limb hypertonia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002509
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Genes

10 genes associated with the limb hypertonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADCY5 adenylate cyclase 5
ATRX alpha thalassemia/mental retardation syndrome X-linked
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
GCH1 GTP cyclohydrolase 1
KDM5C lysine (K)-specific demethylase 5C
LBR lamin B receptor
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative)