limb hypertonia Gene Set
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)
|