abnormality of lipid 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:0003119
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Genes

125 genes associated with the abnormality of lipid 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
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ACAD8 acyl-CoA dehydrogenase family, member 8
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACTN4 actinin, alpha 4
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALMS1 Alstrom syndrome protein 1
ANGPTL3 angiopoietin-like 3
APOA1 apolipoprotein A-I
APOA5 apolipoprotein A-V
APOB apolipoprotein B
APOC2 apolipoprotein C-II
APOC3 apolipoprotein C-III
APOE apolipoprotein E
APTX aprataxin
AR androgen receptor
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAV1 caveolin 1, caveolae protein, 22kDa
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CETP cholesteryl ester transfer protein, plasma
CIDEC cell death-inducing DFFA-like effector c
CLIP2 CAP-GLY domain containing linker protein 2
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CTNS cystinosin, lysosomal cystine transporter
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DCAF17 DDB1 and CUL4 associated factor 17
DGAT1 diacylglycerol O-acyltransferase 1
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B
EBP emopamil binding protein (sterol isomerase)
ELN elastin
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FBN1 fibrillin 1
FECH ferrochelatase
FLII flightless I homolog (Drosophila)
FOS FBJ murine osteosarcoma viral oncogene homolog
G6PC glucose-6-phosphatase, catalytic subunit
GBA glucosidase, beta, acid
GHR growth hormone receptor
GK glycerol kinase
GLA galactosidase, alpha
GM2A GM2 ganglioside activator
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
HMBS hydroxymethylbilane synthase
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
JAG1 jagged 1
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
LBR lamin B receptor
LCAT lecithin-cholesterol acyltransferase
LDLRAP1 low density lipoprotein receptor adaptor protein 1
LIMK1 LIM domain kinase 1
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPE lipase, hormone-sensitive
LMNA lamin A/C
LPL lipoprotein lipase
MCOLN1 mucolipin 1
MT-TK tRNA
MT-TL1 tRNA
MTTP microsomal triglyceride transfer protein
MYO5A myosin VA (heavy chain 12, myoxin)
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NSDHL NAD(P) dependent steroid dehydrogenase-like
OCRL oculocerebrorenal syndrome of Lowe
PANK2 pantothenate kinase 2
PCSK9 proprotein convertase subtilisin/kexin type 9
PEX1 peroxisomal biogenesis factor 1
PEX12 peroxisomal biogenesis factor 12
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX5 peroxisomal biogenesis factor 5
PEX7 peroxisomal biogenesis factor 7
PHKA2 phosphorylase kinase, alpha 2 (liver)
PHKG2 phosphorylase kinase, gamma 2 (testis)
PHYH phytanoyl-CoA 2-hydroxylase
PLIN1 perilipin 1
PMM2 phosphomannomutase 2
PNPLA2 patatin-like phospholipase domain containing 2
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PRF1 perforin 1 (pore forming protein)
PSAP prosaposin
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTRF polymerase I and transcript release factor
RAB27A RAB27A, member RAS oncogene family
RAI1 retinoic acid induced 1
RFC2 replication factor C (activator 1) 2, 40kDa
SAR1B secretion associated, Ras related GTPase 1B
SC5D sterol-C5-desaturase
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
STX11 syntaxin 11
STXBP2 syntaxin binding protein 2
TBL2 transducin (beta)-like 2
TFG TRK-fused gene
TRNE
TTPA tocopherol (alpha) transfer protein
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UNC13D unc-13 homolog D (C. elegans)
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
ZMPSTE24 zinc metallopeptidase STE24