xanthomatosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
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

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

Symbol Name Standardized Value
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 3.38083
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 1.51677
NSDHL NAD(P) dependent steroid dehydrogenase-like 1.47198
FDX1 ferredoxin 1 1.40745
LDLR low density lipoprotein receptor 1.2582
CD68 CD68 molecule 1.12783
APOB apolipoprotein B 1.12783
COG1 component of oligomeric golgi complex 1 1.09503
APOE apolipoprotein E 1.0324
CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1 0.959542
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 0.935799
GPR183 G protein-coupled receptor 183 0.912257
LPL lipoprotein lipase 0.870415
BAAT bile acid CoA:amino acid N-acyltransferase 0.855677
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5 0.849536
ATCAY ataxia, cerebellar, Cayman type 0.799513
LDLRAP1 low density lipoprotein receptor adaptor protein 1 0.768801
ALDH4A1 aldehyde dehydrogenase 4 family, member A1 0.761047
NR1H4 nuclear receptor subfamily 1, group H, member 4 0.754934
TTPA tocopherol (alpha) transfer protein 0.735433
NR1I2 nuclear receptor subfamily 1, group I, member 2 0.710378
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 0.710378
PMF1 polyamine-modulated factor 1 0.701124
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 0.689492
AKR1D1 aldo-keto reductase family 1, member D1 0.689492
AP2B1 adaptor-related protein complex 2, beta 1 subunit 0.59874
AMT aminomethyltransferase 0.583163
APOA2 apolipoprotein A-II 0.581606
DHRS9 dehydrogenase/reductase (SDR family) member 9 0.577716
LGALS7B lectin, galactoside-binding, soluble, 7B 0.573439
LPA lipoprotein, Lp(a) 0.542767
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 0.529222
SCP2 sterol carrier protein 2 0.498467
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1 0.497703
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 0.475255
RGMB repulsive guidance molecule family member b 0.467306
CD79A CD79a molecule, immunoglobulin-associated alpha 0.455224
ASL argininosuccinate lyase 0.452208
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 0.446558
LPIN1 lipin 1 0.442795
VCL vinculin 0.432646
MSR1 macrophage scavenger receptor 1 0.419517
GUSB glucuronidase, beta 0.410535
PCSK9 proprotein convertase subtilisin/kexin type 9 0.407545
ACOT13 acyl-CoA thioesterase 13 0.393374
DHCR24 24-dehydrocholesterol reductase 0.389653
APOA1 apolipoprotein A-I 0.372587
FDFT1 farnesyl-diphosphate farnesyltransferase 1 0.364085
FLNB filamin B, beta 0.363716
CD163 CD163 molecule 0.357077
HEXA hexosaminidase A (alpha polypeptide) 0.354131
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 0.348981
NR0B2 nuclear receptor subfamily 0, group B, member 2 0.348614
CDH3 cadherin 3, type 1, P-cadherin (placental) 0.346042
LCAT lecithin-cholesterol acyltransferase 0.34384
NR1H3 nuclear receptor subfamily 1, group H, member 3 0.342739
SACS sacsin molecular chaperone 0.339073
APOD apolipoprotein D 0.321181
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 0.317545
APOA4 apolipoprotein A-IV 0.315003
COG2 component of oligomeric golgi complex 2 0.307757
G6PC glucose-6-phosphatase, catalytic subunit 0.302698
PEPD peptidase D 0.296931
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 0.253127
LYZ lysozyme 0.245396
PGM1 phosphoglucomutase 1 0.234225
NPTX2 neuronal pentraxin II 0.232489
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 0.230063
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1 0.22937
SCARB2 scavenger receptor class B, member 2 0.229024
ISL1 ISL LIM homeobox 1 0.226262
S100A9 S100 calcium binding protein A9 0.222479
CD36 CD36 molecule (thrombospondin receptor) 0.214975
MFGE8 milk fat globule-EGF factor 8 protein 0.202618
HAVCR1 hepatitis A virus cellular receptor 1 0.191408
C10ORF2 chromosome 10 open reading frame 2 0.188022
GP6 glycoprotein VI (platelet) 0.185313
CFB complement factor B 0.180367
SCARB1 scavenger receptor class B, member 1 0.180367
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 0.173314
GP5 glycoprotein V (platelet) 0.173314
LGALS7 lectin, galactoside-binding, soluble, 7 0.166995
TES testin LIM domain protein 0.165001
CHIT1 chitinase 1 (chitotriosidase) 0.163938
GPANK1 G patch domain and ankyrin repeats 1 0.161331
POLG polymerase (DNA directed), gamma 0.160387
AMACR alpha-methylacyl-CoA racemase 0.157602
HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 0.144414
ENO2 enolase 2 (gamma, neuronal) 0.143082
PTPRC protein tyrosine phosphatase, receptor type, C 0.142642
CCL2 chemokine (C-C motif) ligand 2 0.142485
PCNA proliferating cell nuclear antigen 0.142139
MMP2 matrix metallopeptidase 2 0.141736
CCR2 chemokine (C-C motif) receptor 2 0.141689
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 0.138917
C9ORF72 chromosome 9 open reading frame 72 0.138539
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 0.138425
HLA-E major histocompatibility complex, class I, E 0.137863
SP1 Sp1 transcription factor 0.136746
MAOA monoamine oxidase A 0.136292
C6ORF25 chromosome 6 open reading frame 25 0.134581