decreased glycogen level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description less than the normal concentration of a readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle (Mammalian Phenotype Ontology, MP_0005439)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005439
Similar Terms
Downloads & Tools

Genes

51 gene mutations causing the decreased 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
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
CAV1 caveolin 1, caveolae protein, 22kDa
CD36 CD36 molecule (thrombospondin receptor)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CRTC2 CREB regulated transcription coactivator 2
DFNB31 deafness, autosomal recessive 31
DGAT2 diacylglycerol O-acyltransferase 2
EPM2AIP1 EPM2A (laforin) interacting protein 1
FABP3 fatty acid binding protein 3, muscle and heart
FOXO1 forkhead box O1
FSTL3 follistatin-like 3 (secreted glycoprotein)
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCK glucokinase (hexokinase 4)
GCKR glucokinase (hexokinase 4) regulator
GYS1 glycogen synthase 1 (muscle)
GYS2 glycogen synthase 2 (liver)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
IL6ST interleukin 6 signal transducer
INSR insulin receptor
IRS2 insulin receptor substrate 2
KLF15 Kruppel-like factor 15
LIPE lipase, hormone-sensitive
MARK3 MAP/microtubule affinity-regulating kinase 3
MIR122 microRNA 122
NCOR1 nuclear receptor corepressor 1
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
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PLAU plasminogen activator, urokinase
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
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
TWIST2 twist family bHLH transcription factor 2
ZBTB20 zinc finger and BTB domain containing 20