optic nerve coloboma Gene Set

Dataset MPO Gene-Phenotype 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://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010717
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Genes

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

Symbol Name
PAX2 paired box 2
RPL24 ribosomal protein L24
RYBP RING1 and YY1 binding protein