myopathic facies Gene Set
Genes
11 genes associated with the myopathic facies phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
DPM2
|
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
NEB
|
nebulin
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
TAZ
|
tafazzin
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
