Xanthomatosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. (Human Disease Ontology, DOID_3345)
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Genes

235 genes co-occuring with the disease Xanthomatosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 3.492
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 2.628
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 2.575
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 2.526
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 2.443
CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1 2.35
APOB apolipoprotein B 2.249
CYP39A1 cytochrome P450, family 39, subfamily A, polypeptide 1 2.234
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 2.229
NSDHL NAD(P) dependent steroid dehydrogenase-like 2.2
LIPA lipase A, lysosomal acid, cholesterol esterase 2.167
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 2.158
CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1 2.151
SPG11 spastic paraplegia 11 (autosomal recessive) 2.149
LDLRAP1 low density lipoprotein receptor adaptor protein 1 2.124
AKR1D1 aldo-keto reductase family 1, member D1 2.117
CD68 CD68 molecule 2.106
NPC1 Niemann-Pick disease, type C1 2.081
NPC2 Niemann-Pick disease, type C2 2.059
LDLR low density lipoprotein receptor 2.036
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 2.025
POLG polymerase (DNA directed), gamma 2.018
APOE apolipoprotein E 2.016
FDX1 ferredoxin 1 2.013
DHCR7 7-dehydrocholesterol reductase 1.995
CH25H cholesterol 25-hydroxylase 1.971
PCSK9 proprotein convertase subtilisin/kexin type 9 1.96
NR1H4 nuclear receptor subfamily 1, group H, member 4 1.96
BAAT bile acid CoA:amino acid N-acyltransferase 1.924
SPAST spastin 1.909
GPR183 G protein-coupled receptor 183 1.84
MTTP microsomal triglyceride transfer protein 1.836
GALC galactosylceramidase 1.836
NPC1L1 NPC1-like 1 1.833
ACOX2 acyl-CoA oxidase 2, branched chain 1.829
APOA1 apolipoprotein A-I 1.786
TTPA tocopherol (alpha) transfer protein 1.785
SACS sacsin molecular chaperone 1.766
LPL lipoprotein lipase 1.765
APTX aprataxin 1.755
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 1.748
FXN frataxin 1.739
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 1.735
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 1.727
GBA2 glucosidase, beta (bile acid) 2 1.712
EBP emopamil binding protein (sterol isomerase) 1.709
XPR1 xenotropic and polytropic retrovirus receptor 1 1.705
NR1I2 nuclear receptor subfamily 1, group I, member 2 1.691
ATXN7 ataxin 7 1.684
SOAT1 sterol O-acyltransferase 1 1.684
AARS2 alanyl-tRNA synthetase 2, mitochondrial 1.656
CRYBA1 crystallin, beta A1 1.609
PPIG peptidylprolyl isomerase G (cyclophilin G) 1.609
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 1.609
AKR1E2 aldo-keto reductase family 1, member E2 1.604
APOC2 apolipoprotein C-II 1.585
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1 1.582
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1 1.582
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1.579
LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 1.569
DHCR24 24-dehydrocholesterol reductase 1.563
COQ8A coenzyme Q8A 1.556
WDR87 WD repeat domain 87 1.553
GPBAR1 G protein-coupled bile acid receptor 1 1.552
PNPLA6 patatin-like phospholipase domain containing 6 1.55
AFG3L2 AFG3-like AAA ATPase 2 1.55
CD1E CD1e molecule 1.55
CD1A CD1a molecule 1.539
SETX senataxin 1.535
CD1B CD1b molecule 1.532
ARSA arylsulfatase A 1.529
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 1.527
POLR3B polymerase (RNA) III (DNA directed) polypeptide B 1.498
GJC2 gap junction protein, gamma 2, 47kDa 1.498
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 1.498
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 1.496
LMF1 lipase maturation factor 1 1.492
ADSL adenylosuccinate lyase 1.486
FDXR ferredoxin reductase 1.483
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome) 1.479
SCP2 sterol carrier protein 2 1.47
CD1C CD1c molecule 1.468
SREBF2 sterol regulatory element binding transcription factor 2 1.464
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 1.461
APOA5 apolipoprotein A-V 1.458
GALK1 galactokinase 1 1.452
AMACR alpha-methylacyl-CoA racemase 1.435
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 1.431
DDHD2 DDHD domain containing 2 1.43
NR0B2 nuclear receptor subfamily 0, group B, member 2 1.429
FA2H fatty acid 2-hydroxylase 1.427
MYLIP myosin regulatory light chain interacting protein 1.419
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 1.418
PNPLA5 patatin-like phospholipase domain containing 5 1.408
CD1D CD1d molecule 1.405
ATP7B ATPase, Cu++ transporting, beta polypeptide 1.402
REEP1 receptor accessory protein 1 1.4
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 1.397
GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 1.393
ANGPTL3 angiopoietin-like 3 1.391
PTRHD1 peptidyl-tRNA hydrolase domain containing 1 1.386
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 1.381
OTC ornithine carbamoyltransferase 1.381
ATL1 atlastin GTPase 1 1.38
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1 1.378
SERAC1 serine active site containing 1 1.377
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2 1.371
SPTBN2 spectrin, beta, non-erythrocytic 2 1.365
PLP1 proteolipid protein 1 1.358
ELOVL1 ELOVL fatty acid elongase 1 1.351
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1 1.344
CRYAA crystallin, alpha A 1.343
SUOX sulfite oxidase 1.331
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1.33
CHIT1 chitinase 1 (chitotriosidase) 1.324
COG1 component of oligomeric golgi complex 1 1.322
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5 1.32
TMEM63A transmembrane protein 63A 1.314
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 1.311
ASPA aspartoacylase 1.309
ELOVL4 ELOVL fatty acid elongase 4 1.307
GCDH glutaryl-CoA dehydrogenase 1.305
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 1.305
NYNRIN NYN domain and retroviral integrase containing 1.297
ATXN10 ataxin 10 1.297
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 1.295
BFSP2 beaded filament structural protein 2, phakinin 1.294
CP ceruloplasmin (ferroxidase) 1.293
DHRS9 dehydrogenase/reductase (SDR family) member 9 1.287
STOM stomatin 1.282
AKR1C4 aldo-keto reductase family 1, member C4 1.274
SLC51A solute carrier family 51, alpha subunit 1.274
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 1.269
UGT3A1 UDP glycosyltransferase 3 family, polypeptide A1 1.268
LCAT lecithin-cholesterol acyltransferase 1.267
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 1.267
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 1.267
PHYH phytanoyl-CoA 2-hydroxylase 1.267
APOC3 apolipoprotein C-III 1.265
STAR steroidogenic acute regulatory protein 1.257
SOAT2 sterol O-acyltransferase 2 1.248
SCARB1 scavenger receptor class B, member 1 1.248
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) 1.235
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 1.233
TMEM106B transmembrane protein 106B 1.233
SCAP SREBF chaperone 1.228
LYST lysosomal trafficking regulator 1.223
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 1.222
ABCG4 ATP-binding cassette, sub-family G (WHITE), member 4 1.222
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 1.22
PANK1 pantothenate kinase 1 1.214
LIPG lipase, endothelial 1.213
ALB albumin 1.212
NR1H3 nuclear receptor subfamily 1, group H, member 3 1.209
BTD biotinidase 1.207
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2 1.204
ZFYVE26 zinc finger, FYVE domain containing 26 1.198
TTBK2 tau tubulin kinase 2 1.194
CD163 CD163 molecule 1.191
POLR3K polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa 1.189
CRYBB2 crystallin, beta B2 1.188
KIF1A kinesin family member 1A 1.183
APP amyloid beta (A4) precursor protein 1.18
STARD3 StAR-related lipid transfer (START) domain containing 3 1.174
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 1.173
CLCN2 chloride channel, voltage-sensitive 2 1.172
ATXN2 ataxin 2 1.171
CETP cholesteryl ester transfer protein, plasma 1.166
ANO10 anoctamin 10 1.162
HIKESHI heat shock protein nuclear import factor hikeshi 1.157
APOA2 apolipoprotein A-II 1.157
SREBF1 sterol regulatory element binding transcription factor 1 1.156
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 1.155
FDFT1 farnesyl-diphosphate farnesyltransferase 1 1.154
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant 1.151
CRYBB1 crystallin, beta B1 1.15
GBE1 glucan (1,4-alpha-), branching enzyme 1 1.145
XCR1 chemokine (C motif) receptor 1 1.141
GAMT guanidinoacetate N-methyltransferase 1.139
BCKDK branched chain ketoacid dehydrogenase kinase 1.138
POLR1C polymerase (RNA) I polypeptide C, 30kDa 1.138
C9ORF72 chromosome 9 open reading frame 72 1.137
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 1.136
LPA lipoprotein, Lp(a) 1.136
STAP1 signal transducing adaptor family member 1 1.132
GJA3 gap junction protein, alpha 3, 46kDa 1.13
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) 1.129
ALDH3A2 aldehyde dehydrogenase 3 family, member A2 1.125
STARD4 StAR-related lipid transfer (START) domain containing 4 1.122
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 1.111
SLC51B solute carrier family 51, beta subunit 1.109
SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 1.109
COG8 component of oligomeric golgi complex 8 1.1
SLCO1B1 solute carrier organic anion transporter family, member 1B1 1.098
INSIG1 insulin induced gene 1 1.097
OSBP oxysterol binding protein 1.095
SQLE squalene epoxidase 1.093
SNCA synuclein, alpha (non A4 component of amyloid precursor) 1.091
ELOVL5 ELOVL fatty acid elongase 5 1.087
TUBB4A tubulin, beta 4A class IVa 1.085
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3 1.08
INS insulin 1.08
CTSA cathepsin A 1.08
BFSP1 beaded filament structural protein 1, filensin 1.078
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 1.075
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 1.072
KIF5A kinesin family member 5A 1.068
TMEM240 transmembrane protein 240 1.065
MSMO1 methylsterol monooxygenase 1 1.06
TBCK TBC1 domain containing kinase 1.056
DDHD1 DDHD domain containing 1 1.056
SPART spartin 1.054
REEP2 receptor accessory protein 2 1.049
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1.049
MLYCD malonyl-CoA decarboxylase 1.049
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 1.048
ATXN1 ataxin 1 1.045
MYO5B myosin VB 1.041
PSAP prosaposin 1.04
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 1.033
STARD6 StAR-related lipid transfer (START) domain containing 6 1.027
PEX7 peroxisomal biogenesis factor 7 1.026
LIPC lipase, hepatic 1.025
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 1.024
TJP2 tight junction protein 2 1.022
L2HGDH L-2-hydroxyglutarate dehydrogenase 1.021
PLTP phospholipid transfer protein 1.018
CRYBB3 crystallin, beta B3 1.015
RNF220 ring finger protein 220 1.012
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit 1.011
TPP1 tripeptidyl peptidase I 1.01
HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 1.009
PEX16 peroxisomal biogenesis factor 16 1.008
NOP56 NOP56 ribonucleoprotein 1.007
SORT1 sortilin 1 1.0