esotropia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Esotropia is a strabismus in which the eye turns inward toward the nose. (Human Disease Ontology, DOID_9840)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000565
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Genes

32 genes associated with the esotropia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAT3 adenosine deaminase, tRNA-specific 3
ADGRG1 adhesion G protein-coupled receptor G1
AHDC1 AT hook, DNA binding motif, containing 1
ARHGAP31 Rho GTPase activating protein 31
ATOH7 atonal homolog 7 (Drosophila)
B3GAT3 beta-1,3-glucuronyltransferase 3
CHMP1A charged multivesicular body protein 1A
CLP1 cleavage and polyadenylation factor I subunit 1
COG8 component of oligomeric golgi complex 8
COL11A1 collagen, type XI, alpha 1
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
GBA glucosidase, beta, acid
GLRB glycine receptor, beta
GRM1 glutamate receptor, metabotropic 1
HMGB3 high mobility group box 3
HOXB1 homeobox B1
KIAA2022 KIAA2022
KIF21A kinesin family member 21A
MAGEL2 melanoma antigen family L2
MBD5 methyl-CpG binding domain protein 5
NDN necdin, melanoma antigen (MAGE) family member
PEX5 peroxisomal biogenesis factor 5
PMM2 phosphomannomutase 2
SEC23A Sec23 homolog A (S. cerevisiae)
SLC38A8 solute carrier family 38, member 8
SNRPN small nuclear ribonucleoprotein polypeptide N
SOBP sine oculis binding protein homolog (Drosophila)
SOST sclerostin
TBX1 T-box 1
TMEM216 transmembrane protein 216
ZEB2 zinc finger E-box binding homeobox 2
ZNF592 zinc finger protein 592