cerebrotendinous xanthomatosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma. (Human Disease Ontology, DOID_4810)
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Genes

44 genes co-occuring with the disease cerebrotendinous 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 3.67542
FDX1 ferredoxin 1 1.55956
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 1.5476
CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1 1.1051
GPR183 G protein-coupled receptor 183 1.05723
NR1H4 nuclear receptor subfamily 1, group H, member 4 0.89623
TTPA tocopherol (alpha) transfer protein 0.876966
NR1I2 nuclear receptor subfamily 1, group I, member 2 0.851583
PMF1 polyamine-modulated factor 1 0.841753
AKR1D1 aldo-keto reductase family 1, member D1 0.830279
DHRS9 dehydrogenase/reductase (SDR family) member 9 0.714408
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 0.664372
SCP2 sterol carrier protein 2 0.632777
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1 0.631991
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 0.608885
ASL argininosuccinate lyase 0.584719
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 0.579272
VCL vinculin 0.564889
GUSB glucuronidase, beta 0.541605
DHCR24 24-dehydrocholesterol reductase 0.520346
APOA2 apolipoprotein A-II 0.498849
FLNB filamin B, beta 0.493503
HEXA hexosaminidase A (alpha polypeptide) 0.483604
NR0B2 nuclear receptor subfamily 0, group B, member 2 0.477909
NR1H3 nuclear receptor subfamily 1, group H, member 3 0.471468
APOD apolipoprotein D 0.449571
APOA4 apolipoprotein A-IV 0.443171
PEPD peptidase D 0.424389
APOB apolipoprotein B 0.377031
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1 0.353395
ISL1 ISL LIM homeobox 1 0.349717
MFGE8 milk fat globule-EGF factor 8 protein 0.324458
CFB complement factor B 0.298011
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 0.289027
GPANK1 G patch domain and ankyrin repeats 1 0.270108
AMACR alpha-methylacyl-CoA racemase 0.26266
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 0.241196
C9ORF72 chromosome 9 open reading frame 72 0.230409
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 0.227297
HLA-E major histocompatibility complex, class I, E 0.212945
SP1 Sp1 transcription factor 0.188938
MAOA monoamine oxidase A 0.180937
APOA1 apolipoprotein A-I 0.169812
C6ORF25 chromosome 6 open reading frame 25 0.159838