horizontal nystagmus Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Nystagmus consisting of horizontal to-and-fro eye movements. (Human Phenotype Ontology, HP_0000666)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000666
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20 genes associated with the horizontal nystagmus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
BEAN1 brain expressed, associated with NEDD4, 1
CNGB3 cyclic nucleotide gated channel beta 3
DNM1L dynamin 1-like
FRMD7 FERM domain containing 7
GBA glucosidase, beta, acid
GPR143 G protein-coupled receptor 143
GRM1 glutamate receptor, metabotropic 1
HARS histidyl-tRNA synthetase
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KIF1C kinesin family member 1C
LARGE like-glycosyltransferase
LRP5 low density lipoprotein receptor-related protein 5
MARS2 methionyl-tRNA synthetase 2, mitochondrial
OPA1 optic atrophy 1 (autosomal dominant)
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
SNIP1 Smad nuclear interacting protein 1
TMEM126A transmembrane protein 126A