glycogen storage disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. (Human Disease Ontology, DOID_2747)
Similar Terms
Downloads & Tools

Genes

21 genes involed in the disease glycogen storage disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
ALDOA aldolase A, fructose-bisphosphate
ENO3 enolase 3 (beta, muscle)
G6PC glucose-6-phosphatase, catalytic subunit
GAA glucosidase, alpha; acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GYG1 glycogenin 1
GYS2 glycogen synthase 2 (liver)
LAMP2 lysosomal-associated membrane protein 2
LDHA lactate dehydrogenase A
PFKM phosphofructokinase, muscle
PGAM2 phosphoglycerate mutase 2 (muscle)
PGM1 phosphoglucomutase 1
PHKA1 phosphorylase kinase, alpha 1 (muscle)
PHKA2 phosphorylase kinase, alpha 2 (liver)
PHKB phosphorylase kinase, beta
PHKG2 phosphorylase kinase, gamma 2 (testis)
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PYGL phosphorylase, glycogen, liver
PYGM phosphorylase, glycogen, muscle
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4