uveal coloboma Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description congenital defect of the uvea in which some part of the structure is absent (Mammalian Phenotype Ontology, MP_0012533)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012533
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9 gene mutations causing the uveal coloboma phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
GLCE glucuronic acid epimerase
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
JAG1 jagged 1
MYO10 myosin X
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
PAX2 paired box 2
RPS7 ribosomal protein S7
SMOC1 SPARC related modular calcium binding 1