glossoptosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. (Human Phenotype Ontology, HP_0000162)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000162
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Genes

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

Symbol Name
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
EDN1 endothelin 1
EIF4A3 eukaryotic translation initiation factor 4A3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
IMPAD1 inositol monophosphatase domain containing 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
PLCB4 phospholipase C, beta 4
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
RBM10 RNA binding motif protein 10
SOX9 SRY (sex determining region Y)-box 9
TCOF1 Treacher Collins-Franceschetti syndrome 1