abnormal eyelid aperture Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the normal distance from one eyelid to the other, or closure of the eyes (Mammalian Phenotype Ontology, MP_0003671)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003671
Similar Terms
Downloads & Tools


39 gene mutations causing the abnormal eyelid aperture phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CDO1 cysteine dioxygenase type 1
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CLEC16A C-type lectin domain family 16, member A
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DLK1 delta-like 1 homolog (Drosophila)
EDA ectodysplasin A
EDARADD EDAR-associated death domain
EHD1 EH-domain containing 1
FGF10 fibroblast growth factor 10
FOXP3 forkhead box P3
FRAS1 Fraser extracellular matrix complex subunit 1
GAS1 growth arrest-specific 1
GRM1 glutamate receptor, metabotropic 1
IKZF2 IKAROS family zinc finger 2 (Helios)
IRX5 iroquois homeobox 5
KDM4B lysine (K)-specific demethylase 4B
KLHDC2 kelch domain containing 2
MSX2 msh homeobox 2
MYSM1 Myb-like, SWIRM and MPN domains 1
PITX3 paired-like homeodomain 3
PRKCH protein kinase C, eta
PRMT3 protein arginine methyltransferase 3
PTK7 protein tyrosine kinase 7 (inactive)
PTPN2 protein tyrosine phosphatase, non-receptor type 2
RARA retinoic acid receptor, alpha
RARB retinoic acid receptor, beta
RARG retinoic acid receptor, gamma
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SFN stratifin
SIRT1 sirtuin 1
SIRT6 sirtuin 6
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLX4 SLX4 structure-specific endonuclease subunit
SOAT1 sterol O-acyltransferase 1
SPNS2 spinster homolog 2 (Drosophila)
TGFA transforming growth factor, alpha
THBS1 thrombospondin 1
TMC8 transmembrane channel-like 8
TRPC4AP transient receptor potential cation channel, subfamily C, member 4 associated protein