mydriasis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal dilatation of the iris. (Human Phenotype Ontology, HP_0011499)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002546
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Genes

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

Symbol Name
BMP4 bone morphogenetic protein 4
CHRM3 cholinergic receptor, muscarinic 3
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
EHD1 EH-domain containing 1
FLNA filamin A, alpha
FOXC1 forkhead box C1
JMJD1C jumonji domain containing 1C
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
MITF microphthalmia-associated transcription factor
NRG1 neuregulin 1
NXN nucleoredoxin
PAX6 paired box 6
PDC phosducin
PHOX2B paired-like homeobox 2b
RPE65 retinal pigment epithelium-specific protein 65kDa