glycogen storage disease ii 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 lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. (Human Disease Ontology, DOID_2752)
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Genes

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

Symbol Name Standardized Value
GAA glucosidase, alpha; acid 3.68684
GANAB glucosidase, alpha; neutral AB 1.64307
DNASE1L1 deoxyribonuclease I-like 1 1.4566
GANC glucosidase, alpha; neutral C 1.45045
PYGM phosphorylase, glycogen, muscle 1.21478
PYGB phosphorylase, glycogen; brain 1.13078
PYGL phosphorylase, glycogen, liver 1.12698
GYG1 glycogenin 1 1.10468
M6PR mannose-6-phosphate receptor (cation dependent) 1.05303
LAMP2 lysosomal-associated membrane protein 2 1.04377
GYS1 glycogen synthase 1 (muscle) 0.99697
PRKAG3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit 0.929173
ACPP acid phosphatase, prostate 0.890078
MGAM maltase-glucoamylase 0.881882
SRSF4 serine/arginine-rich splicing factor 4 0.874509
ZFP64 ZFP64 zinc finger protein 0.857724
PFKM phosphofructokinase, muscle 0.780251
AMPD1 adenosine monophosphate deaminase 1 0.775341
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit 0.761862
PRMT6 protein arginine methyltransferase 6 0.758193
MATR3 matrin 3 0.755342
U2AF2 U2 small nuclear RNA auxiliary factor 2 0.727333
GPAA1 glycosylphosphatidylinositol anchor attachment 1 0.706754
CARM1 coactivator-associated arginine methyltransferase 1 0.561781
DMD dystrophin 0.557897
ACP2 acid phosphatase 2, lysosomal 0.544318
ST6GALNAC1 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 0.529994
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 0.52536
ANO5 anoctamin 5 0.511112
CAV3 caveolin 3 0.503441
INSC inscuteable homolog (Drosophila) 0.492359
LDHAL6B lactate dehydrogenase A-like 6B 0.475634
SCP2 sterol carrier protein 2 0.466172
PGAM2 phosphoglycerate mutase 2 (muscle) 0.452208
LAMA2 laminin, alpha 2 0.426265
LDHAL6A lactate dehydrogenase A-like 6A 0.418394
PRMT1 protein arginine methyltransferase 1 0.417644
CKMT1A creatine kinase, mitochondrial 1A 0.400826
AIM2 absent in melanoma 2 0.397098
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 0.394863
SI sucrase-isomaltase (alpha-glucosidase) 0.394491
TFEB transcription factor EB 0.378885
CKMT1B creatine kinase, mitochondrial 1B 0.37592
TPM1 tropomyosin 1 (alpha) 0.32701
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 0.323002
CLCN1 chloride channel, voltage-sensitive 1 0.319363
ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein 0.31464
CKB creatine kinase, brain 0.307757
GALNS galactosamine (N-acetyl)-6-sulfatase 0.299812
LDHC lactate dehydrogenase C 0.296931
CNBP CCHC-type zinc finger, nucleic acid binding protein 0.295492
LDHB lactate dehydrogenase B 0.282225
FKRP fukutin related protein 0.254536
MCOLN1 mucolipin 1 0.246799
SPTB spectrin, beta, erythrocytic 0.246098
CKM creatine kinase, muscle 0.227642
IDUA iduronidase, alpha-L- 0.225229
CTSD cathepsin D 0.222822
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.219398
SRSF1 serine/arginine-rich splicing factor 1 0.213283
MTM1 myotubularin 1 0.212271
SCN4A sodium channel, voltage gated, type IV alpha subunit 0.209248
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 0.202946
IDS iduronate 2-sulfatase 0.194232
GALT galactose-1-phosphate uridylyltransferase 0.190476
YY1 YY1 transcription factor 0.188326
DES desmin 0.175411