xanthomatosis Gene Set
Genes
14 genes associated with the xanthomatosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
APOB
|
apolipoprotein B
|
|
APOC2
|
apolipoprotein C-II
|
|
APOE
|
apolipoprotein E
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
EPHX2
|
epoxide hydrolase 2, cytoplasmic
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
LDLR
|
low density lipoprotein receptor
|
|
LDLRAP1
|
low density lipoprotein receptor adaptor protein 1
|
|
LIPC
|
lipase, hepatic
|
|
LMNA
|
lamin A/C
|
|
LPL
|
lipoprotein lipase
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
