facial hypotonia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). (Human Phenotype Ontology, HP_0000297)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000297
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Genes

4 genes associated with the facial hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
KDM5C lysine (K)-specific demethylase 5C
MECP2 methyl CpG binding protein 2
VPS13B vacuolar protein sorting 13 homolog B (yeast)
Funding