abdominal distention Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Distention of the abdomen. (Human Phenotype Ontology, HP_0003270)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003270
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Genes

33 genes associated with the abdominal distention 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
FLNA filamin A, alpha
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
INSR insulin receptor
KRT18 keratin 18, type I
KRT8 keratin 8, type II
LIPA lipase A, lysosomal acid, cholesterol esterase
MNX1 motor neuron and pancreas homeobox 1
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
PAX8 paired box 8
POLG polymerase (DNA directed), gamma
PRKCSH protein kinase C substrate 80K-H
SEC63 SEC63 homolog (S. cerevisiae)
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SPINT2 serine peptidase inhibitor, Kunitz type, 2
TRIP11 thyroid hormone receptor interactor 11
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
ZEB2 zinc finger E-box binding homeobox 2