abnormal pupil morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the central circular aperture of the iris through which light rays enter the eye (Mammalian Phenotype Ontology, MP_0001317)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001317
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51 gene mutations causing the abnormal pupil morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ANKRD12 ankyrin repeat domain 12
B9D1 B9 protein domain 1
BMP4 bone morphogenetic protein 4
C1ORF198 chromosome 1 open reading frame 198
CD28 CD28 molecule
CHRM3 cholinergic receptor, muscarinic 3
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CLK1 CDC-like kinase 1
COL4A1 collagen, type IV, alpha 1
CYB561 cytochrome b561
EGLN3 egl-9 family hypoxia-inducible factor 3
EHD1 EH-domain containing 1
EMID1 EMI domain containing 1
FGF11 fibroblast growth factor 11
FLNA filamin A, alpha
FOXC1 forkhead box C1
FOXE3 forkhead box E3
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GRHL3 grainyhead-like 3 (Drosophila)
JAG1 jagged 1
JMJD1C jumonji domain containing 1C
KDM4C lysine (K)-specific demethylase 4C
KLHDC2 kelch domain containing 2
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LMX1B LIM homeobox transcription factor 1, beta
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MITF microphthalmia-associated transcription factor
MPI mannose phosphate isomerase
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NR1D2 nuclear receptor subfamily 1, group D, member 2
NRG1 neuregulin 1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NXN nucleoredoxin
PAX6 paired box 6
PDC phosducin
PHOX2B paired-like homeobox 2b
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
POU4F2 POU class 4 homeobox 2
RPE65 retinal pigment epithelium-specific protein 65kDa
SETMAR SET domain and mariner transposase fusion gene
SIRT6 sirtuin 6
SLX4 SLX4 structure-specific endonuclease subunit
SNIP1 Smad nuclear interacting protein 1
SPNS2 spinster homolog 2 (Drosophila)
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TMC8 transmembrane channel-like 8