myoglobinuria Gene Set
Genes
16 genes associated with the myoglobinuria 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
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
FKRP
|
fukutin related protein
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
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
|
|
PFKM
|
phosphofructokinase, muscle
|
|
PGAM2
|
phosphoglycerate mutase 2 (muscle)
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PHKA1
|
phosphorylase kinase, alpha 1 (muscle)
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
