opisthotonus Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly. (Human Phenotype Ontology, HP_0002179)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002179
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Genes

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

Symbol Name
ACP2 acid phosphatase 2, lysosomal
ADSL adenylosuccinate lyase
ALG11 ALG11, alpha-1,2-mannosyltransferase
ASPA aspartoacylase
CRLF1 cytokine receptor-like factor 1
CYB5R3 cytochrome b5 reductase 3
GBA glucosidase, beta, acid
GCDH glutaryl-CoA dehydrogenase
GLYCTK glycerate kinase
HPRT1 hypoxanthine phosphoribosyltransferase 1
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
SETBP1 SET binding protein 1
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TUFM Tu translation elongation factor, mitochondrial
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)