protuberant abdomen Gene Set
Genes
16 genes associated with the protuberant abdomen phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
BMPER
|
BMP binding endothelial regulator
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
GBA
|
glucosidase, beta, acid
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
IFT122
|
intraflagellar transport 122
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
