lipid storage disease Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. (Human Disease Ontology, DOID_9455)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:9455
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Genes

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

Symbol Name Standardized Value
ICAM1 intercellular adhesion molecule 1 2.43768
CETP cholesteryl ester transfer protein, plasma 2.29864
ICAM5 intercellular adhesion molecule 5, telencephalin 2.22537
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 2.07341
LOC157273 uncharacterized LOC157273 2.00598
PSKH1 protein serine kinase H1 1.94711
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 1.92899
HECTD4 HECT domain containing E3 ubiquitin protein ligase 4 1.87013
S1PR2 sphingosine-1-phosphate receptor 2 1.85442
MRPL4 mitochondrial ribosomal protein L4 1.82205
GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 1.76312
HNF4A hepatocyte nuclear factor 4, alpha 1.65216
PNPLA3 patatin-like phospholipase domain containing 3 1.64634
LIPC lipase, hepatic 1.61133
APOB apolipoprotein B 1.57556
ICAM3 intercellular adhesion molecule 3 1.56699
F2 coagulation factor II (thrombin) 1.53619
FADS1 fatty acid desaturase 1 1.51152
LPL lipoprotein lipase 1.46011
PDE4A phosphodiesterase 4A, cAMP-specific 1.4135
APOC1 apolipoprotein C-I 1.30755
TTC39B tetratricopeptide repeat domain 39B 1.24634
CMIP c-Maf inducing protein 1.24634
RAVER1 ribonucleoprotein, PTB-binding 1 1.17397
PABPC4 poly(A) binding protein, cytoplasmic 4 (inducible form) 1.16893
UBE2L3 ubiquitin-conjugating enzyme E2L 3 1.16229
SH2B3 SH2B adaptor protein 3 1.10513
STARD3 StAR-related lipid transfer (START) domain containing 3 1.10395
ATXN2 ataxin 2 1.1017
TRPS1 trichorhinophalangeal syndrome I 1.09403
DOCK6 dedicator of cytokinesis 6 1.08585
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A 1.01465
CDC37 cell division cycle 37 0.995139
NUTF2 nuclear transport factor 2 0.967292
SLC39A8 solute carrier family 39 (zinc transporter), member 8 0.958374
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type 0.885698
ARL15 ADP-ribosylation factor-like 15 0.862805
SAMM50 SAMM50 sorting and assembly machinery component 0.855495
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2 0.79277
FPR3 formyl peptide receptor 3 0.742156
TBL2 transducin (beta)-like 2 0.698808
ABCA8 ATP-binding cassette, sub-family A (ABC1), member 8 0.668836
PARVB parvin, beta 0.653331
FAM13A family with sequence similarity 13, member A 0.63024
DAGLB diacylglycerol lipase, beta 0.621333
RBM5 RNA binding motif protein 5 0.612354
SNX13 sorting nexin 13 0.612354
NCAN neurocan 0.605297
PGS1 phosphatidylglycerophosphate synthase 1 0.593633
PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B) 0.558881
STAB1 stabilin 1 0.555775
KCTD10 potassium channel tetramerization domain containing 10 0.553014
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 0.550532
MARCH8 membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase 0.534605
SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 0.528549
MSRA methionine sulfoxide reductase A 0.526025
ZNF664 zinc finger protein 664 0.523865
PTPN11 protein tyrosine phosphatase, non-receptor type 11 0.517035
CPS1 carbamoyl-phosphate synthase 1, mitochondrial 0.498333
TYK2 tyrosine kinase 2 0.488671
C19ORF80 chromosome 19 open reading frame 80 0.484322
SETD2 SET domain containing 2 0.482571
PCIF1 PDX1 C-terminal inhibiting factor 1 0.482571
ANK2 ankyrin 2, neuronal 0.482493
DNAJC13 DnaJ (Hsp40) homolog, subfamily C, member 13 0.481235
FTO fat mass and obesity associated 0.47932
C1ORF220 chromosome 1 open reading frame 220 0.47932
COL19A1 collagen, type XIX, alpha 1 0.479163
SBNO1 strawberry notch homolog 1 (Drosophila) 0.478563
EGFR epidermal growth factor receptor 0.477705
GSK3B glycogen synthase kinase 3 beta 0.477278
RRNAD1 ribosomal RNA adenine dimethylase domain containing 1 0.472904
ANGPTL4 angiopoietin-like 4 0.472904
DPEP3 dipeptidase 3 0.470241
PCNXL3 pecanex-like 3 (Drosophila) 0.470241
NR1H3 nuclear receptor subfamily 1, group H, member 3 0.468362
ATG7 autophagy related 7 0.466852
LOC100507053 uncharacterized LOC100507053 0.466852
DPEP2 dipeptidase 2 0.464357
COL13A1 collagen, type XIII, alpha 1 0.456271
GFOD2 glucose-fructose oxidoreductase domain containing 2 0.456271
POU2F3 POU class 2 homeobox 3 0.452967
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) 0.44927
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2 0.44544
TP63 tumor protein p63 0.44419
FDFT1 farnesyl-diphosphate farnesyltransferase 1 0.442803
CRACR2A calcium release activated channel regulator 2A 0.441184
EHBP1L1 EH domain binding protein 1-like 1 0.439762
BTBD1 BTB (POZ) domain containing 1 0.439251
LOC100130357 uncharacterized LOC100130357 0.439073
WDR81 WD repeat domain 81 0.435536
FARP1 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 0.430311
SLC38A8 solute carrier family 38, member 8 0.430311
TMEM56-RWDD3 TMEM56-RWDD3 readthrough 0.430311
TBC1D7 TBC1 domain family, member 7 0.430138
PDE10A phosphodiesterase 10A 0.429856
ZNF236 zinc finger protein 236 0.426218
LOC643339 uncharacterized LOC643339 0.425585
LCP1 lymphocyte cytosolic protein 1 (L-plastin) 0.425585
MYO1H myosin IH 0.425585
FADS2 fatty acid desaturase 2 0.422054
ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 0.422054
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) 0.421256
PACRG PARK2 co-regulated 0.421199
KIF26B kinesin family member 26B 0.420671
FHOD3 formin homology 2 domain containing 3 0.419705
YIPF1 Yip1 domain family, member 1 0.419335
OAS3 2'-5'-oligoadenylate synthetase 3, 100kDa 0.417062
SH3RF1 SH3 domain containing ring finger 1 0.415589
DCLK1 doublecortin-like kinase 1 0.414949
MACROD2 MACRO domain containing 2 0.414949
SEL1L3 sel-1 suppressor of lin-12-like 3 (C. elegans) 0.414949
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 0.414949
NTRK3 neurotrophic tyrosine kinase, receptor, type 3 0.414949
C20ORF196 chromosome 20 open reading frame 196 0.413665
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) 0.412791
HERPUD1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 0.412143
SLC46A3 solute carrier family 46, member 3 0.411526
PEBP4 phosphatidylethanolamine-binding protein 4 0.4097
COL27A1 collagen, type XXVII, alpha 1 0.408812
ADAM12 ADAM metallopeptidase domain 12 0.40869
CNTN4 contactin 4 0.407465
CSMD1 CUB and Sushi multiple domains 1 0.405421
FBXL17 F-box and leucine-rich repeat protein 17 0.404761
ANGPT4 angiopoietin 4 0.404654
TRAPPC8 trafficking protein particle complex 8 0.404233
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 0.403229
SCN9A sodium channel, voltage gated, type IX alpha subunit 0.403132
TRPM3 transient receptor potential cation channel, subfamily M, member 3 0.402198
PTPRM protein tyrosine phosphatase, receptor type, M 0.401404
PCSK7 proprotein convertase subtilisin/kexin type 7 0.401234
RBMS3 RNA binding motif, single stranded interacting protein 3 0.400981
SCN3B sodium channel, voltage gated, type III beta subunit 0.40057
NEGR1 neuronal growth regulator 1 0.400328
MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 0.400169
TMEM120B transmembrane protein 120B 0.39874
LPAR1 lysophosphatidic acid receptor 1 0.398456
TNS3 tensin 3 0.396834
INVS inversin 0.395897
ERBB4 erb-b2 receptor tyrosine kinase 4 0.395413
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.394549
TMEM106B transmembrane protein 106B 0.394292
CLCN3 chloride channel, voltage-sensitive 3 0.394038
LDLR low density lipoprotein receptor 0.394038
NINL ninein-like 0.392306
DUOX1 dual oxidase 1 0.391802
SLIT2 slit homolog 2 (Drosophila) 0.391802
HAND2-AS1 HAND2 antisense RNA 1 (head to head) 0.39142
AUNIP aurora kinase A and ninein interacting protein 0.390837
POU1F1 POU class 1 homeobox 1 0.390734
KCNJ4 potassium channel, inwardly rectifying subfamily J, member 4 0.390024
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 0.389974
ZNF57 zinc finger protein 57 0.389827
PRKCE protein kinase C, epsilon 0.389631
CRX cone-rod homeobox 0.388966
SCNN1A sodium channel, non voltage gated 1 alpha subunit 0.388597
CERS6 ceramide synthase 6 0.38797
LRFN5 leucine rich repeat and fibronectin type III domain containing 5 0.387926
KIAA1671 KIAA1671 0.387926
DLG2 discs, large homolog 2 (Drosophila) 0.387324
NPAS3 neuronal PAS domain protein 3 0.38703
PCSK2 proprotein convertase subtilisin/kexin type 2 0.386989
SLC9A3R2 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2 0.386824
C1ORF110 chromosome 1 open reading frame 110 0.386338
MTFR1L mitochondrial fission regulator 1-like 0.385905
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein 0.385789
TEX10 testis expressed 10 0.385751
RMDN2 regulator of microtubule dynamics 2 0.38449
ECT2L epithelial cell transforming 2 like 0.383788
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 0.383222
PABPC1L poly(A) binding protein, cytoplasmic 1-like 0.383074
MECOM MDS1 and EVI1 complex locus 0.382566
LOXL2 lysyl oxidase-like 2 0.382036
PLB1 phospholipase B1 0.381691
RAB3C RAB3C, member RAS oncogene family 0.381453
SHROOM3 shroom family member 3 0.38142
SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 0.380856
PTPRD protein tyrosine phosphatase, receptor type, D 0.379871
CA12 carbonic anhydrase XII 0.379871
EXOC6 exocyst complex component 6 0.379686
PCDH9 protocadherin 9 0.378936
ASIC2 acid sensing (proton gated) ion channel 2 0.378877
TENM2 teneurin transmembrane protein 2 0.378472
SLC14A2 solute carrier family 14 (urea transporter), member 2 0.378272
GALNTL6 polypeptide N-acetylgalactosaminyltransferase-like 6 0.378272
MFHAS1 malignant fibrous histiocytoma amplified sequence 1 0.378215
PLCB4 phospholipase C, beta 4 0.378047
SORCS3 sortilin-related VPS10 domain containing receptor 3 0.377604
RASGRP4 RAS guanyl releasing protein 4 0.376724
ALK anaplastic lymphoma receptor tyrosine kinase 0.37621
GINS1 GINS complex subunit 1 (Psf1 homolog) 0.375909
LSAMP limbic system-associated membrane protein 0.375859
ERP44 endoplasmic reticulum protein 44 0.375129
KIRREL3 kin of IRRE like 3 (Drosophila) 0.374798
HPCAL1 hippocalcin-like 1 0.374473
ARHGAP25 Rho GTPase activating protein 25 0.374381
SYN3 synapsin III 0.374267
ZSCAN16 zinc finger and SCAN domain containing 16 0.374267
PARK2 parkin RBR E3 ubiquitin protein ligase 0.374267
SASH1 SAM and SH3 domain containing 1 0.374267
CAND1 cullin-associated and neddylation-dissociated 1 0.374267
SCN5A sodium channel, voltage gated, type V alpha subunit 0.374267
ATXN10 ataxin 10 0.374267
SLC44A4 solute carrier family 44, member 4 0.374109
MIER2 mesoderm induction early response 1, family member 2 0.374109
USP13 ubiquitin specific peptidase 13 (isopeptidase T-3) 0.374086
JARID2 jumonji, AT rich interactive domain 2 0.373796
LAMC1 laminin, gamma 1 (formerly LAMB2) 0.373358
PRG2 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) 0.373358
CCDC28A coiled-coil domain containing 28A 0.373337
HTT huntingtin 0.373272
TMEM132D transmembrane protein 132D 0.37325
RHOBTB1 Rho-related BTB domain containing 1 0.37325
FFAR4 free fatty acid receptor 4 0.37325
HCG18 HLA complex group 18 (non-protein coding) 0.37325
RCSD1 RCSD domain containing 1 0.37325
LOC729950 uncharacterized LOC729950 0.37325
EHMT2 euchromatic histone-lysine N-methyltransferase 2 0.37325
SHISA6 shisa family member 6 0.37325
DLGAP1 discs, large (Drosophila) homolog-associated protein 1 0.373229
ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 0.373229
LINC00483 long intergenic non-protein coding RNA 483 0.373229
KAZN kazrin, periplakin interacting protein 0.373229
CSMD3 CUB and Sushi multiple domains 3 0.372846
TRIB1 tribbles pseudokinase 1 0.372825
RYR2 ryanodine receptor 2 (cardiac) 0.372596
SDK1 sidekick cell adhesion molecule 1 0.372596
NUP93 nucleoporin 93kDa 0.372534
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.372451
CRYL1 crystallin, lambda 1 0.372431
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) 0.372247
SIK3 SIK family kinase 3 0.372045
ZNF212 zinc finger protein 212 0.371885
NTM neurotrimin 0.371865
SLC45A1 solute carrier family 45, member 1 0.371865
USP48 ubiquitin specific peptidase 48 0.371865
LINC00511 long intergenic non-protein coding RNA 511 0.371865
POLR2B polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 0.371865
SCAPER S-phase cyclin A-associated protein in the ER 0.371865
PDGFC platelet derived growth factor C 0.371865
ZNF282 zinc finger protein 282 0.371865
CGNL1 cingulin-like 1 0.371865
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 0.371865
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 0.371865
LOC100132891 0.371865
CELF2 CUGBP, Elav-like family member 2 0.371865
PDE4D phosphodiesterase 4D, cAMP-specific 0.371865
DSCAM Down syndrome cell adhesion molecule 0.371865
CCR6 chemokine (C-C motif) receptor 6 0.371865
C4ORF50 chromosome 4 open reading frame 50 0.371865
GPM6A glycoprotein M6A 0.371865
TRIOBP TRIO and F-actin binding protein 0.371865
SYVN1 synovial apoptosis inhibitor 1, synoviolin 0.371865
PRKCB protein kinase C, beta 0.371785
TTPAL tocopherol (alpha) transfer protein-like 0.371785
FLRT3 fibronectin leucine rich transmembrane protein 3 0.371785
LRP1B low density lipoprotein receptor-related protein 1B 0.371785
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11 0.371785
SLC7A8 solute carrier family 7 (amino acid transporter light chain, L system), member 8 0.371785
PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 0.371785
SH2D3C SH2 domain containing 3C 0.371785
PALLD palladin, cytoskeletal associated protein 0.371785
ROR2 receptor tyrosine kinase-like orphan receptor 2 0.371785
NCLN nicalin 0.371785
IGF1R insulin-like growth factor 1 receptor 0.371785
BANF2 barrier to autointegration factor 2 0.371785
ARHGAP42 Rho GTPase activating protein 42 0.371785
RAB31 RAB31, member RAS oncogene family 0.371785
ELOVL6 ELOVL fatty acid elongase 6 0.371785
CNGB1 cyclic nucleotide gated channel beta 1 0.371785
DRC1 dynein regulatory complex subunit 1 0.371785
ESR1 estrogen receptor 1 0.371785
PIEZO2 piezo-type mechanosensitive ion channel component 2 0.371785
SBF2 SET binding factor 2 0.371785
NELL1 NEL-like 1 (chicken) 0.371785
TCTN2 tectonic family member 2 0.371785
MCF2L MCF.2 cell line derived transforming sequence-like 0.371785
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) 0.371785
DZANK1 double zinc ribbon and ankyrin repeat domains 1 0.371785
CER1 cerberus 1, DAN family BMP antagonist 0.371785
ADAMTSL4 ADAMTS-like 4 0.371785
DIAPH3 diaphanous-related formin 3 0.371785
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) 0.371785
NUSAP1 nucleolar and spindle associated protein 1 0.371785
KLRC1 killer cell lectin-like receptor subfamily C, member 1 0.371785
RBFOX3 RNA binding protein, fox-1 homolog (C. elegans) 3 0.371785
EFNA1 ephrin-A1 0.371785
FAN1 FANCD2/FANCI-associated nuclease 1 0.371785
UST uronyl-2-sulfotransferase 0.371785
STK19 serine/threonine kinase 19 0.371785
KIAA0355 KIAA0355 0.371588
CD48 CD48 molecule 0.371549
MAP3K7 mitogen-activated protein kinase kinase kinase 7 0.371529
EPHA5 EPH receptor A5 0.371529
RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2 0.371529
LAMC2 laminin, gamma 2 0.371529
TJP2 tight junction protein 2 0.371529
ARID5B AT rich interactive domain 5B (MRF1-like) 0.371529
C7ORF33 chromosome 7 open reading frame 33 0.371471
MYO5C myosin VC 0.371471
TIAM1 T-cell lymphoma invasion and metastasis 1 0.371471
ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 0.371412
FLJ45831 0.371412
TMEM132B transmembrane protein 132B 0.371412
HOPX HOP homeobox 0.371393
MKLN1 muskelin 1, intracellular mediator containing kelch motifs 0.371393
LRRC2 leucine rich repeat containing 2 0.371393
COL4A1 collagen, type IV, alpha 1 0.371393
FRMD6 FERM domain containing 6 0.371393
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5 0.371393
GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 0.371393
ELAVL2 ELAV like neuron-specific RNA binding protein 2 0.371393
LOC100506207 uncharacterized LOC100506207 0.371393
GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 0.371393
PRKDC protein kinase, DNA-activated, catalytic polypeptide 0.371393
MIR31HG MIR31 host gene 0.371393
LINC00536 long intergenic non-protein coding RNA 536 0.371393
ZSCAN23 zinc finger and SCAN domain containing 23 0.371393
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6 0.371393
NALCN sodium leak channel, non selective 0.371393
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 0.371393
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa 0.371393
BCAT1 branched chain amino-acid transaminase 1, cytosolic 0.371393
THTPA thiamine triphosphatase 0.371393
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 0.371393
ENPEP glutamyl aminopeptidase (aminopeptidase A) 0.371393
ACER2 alkaline ceramidase 2 0.371393
FUT8 fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 0.371335
TPRG1 tumor protein p63 regulated 1 0.371296
SEMA5B sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 0.371239
TMEM56 transmembrane protein 56 0.371181
NRG1 neuregulin 1 0.371104
NCAM1 neural cell adhesion molecule 1 0.371085
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 0.371085
EYS eyes shut homolog (Drosophila) 0.371085
MYOM3 myomesin 3 0.371085
SLC15A2 solute carrier family 15 (oligopeptide transporter), member 2 0.371028
TMEM163 transmembrane protein 163 0.371028
IQGAP1 IQ motif containing GTPase activating protein 1 0.371028
GPR139 G protein-coupled receptor 139 0.37099
IPO8 importin 8 0.370931
HHAT hedgehog acyltransferase 0.370931
CDH4 cadherin 4, type 1, R-cadherin (retinal) 0.3675
TECRL trans-2,3-enoyl-CoA reductase-like 0.363089
FAM208A family with sequence similarity 208, member A 0.360411
ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 0.357582
PLD5 phospholipase D family, member 5 0.357293
GCKR glucokinase (hexokinase 4) regulator 0.35206
CC2D2A coiled-coil and C2 domain containing 2A 0.351571
ATXN7L1 ataxin 7-like 1 0.351331
ZHX2 zinc fingers and homeoboxes 2 0.349653
PTPRG protein tyrosine phosphatase, receptor type, G 0.347243
RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 0.340501
RYR3 ryanodine receptor 3 0.32856