abnormal pupillary reflex Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description alterations or failure of the pupil to change in diameter as a reflex response to any stimulus (Mammalian Phenotype Ontology, MP_0002638)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002638
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Genes

17 gene mutations causing the abnormal pupillary reflex phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
EHD1 EH-domain containing 1
ELMOD1 ELMO/CED-12 domain containing 1
FGF10 fibroblast growth factor 10
FOXE3 forkhead box E3
FZD4 frizzled class receptor 4
LHFPL2 lipoma HMGIC fusion partner-like 2
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MITF microphthalmia-associated transcription factor
MYO10 myosin X
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OPN4 opsin 4
PANK2 pantothenate kinase 2
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PHOX2B paired-like homeobox 2b
RPE65 retinal pigment epithelium-specific protein 65kDa
RPL24 ribosomal protein L24
Funding