abnormal circulating glycerol level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description abnormal blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source (Mammalian Phenotype Ontology, MP_0011973)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011973
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Genes

30 gene mutations causing the abnormal circulating glycerol level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AQP7 aquaporin 7
AQP9 aquaporin 9
ATP8B2 ATPase, aminophospholipid transporter, class I, type 8B, member 2
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAV1 caveolin 1, caveolae protein, 22kDa
CDH23 cadherin-related 23
CES1 carboxylesterase 1
DOPEY2 dopey family member 2
EPB41L5 erythrocyte membrane protein band 4.1 like 5
FABP2 fatty acid binding protein 2, intestinal
GLG1 golgi glycoprotein 1
GNAS GNAS complex locus
LIPE lipase, hormone-sensitive
MGLL monoglyceride lipase
MRAP2 melanocortin 2 receptor accessory protein 2
MYO7A myosin VIIA
MYSM1 Myb-like, SWIRM and MPN domains 1
NR1D2 nuclear receptor subfamily 1, group D, member 2
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
P2RY13 purinergic receptor P2Y, G-protein coupled, 13
PARVB parvin, beta
PDE3B phosphodiesterase 3B, cGMP-inhibited
PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2
SETMAR SET domain and mariner transposase fusion gene
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SNAP47 synaptosomal-associated protein, 47kDa
SYT1 synaptotagmin I
THRB thyroid hormone receptor, beta
TMEM189 transmembrane protein 189
VAMP7 vesicle-associated membrane protein 7
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