1 related extracellular matrix 1
GAS1 growth arrest-specific 1
GLCE glucuronic acid epimerase
GRHL2 grainyhead-like 2 (Drosophila)
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
IFT88 intraflagellar transport 88
JAG1 jagged 1
KDM2B lysine (K)-specific demethylase 2B
LRP6 low density lipoprotein receptor-related protein 6
MITF microphthalmia-associated transcription factor
MYO10 myosin X
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
PAX2 paired box 2
PAX6 paired box 6
PHACTR4 phosphatase and actin regulator 4
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
RPL24 ribosomal protein L24
RPS7 ribosomal protein S7
RYBP RING1 and YY1 binding protein
SMOC1 SPARC related modular calcium binding 1
VAX1 ventral anterior homeobox 1
VAX2 ventral anterior homeobox 2