abnormal glycogen level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle (Mammalian Phenotype Ontology, MP_0005437)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005437
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Genes

87 gene mutations causing the abnormal glycogen level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ACACB acetyl-CoA carboxylase beta
ACADVL acyl-CoA dehydrogenase, very long chain
ACTA1 actin, alpha 1, skeletal muscle
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADRA1B adrenoceptor alpha 1B
AFP alpha-fetoprotein
ATXN2 ataxin 2
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
CALR calreticulin
CAV1 caveolin 1, caveolae protein, 22kDa
CD36 CD36 molecule (thrombospondin receptor)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CKM creatine kinase, muscle
CREBBP CREB binding protein
CRTC2 CREB regulated transcription coactivator 2
CTHRC1 collagen triple helix repeat containing 1
CXADR coxsackie virus and adenovirus receptor
DFNB31 deafness, autosomal recessive 31
DGAT2 diacylglycerol O-acyltransferase 2
DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
EPM2AIP1 EPM2A (laforin) interacting protein 1
FABP3 fatty acid binding protein 3, muscle and heart
FGF21 fibroblast growth factor 21
FNIP1 folliculin interacting protein 1
FOXO1 forkhead box O1
FSTL1 follistatin-like 1
FSTL3 follistatin-like 3 (secreted glycoprotein)
G6PC glucose-6-phosphatase, catalytic subunit
GAA glucosidase, alpha; acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCK glucokinase (hexokinase 4)
GCKR glucokinase (hexokinase 4) regulator
GJB1 gap junction protein, beta 1, 32kDa
GNMT glycine N-methyltransferase
GRB10 growth factor receptor-bound protein 10
GSK3A glycogen synthase kinase 3 alpha
GYS1 glycogen synthase 1 (muscle)
GYS2 glycogen synthase 2 (liver)
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
IL6ST interleukin 6 signal transducer
INSR insulin receptor
IRS2 insulin receptor substrate 2
KLF15 Kruppel-like factor 15
LEPR leptin receptor
LIFR leukemia inhibitory factor receptor alpha
LIPE lipase, hormone-sensitive
LPIN1 lipin 1
MAN2C1 mannosidase, alpha, class 2C, member 1
MARK3 MAP/microtubule affinity-regulating kinase 3
MIR122 microRNA 122
MLXIPL MLX interacting protein-like
NCOA3 nuclear receptor coactivator 3
NCOR1 nuclear receptor corepressor 1
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NPY1R neuropeptide Y receptor Y1
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OSMR oncostatin M receptor
PCCA propionyl CoA carboxylase, alpha polypeptide
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDK4 pyruvate dehydrogenase kinase, isozyme 4
PEX11B peroxisomal biogenesis factor 11 beta
PFKM phosphofructokinase, muscle
PHKA1 phosphorylase kinase, alpha 1 (muscle)
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PLAU plasminogen activator, urokinase
PNPLA2 patatin-like phospholipase domain containing 2
PPARA peroxisome proliferator-activated receptor alpha
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PPP1R3C protein phosphatase 1, regulatory subunit 3C
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit
PRKAG3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SAMD4A sterile alpha motif domain containing 4A
SC5D sterol-C5-desaturase
SCG5 secretogranin V
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
STK40 serine/threonine kinase 40
TUB tubby bipartite transcription factor
TWIST2 twist family bHLH transcription factor 2
ZBTB20 zinc finger and BTB domain containing 20