dysmetria Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. (Human Phenotype Ontology, HP_0001310)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001310
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Genes

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

Symbol Name
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABHD12 abhydrolase domain containing 12
AFG3L2 AFG3-like AAA ATPase 2
ATXN1 ataxin 1
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN7 ataxin 7
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
CAMTA1 calmodulin binding transcription activator 1
CAV1 caveolin 1, caveolae protein, 22kDa
FA2H fatty acid 2-hydroxylase
FMR1 fragile X mental retardation 1
GBA2 glucosidase, beta (bile acid) 2
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GRM1 glutamate receptor, metabotropic 1
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3
KIF1A kinesin family member 1A
KIF1C kinesin family member 1C
MARS2 methionyl-tRNA synthetase 2, mitochondrial
NEU1 sialidase 1 (lysosomal sialidase)
PDYN prodynorphin
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLP1 proteolipid protein 1
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PRICKLE1 prickle homolog 1 (Drosophila)
PRICKLE2 prickle homolog 2 (Drosophila)
PRKCG protein kinase C, gamma
PRNP prion protein
SACS sacsin molecular chaperone
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SFXN4 sideroflexin 4
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPTBN2 spectrin, beta, non-erythrocytic 2
TBP TATA box binding protein
TECPR2 tectonin beta-propeller repeat containing 2
TTC19 tetratricopeptide repeat domain 19
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VLDLR very low density lipoprotein receptor
WDR81 WD repeat domain 81