Glossoptosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. (Human Phenotype Ontology, HP_0000162)
External Link https://www.disgenet.org/browser/0/1/0/C0267048
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Genes

25 genes associated with the disease Glossoptosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ASXL3 additional sex combs like transcriptional regulator 3
BTK Bruton agammaglobulinemia tyrosine kinase
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
EDN1 endothelin 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
IRF6 interferon regulatory factor 6
NFASC neurofascin
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
PEX16 peroxisomal biogenesis factor 16
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
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
SNRPB small nuclear ribonucleoprotein polypeptides B and B1
SOX9 SRY (sex determining region Y)-box 9
TCOF1 Treacher Collins-Franceschetti syndrome 1
TGDS TDP-glucose 4,6-dehydratase
TMEM8C transmembrane protein 8C
VAC14 Vac14 homolog (S. cerevisiae)