athetosis Gene Set

Dataset	HPO Gene-Disease Associations
Category	disease or phenotype associations
Type	phenotype
Description	Athetosis (from the Greek word for 'changeable' or 'unfixed') refers to an inability to sustain the muscles of the fingers, toes, tongue, or any other group of muscles in a fixed position. Instead, posture is interrupted by slow, purposeless involuntary movements. (Human Phenotype Ontology, HP_0002305)
External Link	http://compbio.charite.de/hpoweb/showterm?id=HP:0002305
Similar Terms
Downloads & Tools

Genes

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

Symbol	Name
ACO2	aconitase 2, mitochondrial
ALDH18A1	aldehyde dehydrogenase 18 family, member A1
AUH	AU RNA binding protein/enoyl-CoA hydratase
C10ORF2	chromosome 10 open reading frame 2
FOXG1	forkhead box G1
GNAO1	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
HCFC1	host cell factor C1
NDE1	nudE neurodevelopment protein 1
PDGFB	platelet-derived growth factor beta polypeptide
RNASET2	ribonuclease T2
SLC17A5	solute carrier family 17 (acidic sugar transporter), member 5
SLC20A2	solute carrier family 20 (phosphate transporter), member 2
SLC46A1	solute carrier family 46 (folate transporter), member 1
SMPD1	sphingomyelin phosphodiesterase 1, acid lysosomal
SUCLA2	succinate-CoA ligase, ADP-forming, beta subunit
TRAPPC11	trafficking protein particle complex 11
UQCRQ	ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa