trismus Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Limitation in the ability to open the mouth. (Human Phenotype Ontology, HP_0000211)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000211
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Genes

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

Symbol Name
COL3A1 collagen, type III, alpha 1
EFTUD2 elongation factor Tu GTP binding domain containing 2
FERMT1 fermitin family member 1
GBA glucosidase, beta, acid
HSPG2 heparan sulfate proteoglycan 2
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
RIPK4 receptor-interacting serine-threonine kinase 4
SF3B4 splicing factor 3b, subunit 4, 49kDa
TCOF1 Treacher Collins-Franceschetti syndrome 1
TPM2 tropomyosin 2 (beta)