short palpebral fissure Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. (Human Phenotype Ontology, HP_0012745)
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22 genes associated with the short palpebral fissure phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CEP57 centrosomal protein 57kDa
DCHS1 dachsous cadherin-related 1
DOK7 docking protein 7
FAT4 FAT atypical cadherin 4
GJA1 gap junction protein, alpha 1, 43kDa
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
LIFR leukemia inhibitory factor receptor alpha
LMNA lamin A/C
MOGS mannosyl-oligosaccharide glucosidase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
ORC1 origin recognition complex, subunit 1
RAPSN receptor-associated protein of the synapse
RBM10 RNA binding motif protein 10
RBPJ recombination signal binding protein for immunoglobulin kappa J region
SLX4 SLX4 structure-specific endonuclease subunit
SMOC1 SPARC related modular calcium binding 1
SOX9 SRY (sex determining region Y)-box 9
STAC3 SH3 and cysteine rich domain 3
TBX1 T-box 1
TBX15 T-box 15
THOC6 THO complex 6
ZMPSTE24 zinc metallopeptidase STE24