glycogen storage disease Gene Set

Dataset DISEASES Text-mining 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)
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Genes

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

Symbol Name Standardized Value
GAA glucosidase, alpha; acid 3.2781
G6PC glucose-6-phosphatase, catalytic subunit 3.16074
PYGM phosphorylase, glycogen, muscle 2.81652
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 2.63691
PYGL phosphorylase, glycogen, liver 2.60014
PYGB phosphorylase, glycogen; brain 2.57276
PHKA2 phosphorylase kinase, alpha 2 (liver) 2.22766
GBE1 glucan (1,4-alpha-), branching enzyme 1 2.22606
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 2.22606
PFKM phosphofructokinase, muscle 2.19776
AMPD1 adenosine monophosphate deaminase 1 1.87148
PHKB phosphorylase kinase, beta 1.77857
PHKG2 phosphorylase kinase, gamma 2 (testis) 1.73413
PHKA1 phosphorylase kinase, alpha 1 (muscle) 1.71453
GYG1 glycogenin 1 1.49218
PGAM2 phosphoglycerate mutase 2 (muscle) 1.46495
GYS1 glycogen synthase 1 (muscle) 1.40439
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 1.39127
SLC37A2 solute carrier family 37 (glucose-6-phosphate transporter), member 2 1.38123
LAMP2 lysosomal-associated membrane protein 2 1.33152
GCG glucagon 1.32847
SLC37A3 solute carrier family 37, member 3 1.30357
BPGM 2,3-bisphosphoglycerate mutase 1.2909
GANAB glucosidase, alpha; neutral AB 1.28828
SLC37A1 solute carrier family 37 (glucose-6-phosphate transporter), member 1 1.25776
PGAM1 phosphoglycerate mutase 1 (brain) 1.22215
GYS2 glycogen synthase 2 (liver) 1.21955
PHKG1 phosphorylase kinase, gamma 1 (muscle) 1.19834
G6PC3 glucose 6 phosphatase, catalytic, 3 1.13459
GANC glucosidase, alpha; neutral C 1.1009
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 1.06144
DNASE1L1 deoxyribonuclease I-like 1 1.01638
M6PR mannose-6-phosphate receptor (cation dependent) 0.95369
PRKAG3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit 0.88434
INS insulin 0.878605
PGK1 phosphoglycerate kinase 1 0.841753
HNF1A HNF1 homeobox A 0.820847
CPT2 carnitine palmitoyltransferase 2 0.815514
PFKP phosphofructokinase, platelet 0.784755
FBP1 fructose-1,6-bisphosphatase 1 0.733811
PGM1 phosphoglucomutase 1 0.723694
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1 0.72127
UGT3A2 UDP glycosyltransferase 3 family, polypeptide A2 0.708364
FBP2 fructose-1,6-bisphosphatase 2 0.691896
INSC inscuteable homolog (Drosophila) 0.685491
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 0.679898
GPRIN2 G protein regulated inducer of neurite outgrowth 2 0.661197
UGT2A1 UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 0.648138
NGLY1 N-glycanase 1 0.639857
UGT2A3 UDP glucuronosyltransferase 2 family, polypeptide A3 0.624535
UGT3A1 UDP glycosyltransferase 3 family, polypeptide A1 0.624143
ACPP acid phosphatase, prostate 0.606933
ACACB acetyl-CoA carboxylase beta 0.559062
CCDC40 coiled-coil domain containing 40 0.559062
PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 0.554791
PPA1 pyrophosphatase (inorganic) 1 0.544705
GALK1 galactokinase 1 0.542379
BTD biotinidase 0.540055
DMD dystrophin 0.529994
MGAM maltase-glucoamylase 0.514956
UGT2B28 UDP glucuronosyltransferase 2 family, polypeptide B28 0.514571
PLBD2 phospholipase B domain containing 2 0.500761
ENO3 enolase 3 (beta, muscle) 0.496175
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit 0.492359
GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 0.485505
SRSF4 serine/arginine-rich splicing factor 4 0.468441
DGUOK deoxyguanosine kinase 0.462394
ZFP64 ZFP64 zinc finger protein 0.452962
MB myoglobin 0.436778
NSUN2 NOP2/Sun RNA methyltransferase family, member 2 0.434524
PC pyruvate carboxylase 0.403811
LAMA2 laminin, alpha 2 0.401945
GYPE glycophorin E (MNS blood group) 0.392257
RBPMS RNA binding protein with multiple splicing 0.385193
ALB albumin 0.372958
OTC ornithine carbamoyltransferase 0.368888
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit 0.365562
PRMT6 protein arginine methyltransferase 6 0.362239
MATR3 matrin 3 0.359657
AMPD3 adenosine monophosphate deaminase 3 0.355604
SI sucrase-isomaltase (alpha-glucosidase) 0.354131
PRAMEF20 PRAME family member 20 0.352659
ACE angiotensin I converting enzyme 0.347144
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 0.346042
CAV3 caveolin 3 0.342006
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 0.337975
U2AF2 U2 small nuclear RNA auxiliary factor 2 0.334315
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 0.325916
IMMT inner membrane protein, mitochondrial 0.325552
GPAA1 glycosylphosphatidylinositol anchor attachment 1 0.315729
ALPPL2 alkaline phosphatase, placental-like 2 0.312102
ALPP alkaline phosphatase, placental 0.311739
ALPL alkaline phosphatase, liver/bone/kidney 0.311014
MSTN myostatin 0.302337
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 0.299452
ST6GALNAC1 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 0.296931
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 0.294053
GGT1 gamma-glutamyltransferase 1 0.282582
CS citrate synthase 0.263722
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 0.249608
PPAT phosphoribosyl pyrophosphate amidotransferase 0.248203
LPL lipoprotein lipase 0.247852
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial 0.24715
GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon 0.243295
UGT2B11 UDP glucuronosyltransferase 2 family, polypeptide B11 0.23945
CSF3 colony stimulating factor 3 (granulocyte) 0.238403
UGT2B10 UDP glucuronosyltransferase 2 family, polypeptide B10 0.235268
MIR130B microRNA 130b 0.232489
UGP2 UDP-glucose pyrophosphorylase 2 0.231448
ETFDH electron-transferring-flavoprotein dehydrogenase 0.228333
TPM3 tropomyosin 3 0.226607
UGT2B15 UDP glucuronosyltransferase 2 family, polypeptide B15 0.225229
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 0.223165
ASS1 argininosuccinate synthase 1 0.22145
GLDC glycine dehydrogenase (decarboxylating) 0.218374
PFKL phosphofructokinase, liver 0.210253
SPTB spectrin, beta, erythrocytic 0.208579
APRT adenine phosphoribosyltransferase 0.207912
DUOX1 dual oxidase 1 0.203933
AMY1C amylase, alpha 1C (salivary) 0.203604
AMY1B amylase, alpha 1B (salivary) 0.203604
AMY1A amylase, alpha 1A (salivary) 0.203604
IDUA iduronidase, alpha-L- 0.203275
UGT2B4 UDP glucuronosyltransferase 2 family, polypeptide B4 0.201962
MAN2B1 mannosidase, alpha, class 2B, member 1 0.188632
UGT2B17 UDP glucuronosyltransferase 2 family, polypeptide B17 0.188326
CARM1 coactivator-associated arginine methyltransferase 1 0.188022
DUOX2 dual oxidase 2 0.186811
THOP1 thimet oligopeptidase 1 0.186811
MYH7 myosin, heavy chain 7, cardiac muscle, beta 0.18651
CAMP cathelicidin antimicrobial peptide 0.181222
FTCD formimidoyltransferase cyclodeaminase 0.176485
ACP2 acid phosphatase 2, lysosomal 0.175146
IDS iduronate 2-sulfatase 0.175146
SHOC2 soc-2 suppressor of clear homolog (C. elegans) 0.172799
GNPAT glyceronephosphate O-acyltransferase 0.170789
GSK3A glycogen synthase kinase 3 alpha 0.170789
PCCB propionyl CoA carboxylase, beta polypeptide 0.170789
YY1 YY1 transcription factor 0.170299
TPM1 tropomyosin 1 (alpha) 0.166995
GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial 0.164571
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 0.162707
INSR insulin receptor 0.162109
PRMT1 protein arginine methyltransferase 1 0.13292
MYOT myotilin 0.128674
RYBP RING1 and YY1 binding protein 0.120143
IL6ST interleukin 6 signal transducer 0.118338
RORA RAR-related orphan receptor A 0.116319
MIR214 microRNA 214 0.115725
LDB3 LIM domain binding 3 0.115662
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 0.114255
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.113849
ANO5 anoctamin 5 0.113827
LDHAL6B lactate dehydrogenase A-like 6B 0.111617
SCP2 sterol carrier protein 2 0.110999
CKAP5 cytoskeleton associated protein 5 0.110669
GAMT guanidinoacetate N-methyltransferase 0.11039
DLL1 delta-like 1 (Drosophila) 0.110289
HTR1F 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 0.108987
LDHAL6A lactate dehydrogenase A-like 6A 0.10766
CKMT1A creatine kinase, mitochondrial 1A 0.106346
AK1 adenylate kinase 1 0.106148
AIM2 absent in melanoma 2 0.106063
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 0.105893
POU1F1 POU class 1 homeobox 1 0.10502
TFEB transcription factor EB 0.104638
CKMT1B creatine kinase, mitochondrial 1B 0.104399
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 0.103922
CHGA chromogranin A 0.103654
GK glycerol kinase 0.103378
MPV17 MpV17 mitochondrial inner membrane protein 0.102644
MLX MLX, MAX dimerization protein 0.101771
SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 0.101045
CLCN1 chloride channel, voltage-sensitive 1 0.099592
ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein 0.099165
IGF2R insulin-like growth factor 2 receptor 0.098772
CKB creatine kinase, brain 0.098537
GBA glucosidase, beta, acid 0.098067
GALNS galactosamine (N-acetyl)-6-sulfatase 0.097799
LDHC lactate dehydrogenase C 0.097531
CNBP CCHC-type zinc finger, nucleic acid binding protein 0.097395
LATS1 large tumor suppressor kinase 1 0.096539
CA7 carbonic anhydrase VII 0.096539
CHIT1 chitinase 1 (chitotriosidase) 0.096504
LDHB lactate dehydrogenase B 0.096127
SDF4 stromal cell derived factor 4 0.095392
HAS1 hyaluronan synthase 1 0.095288
FOS FBJ murine osteosarcoma viral oncogene homolog 0.093764
FKRP fukutin related protein 0.09337
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) 0.093334
UMOD uromodulin 0.093152
MCOLN1 mucolipin 1 0.092571
GLS glutaminase 0.090807
CKM creatine kinase, muscle 0.090546
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 0.09017
CTSD cathepsin D 0.090019
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.089644
APOB apolipoprotein B 0.089381
SRSF1 serine/arginine-rich splicing factor 1 0.088963
MTM1 myotubularin 1 0.088848
SCN4A sodium channel, voltage gated, type IV alpha subunit 0.088504
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 0.08778
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 0.087275
GALT galactose-1-phosphate uridylyltransferase 0.086267
YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta 0.086188
DES desmin 0.084214
CCNA2 cyclin A2 0.083417
HPRT1 hypoxanthine phosphoribosyltransferase 1 0.083298
MYLK myosin light chain kinase 0.083056
PPT1 palmitoyl-protein thioesterase 1 0.081643