abnormal liver glycogen level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description abnormal concentration of a readily converted carbohydrate reserve in liver (Mammalian Phenotype Ontology, MP_0012777)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012777
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Genes

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

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
CAV1 caveolin 1, caveolae protein, 22kDa
CTHRC1 collagen triple helix repeat containing 1
DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15
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
GBE1 glucan (1,4-alpha-), branching enzyme 1
GSK3A glycogen synthase kinase 3 alpha
GYS2 glycogen synthase 2 (liver)
IL6ST interleukin 6 signal transducer
KLF15 Kruppel-like factor 15
MAN2C1 mannosidase, alpha, class 2C, member 1
MARK3 MAP/microtubule affinity-regulating kinase 3
MIR122 microRNA 122
MLXIPL MLX interacting protein-like
NCOR1 nuclear receptor corepressor 1
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OSMR oncostatin M receptor
PLAU plasminogen activator, urokinase
PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit
SCG5 secretogranin V