glycogen storage disease i Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. (Human Disease Ontology, DOID_2749)
Similar Terms
Downloads & Tools


42 genes co-occuring with the disease glycogen storage disease i in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
G6PC glucose-6-phosphatase, catalytic subunit 2.8551
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 1.9094
PHKA2 phosphorylase kinase, alpha 2 (liver) 1.39783
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1.27737
GBE1 glucan (1,4-alpha-), branching enzyme 1 1.24776
PYGB phosphorylase, glycogen; brain 0.846259
PYGL phosphorylase, glycogen, liver 0.842982
GCG glucagon 0.833968
PYGM phosphorylase, glycogen, muscle 0.814693
PPAT phosphoribosyl pyrophosphate amidotransferase 0.745578
GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon 0.740299
MIR130B microRNA 130b 0.727333
PPA1 pyrophosphatase (inorganic) 1 0.699517
PC pyruvate carboxylase 0.686691
HNF1A HNF1 homeobox A 0.669538
IL6ST interleukin 6 signal transducer 0.594454
G6PC3 glucose 6 phosphatase, catalytic, 3 0.570329
RORA RAR-related orphan receptor A 0.55518
MIR214 microRNA 214 0.544318
LPL lipoprotein lipase 0.524202
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 0.51842
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 0.510344
INS insulin 0.495411
GALK1 galactokinase 1 0.484364
DLL1 delta-like 1 (Drosophila) 0.455601
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 0.369997
GK glycerol kinase 0.363347
MPV17 MpV17 mitochondrial inner membrane protein 0.354499
SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 0.335778
IGF2R insulin-like growth factor 2 receptor 0.31029
LATS1 large tumor suppressor kinase 1 0.286519
CHIT1 chitinase 1 (chitotriosidase) 0.28616
SDF4 stromal cell derived factor 4 0.274732
HAS1 hyaluronan synthase 1 0.273664
UMOD uromodulin 0.252422
GLS glutaminase 0.230063
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 0.224196
APOB apolipoprotein B 0.217012
GAA glucosidase, alpha; acid 0.172038
HPRT1 hypoxanthine phosphoribosyltransferase 1 0.169571
PPT1 palmitoyl-protein thioesterase 1 0.160761
INSR insulin receptor 0.158778