muscle stiffness Gene Set
Genes
17 genes associated with the muscle stiffness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
|
|
CAV3
|
caveolin 3
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
KBTBD13
|
kelch repeat and BTB (POZ) domain containing 13
|
|
LDHA
|
lactate dehydrogenase A
|
|
MYOT
|
myotilin
|
|
PHKA1
|
phosphorylase kinase, alpha 1 (muscle)
|
|
PTRF
|
polymerase I and transcript release factor
|
|
REEP2
|
receptor accessory protein 2
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SLC16A1
|
solute carrier family 16 (monocarboxylate transporter), member 1
|
|
SLC6A5
|
solute carrier family 6 (neurotransmitter transporter), member 5
|
|
STIM1
|
stromal interaction molecule 1
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
