cholesterol ester storage disease Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:14502
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Genes

144 genes associated with the disease cholesterol ester storage disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
CETP cholesteryl ester transfer protein, plasma 3.00364
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 2.7274
PSKH1 protein serine kinase H1 2.59626
LOC157273 uncharacterized LOC157273 2.45083
GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 2.44378
HECTD4 HECT domain containing E3 ubiquitin protein ligase 4 2.3804
HNF4A hepatocyte nuclear factor 4, alpha 2.34626
LIPC lipase, hepatic 2.31188
APOB apolipoprotein B 2.28171
F2 coagulation factor II (thrombin) 2.24321
FADS1 fatty acid desaturase 1 2.21691
LPL lipoprotein lipase 2.1643
APOC1 apolipoprotein C-I 2.05547
TTC39B tetratricopeptide repeat domain 39B 1.98999
CMIP c-Maf inducing protein 1.98999
PABPC4 poly(A) binding protein, cytoplasmic 4 (inducible form) 1.93944
UBE2L3 ubiquitin-conjugating enzyme E2L 3 1.93435
STARD3 StAR-related lipid transfer (START) domain containing 3 1.90321
TRPS1 trichorhinophalangeal syndrome I 1.89896
DOCK6 dedicator of cytokinesis 6 1.89531
NUTF2 nuclear transport factor 2 1.83778
SLC39A8 solute carrier family 39 (zinc transporter), member 8 1.83309
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type 1.79589
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2 1.74932
FPR3 formyl peptide receptor 3 1.7256
TBL2 transducin (beta)-like 2 1.7088
ABCA8 ATP-binding cassette, sub-family A (ABC1), member 8 1.69467
FAM13A family with sequence similarity 13, member A 1.6622
DAGLB diacylglycerol lipase, beta 1.65151
RBM5 RNA binding motif protein 5 1.64114
SNX13 sorting nexin 13 1.64114
PGS1 phosphatidylglycerophosphate synthase 1 1.62029
PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B) 1.58234
STAB1 stabilin 1 1.57873
KCTD10 potassium channel tetramerization domain containing 10 1.57556
MARCH8 membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase 1.55738
ZNF664 zinc finger protein 664 1.54533
ARL15 ADP-ribosylation factor-like 15 1.52067
CPS1 carbamoyl-phosphate synthase 1, mitochondrial 1.51254
C19ORF80 chromosome 19 open reading frame 80 1.47287
PCIF1 PDX1 C-terminal inhibiting factor 1 1.46277
SETD2 SET domain containing 2 1.46277
DNAJC13 DnaJ (Hsp40) homolog, subfamily C, member 13 1.45471
FTO fat mass and obesity associated 1.44134
C1ORF220 chromosome 1 open reading frame 220 1.44134
SBNO1 strawberry notch homolog 1 (Drosophila) 1.43537
GSK3B glycogen synthase kinase 3 beta 1.42467
ANGPTL4 angiopoietin-like 4 1.39396
RRNAD1 ribosomal RNA adenine dimethylase domain containing 1 1.39396
DPEP3 dipeptidase 3 1.37327
PCNXL3 pecanex-like 3 (Drosophila) 1.37327
NR1H3 nuclear receptor subfamily 1, group H, member 3 1.35834
ATG7 autophagy related 7 1.34719
LOC100507053 uncharacterized LOC100507053 1.34719
DPEP2 dipeptidase 2 1.33037
GFOD2 glucose-fructose oxidoreductase domain containing 2 1.28906
POU2F3 POU class 2 homeobox 3 1.27258
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) 1.25477
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2 1.23532
BTBD1 BTB (POZ) domain containing 1 1.19848
WDR81 WD repeat domain 81 1.17691
PDE10A phosphodiesterase 10A 1.14143
ZNF236 zinc finger protein 236 1.11309
MYO1H myosin IH 1.10764
FADS2 fatty acid desaturase 2 1.07599
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) 1.06831
KIF26B kinesin family member 26B 1.06275
FHOD3 formin homology 2 domain containing 3 1.05244
OAS3 2'-5'-oligoadenylate synthetase 3, 100kDa 1.02476
SH3RF1 SH3 domain containing ring finger 1 1.01024
C20ORF196 chromosome 20 open reading frame 196 0.9916
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) 0.983144
HERPUD1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 0.976976
PEBP4 phosphatidylethanolamine-binding protein 4 0.95488
COL27A1 collagen, type XXVII, alpha 1 0.947208
CNTN4 contactin 4 0.93638
CSMD1 CUB and Sushi multiple domains 1 0.921998
FBXL17 F-box and leucine-rich repeat protein 17 0.917442
TRAPPC8 trafficking protein particle complex 8 0.913754
TRPM3 transient receptor potential cation channel, subfamily M, member 3 0.898875
PCSK7 proprotein convertase subtilisin/kexin type 7 0.891974
SCN3B sodium channel, voltage gated, type III beta subunit 0.887161
NEGR1 neuronal growth regulator 1 0.885252
TMEM120B transmembrane protein 120B 0.87287
INVS inversin 0.851812
ERBB4 erb-b2 receptor tyrosine kinase 4 0.848443
TMEM106B transmembrane protein 106B 0.840723
CLCN3 chloride channel, voltage-sensitive 3 0.838994
LDLR low density lipoprotein receptor 0.838994
NINL ninein-like 0.826866
SLIT2 slit homolog 2 (Drosophila) 0.823134
DUOX1 dual oxidase 1 0.823134
AUNIP aurora kinase A and ninein interacting protein 0.816063
POU1F1 POU class 1 homeobox 1 0.815307
ZNF57 zinc finger protein 57 0.808756
CERS6 ceramide synthase 6 0.794936
LRFN5 leucine rich repeat and fibronectin type III domain containing 5 0.794591
DLG2 discs, large homolog 2 (Drosophila) 0.789873
NPAS3 neuronal PAS domain protein 3 0.787593
PCSK2 proprotein convertase subtilisin/kexin type 2 0.787271
C1ORF110 chromosome 1 open reading frame 110 0.782256
MSRA methionine sulfoxide reductase A 0.779837
MTFR1L mitochondrial fission regulator 1-like 0.778945
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein 0.778061
TEX10 testis expressed 10 0.777767
RMDN2 regulator of microtubule dynamics 2 0.76818
ECT2L epithelial cell transforming 2 like 0.762941
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 0.758762
PABPC1L poly(A) binding protein, cytoplasmic 1-like 0.757675
MECOM MDS1 and EVI1 complex locus 0.753954
LOXL2 lysyl oxidase-like 2 0.750108
PLB1 phospholipase B1 0.747619
RAB3C RAB3C, member RAS oncogene family 0.745911
SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 0.741645
CA12 carbonic anhydrase XII 0.73454
PTPRD protein tyrosine phosphatase, receptor type, D 0.73454
EXOC6 exocyst complex component 6 0.733103
PCDH9 protocadherin 9 0.727312
ASIC2 acid sensing (proton gated) ion channel 2 0.726862
TENM2 teneurin transmembrane protein 2 0.72376
MFHAS1 malignant fibrous histiocytoma amplified sequence 1 0.721812
PLCB4 phospholipase C, beta 4 0.720532
SORCS3 sortilin-related VPS10 domain containing receptor 3 0.717191
RASGRP4 RAS guanyl releasing protein 4 0.710614
ALK anaplastic lymphoma receptor tyrosine kinase 0.706816
COL19A1 collagen, type XIX, alpha 1 0.704784
GINS1 GINS complex subunit 1 (Psf1 homolog) 0.704601
LSAMP limbic system-associated membrane protein 0.704237
ERP44 endoplasmic reticulum protein 44 0.698928
KIRREL3 kin of IRRE like 3 (Drosophila) 0.696546
HPCAL1 hippocalcin-like 1 0.694217
ARHGAP25 Rho GTPase activating protein 25 0.693561
SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 0.691618
HTT huntingtin 0.685698
CSMD3 CUB and Sushi multiple domains 3 0.682715
TRIB1 tribbles pseudokinase 1 0.682568
NUP93 nucleoporin 93kDa 0.680534
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.679961
SIK3 SIK family kinase 3 0.677141
KIAA0355 KIAA0355 0.673994
EGFR epidermal growth factor receptor 0.670567
GPR139 G protein-coupled receptor 139 0.670054
IPO8 importin 8 0.669747
HHAT hedgehog acyltransferase 0.669747