rhabdomyolysis Gene Set
Genes
17 genes associated with the rhabdomyolysis 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
|
|
AMPD1
|
adenosine monophosphate deaminase 1
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
HADHA
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
|
|
HADHB
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
|
|
ISCU
|
iron-sulfur cluster assembly enzyme
|
|
LDHA
|
lactate dehydrogenase A
|
|
LPIN1
|
lipin 1
|
|
PGAM2
|
phosphoglycerate mutase 2 (muscle)
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PGM1
|
phosphoglucomutase 1
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SLC25A20
|
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
