abnormal brain cholesterol level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description aberrant amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues (Mammalian Phenotype Ontology, MP_0012779)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012779
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7 gene mutations causing the abnormal brain cholesterol level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
APOE apolipoprotein E
DHCR7 7-dehydrocholesterol reductase
MBP myelin basic protein
MECP2 methyl CpG binding protein 2
NPC1 Niemann-Pick disease, type C1
SC5D sterol-C5-desaturase
SREBF2 sterol regulatory element binding transcription factor 2