optic nerve hypoplasia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Underdevelopment of the optic nerve. (Human Phenotype Ontology, HP_0000609)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006221
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12 gene mutations causing the optic nerve hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATOH7 atonal homolog 7 (Drosophila)
COL4A1 collagen, type IV, alpha 1
FKRP fukutin related protein
GNPAT glyceronephosphate O-acyltransferase
KIF14 kinesin family member 14
POU4F2 POU class 4 homeobox 2
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PXDN peroxidasin
RPL24 ribosomal protein L24
SMOC1 SPARC related modular calcium binding 1
SOX2 SRY (sex determining region Y)-box 2
TP53 tumor protein p53