abnormality of cholesterol metabolism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003107
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Genes

46 genes associated with the abnormality of cholesterol metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ALMS1 Alstrom syndrome protein 1
ANGPTL3 angiopoietin-like 3
APOA1 apolipoprotein A-I
APOA5 apolipoprotein A-V
APOB apolipoprotein B
APOC3 apolipoprotein C-III
APOE apolipoprotein E
APTX aprataxin
CAV1 caveolin 1, caveolae protein, 22kDa
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CETP cholesteryl ester transfer protein, plasma
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B
EBP emopamil binding protein (sterol isomerase)
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
JAG1 jagged 1
LBR lamin B receptor
LCAT lecithin-cholesterol acyltransferase
LDLRAP1 low density lipoprotein receptor adaptor protein 1
LIPA lipase A, lysosomal acid, cholesterol esterase
LMNA lamin A/C
LPL lipoprotein lipase
MTTP microsomal triglyceride transfer protein
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NSDHL NAD(P) dependent steroid dehydrogenase-like
OCRL oculocerebrorenal syndrome of Lowe
PANK2 pantothenate kinase 2
PCSK9 proprotein convertase subtilisin/kexin type 9
PEX12 peroxisomal biogenesis factor 12
PHKA2 phosphorylase kinase, alpha 2 (liver)
PMM2 phosphomannomutase 2
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
RAI1 retinoic acid induced 1
SAR1B secretion associated, Ras related GTPase 1B
SC5D sterol-C5-desaturase
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
TTPA tocopherol (alpha) transfer protein
UBR1 ubiquitin protein ligase E3 component n-recognin 1