Glycogen Storage Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0543514
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Genes

272 genes associated with the disease Glycogen Storage Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ACAD10 acyl-CoA dehydrogenase family, member 10
ACE angiotensin I converting enzyme
ACTB actin, beta
ACTN3 actinin, alpha 3 (gene/pseudogene)
ADIPOQ adiponectin, C1Q and collagen domain containing
ADM adrenomedullin
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AHR aryl hydrocarbon receptor
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALB albumin
ALDOA aldolase A, fructose-bisphosphate
AMD1 adenosylmethionine decarboxylase 1
AMPD1 adenosine monophosphate deaminase 1
AMPD2 adenosine monophosphate deaminase 2
AMPD3 adenosine monophosphate deaminase 3
ANG angiogenin, ribonuclease, RNase A family, 5
ANGPTL4 angiopoietin-like 4
ANPEP alanyl (membrane) aminopeptidase
APOA1 apolipoprotein A-I
APOA4 apolipoprotein A-IV
APOB apolipoprotein B
APOE apolipoprotein E
APOM apolipoprotein M
APRT adenine phosphoribosyltransferase
ARIH2 ariadne RBR E3 ubiquitin protein ligase 2
ARMC9 armadillo repeat containing 9
ARMS2 age-related maculopathy susceptibility 2
ARSA arylsulfatase A
ARSB arylsulfatase B
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
BDNF brain-derived neurotrophic factor
BMP1 bone morphogenetic protein 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRAP BRCA1 associated protein
BRCA1 breast cancer 1, early onset
BTD biotinidase
C1QTNF5 C1q and tumor necrosis factor related protein 5
C3 complement component 3
CALCR calcitonin receptor
CALM3 calmodulin 3 (phosphorylase kinase, delta)
CALR calreticulin
CCDC40 coiled-coil domain containing 40
CCL11 chemokine (C-C motif) ligand 11
CCL2 chemokine (C-C motif) ligand 2
CCL27 chemokine (C-C motif) ligand 27
CCR1 chemokine (C-C motif) receptor 1
CCR2 chemokine (C-C motif) receptor 2
CCR3 chemokine (C-C motif) receptor 3
CD38 CD38 molecule
CD59 CD59 molecule, complement regulatory protein
CDKN2A cyclin-dependent kinase inhibitor 2A
CETP cholesteryl ester transfer protein, plasma
CFB complement factor B
CFH complement factor H
CFHR2 complement factor H-related 2
CFHR4 complement factor H-related 4
CFI complement factor I
CIAO3 cytosolic iron-sulfur assembly component 3
CNTF ciliary neurotrophic factor
COL18A1 collagen, type XVIII, alpha 1
COL1A2 collagen, type I, alpha 2
COL6A2 collagen, type VI, alpha 2
COL8A1 collagen, type VIII, alpha 1
COX1
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CP ceruloplasmin (ferroxidase)
CPT2 carnitine palmitoyltransferase 2
CRP C-reactive protein, pentraxin-related
CSF3 colony stimulating factor 3 (granulocyte)
CUL4B cullin 4B
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL12 chemokine (C-X-C motif) ligand 12
CXCL13 chemokine (C-X-C motif) ligand 13
CXCL5 chemokine (C-X-C motif) ligand 5
CXCL6 chemokine (C-X-C motif) ligand 6
CXCL8 chemokine (C-X-C motif) ligand 8
CXCL9 chemokine (C-X-C motif) ligand 9
CXCR4 chemokine (C-X-C motif) receptor 4
DBNL drebrin-like
DDIT4 DNA-damage-inducible transcript 4
DES desmin
DHFR dihydrofolate reductase
DKK1 dickkopf WNT signaling pathway inhibitor 1
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific )
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
ENO2 enolase 2 (gamma, neuronal)
ENO3 enolase 3 (beta, muscle)
EPO erythropoietin
ERCC6 excision repair cross-complementation group 6
EVPL envoplakin
F10 coagulation factor X
F2 coagulation factor II (thrombin)
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FECH ferrochelatase
FHL1 four and a half LIM domains 1
FKBPL FK506 binding protein like
FLT1 fms-related tyrosine kinase 1
FN1 fibronectin 1
FPR1 formyl peptide receptor 1
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
FZD4 frizzled class receptor 4
G6PC glucose-6-phosphatase, catalytic subunit
G6PC3 glucose 6 phosphatase, catalytic, 3
GAA glucosidase, alpha; acid
GALC galactosylceramidase
GAS6 growth arrest-specific 6
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCG glucagon
GCK glucokinase (hexokinase 4)
GGT1 gamma-glutamyltransferase 1
GGTLC3 gamma-glutamyltransferase light chain 3
GLA galactosidase, alpha
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GSTP1 glutathione S-transferase pi 1
GSTZ1 glutathione S-transferase zeta 1
GYG1 glycogenin 1
GYPE glycophorin E (MNS blood group)
GYS1 glycogen synthase 1 (muscle)
GYS2 glycogen synthase 2 (liver)
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMCN1 hemicentin 1
HNF1A HNF1 homeobox A
HPGDS hematopoietic prostaglandin D synthase
HTRA1 HtrA serine peptidase 1
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2R insulin-like growth factor 2 receptor
IGFALS insulin-like growth factor binding protein, acid labile subunit
IGFBP3 insulin-like growth factor binding protein 3
IKZF2 IKAROS family zinc finger 2 (Helios)
IL10 interleukin 10
IL17A interleukin 17A
IL1B interleukin 1, beta
IL6 interleukin 6
IMPA1 inositol(myo)-1(or 4)-monophosphatase 1
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGB3BP integrin beta 3 binding protein (beta3-endonexin)
JAK2 Janus kinase 2
KCNJ12 potassium channel, inwardly rectifying subfamily J, member 12
KCNJ3 potassium channel, inwardly rectifying subfamily J, member 3
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KDR kinase insert domain receptor
KERA keratocan
LAMP2 lysosomal-associated membrane protein 2
LAMP3 lysosomal-associated membrane protein 3
LATS1 large tumor suppressor kinase 1
LIPC lipase, hepatic
LPA lipoprotein, Lp(a)
LPL lipoprotein lipase
LRP5 low density lipoprotein receptor-related protein 5
LSAMP limbic system-associated membrane protein
MADD MAP-kinase activating death domain
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP2 microtubule-associated protein 2
MAPK3 mitogen-activated protein kinase 3
MB myoglobin
MFAP1 microfibrillar-associated protein 1
MFGE8 milk fat globule-EGF factor 8 protein
MGAM maltase-glucoamylase
MLXIPL MLX interacting protein-like
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MME membrane metallo-endopeptidase
MMP9 matrix metallopeptidase 9
MSTN myostatin
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MXD1 MAX dimerization protein 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NELFE negative elongation factor complex member E
NFE2L2 nuclear factor, erythroid 2-like 2
NGF nerve growth factor (beta polypeptide)
NLRP3 NLR family, pyrin domain containing 3
NPPB natriuretic peptide B
NQO1 NAD(P)H dehydrogenase, quinone 1
NR1H3 nuclear receptor subfamily 1, group H, member 3
OLIG1 oligodendrocyte transcription factor 1
PARP1 poly (ADP-ribose) polymerase 1
PFKM phosphofructokinase, muscle
PGAM2 phosphoglycerate mutase 2 (muscle)
PGF placental growth factor
PGM1 phosphoglucomutase 1
PHKA1 phosphorylase kinase, alpha 1 (muscle)
PHKA2 phosphorylase kinase, alpha 2 (liver)
PHKB phosphorylase kinase, beta
PHKG1 phosphorylase kinase, gamma 1 (muscle)
PHKG2 phosphorylase kinase, gamma 2 (testis)
PIK3R4 phosphoinositide-3-kinase, regulatory subunit 4
PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
PLXNA2 plexin A2
PNPLA2 patatin-like phospholipase domain containing 2
PON1 paraoxonase 1
PPARA peroxisome proliferator-activated receptor alpha
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPL periplakin
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRPH2 peripherin 2 (retinal degeneration, slow)
PTH parathyroid hormone
PTK2B protein tyrosine kinase 2 beta
PYGL phosphorylase, glycogen, liver
PYGM phosphorylase, glycogen, muscle
RAD51B RAD51 paralog B
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1
RNF31 ring finger protein 31
RPE ribulose-5-phosphate-3-epimerase
RYR1 ryanodine receptor 1 (skeletal)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SFN stratifin
SI sucrase-isomaltase (alpha-glucosidase)
SIRT1 sirtuin 1
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC16A8 solute carrier family 16 (monocarboxylate transporter), member 8
SLC17A3 solute carrier family 17 (organic anion transporter), member 3
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SLURP1 secreted LY6/PLAUR domain containing 1
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
STBD1 starch binding domain 1
STC1 stanniocalcin 1
TAC1 tachykinin, precursor 1
TBK1 TANK-binding kinase 1
TET2 tet methylcytosine dioxygenase 2
TFEB transcription factor EB
TFR2 transferrin receptor 2
TIMP3 TIMP metallopeptidase inhibitor 3
TLR3 toll-like receptor 3
TNF tumor necrosis factor
TNNT2 troponin T type 2 (cardiac)
TNXB tenascin XB
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRAPPC4 trafficking protein particle complex 4
TTR transthyretin
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10
UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3
UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4
UGT1A5 UDP glucuronosyltransferase 1 family, polypeptide A5
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6
UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7
UGT1A8 UDP glucuronosyltransferase 1 family, polypeptide A8
UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9
VEGFA vascular endothelial growth factor A
VIM vimentin
VLDLR very low density lipoprotein receptor
VMA21 VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)
VWF von Willebrand factor
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
ZBTB33 zinc finger and BTB domain containing 33
ZFP36 ZFP36 ring finger protein