Xanthomatosis Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0043325
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Genes

57 genes associated with the disease Xanthomatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ACAT1 acetyl-CoA acetyltransferase 1
APOA1 apolipoprotein A-I
APOC2 apolipoprotein C-II
APOE apolipoprotein E
B4GALNT2 beta-1,4-N-acetyl-galactosaminyl transferase 2
BGLAP bone gamma-carboxyglutamate (gla) protein
CFB complement factor B
CTSK cathepsin K
CXCL10 chemokine (C-X-C motif) ligand 10
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
FGFR1 fibroblast growth factor receptor 1
FTO fat mass and obesity associated
G6PC glucose-6-phosphatase, catalytic subunit
HLA-A major histocompatibility complex, class I, A
HNF4A hepatocyte nuclear factor 4, alpha
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNG interferon, gamma
IL10 interleukin 10
IL2 interleukin 2
IL6 interleukin 6
INSL6 insulin-like 6
JAG1 jagged 1
KRAS Kirsten rat sarcoma viral oncogene homolog
LDLR low density lipoprotein receptor
LMNA lamin A/C
MBD2 methyl-CpG binding domain protein 2
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NR1H4 nuclear receptor subfamily 1, group H, member 4
OCLN occludin
PCSK9 proprotein convertase subtilisin/kexin type 9
POU2F2 POU class 2 homeobox 2
PPARG peroxisome proliferator-activated receptor gamma
PTGDS prostaglandin D2 synthase 21kDa (brain)
PTH parathyroid hormone
SIRT1 sirtuin 1
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1
SLC22A2 solute carrier family 22 (organic cation transporter), member 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SOAT1 sterol O-acyltransferase 1
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SSPN sarcospan
TNF tumor necrosis factor
TP53 tumor protein p53
UTRN utrophin
XPR1 xenotropic and polytropic retrovirus receptor 1