distended abdomen Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Distention of the abdomen. (Human Phenotype Ontology, HP_0003270)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001270
Similar Terms
Downloads & Tools

Genes

61 gene mutations causing the distended abdomen phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
AEBP2 AE binding protein 2
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AQP2 aquaporin 2 (collecting duct)
ARL3 ADP-ribosylation factor-like 3
BICC1 BicC family RNA binding protein 1
BNC2 basonuclin 2
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CENPJ centromere protein J
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CREB3L2 cAMP responsive element binding protein 3-like 2
CYS1 cystin 1
DLG1 discs, large homolog 1 (Drosophila)
DLX2 distal-less homeobox 2
DLX5 distal-less homeobox 5
EPHA1 EPH receptor A1
FAM20C family with sequence similarity 20, member C
FECH ferrochelatase
FES FES proto-oncogene, tyrosine kinase
FEZF1 FEZ family zinc finger 1
FOXD1 forkhead box D1
FOXF2 forkhead box F2
FOXP3 forkhead box P3
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GLG1 golgi glycoprotein 1
GPC3 glypican 3
HOXA2 homeobox A2
HOXA3 homeobox A3
HOXA5 homeobox A5
ISL2 ISL LIM homeobox 2
ITPKB inositol-trisphosphate 3-kinase B
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LGR5 leucine-rich repeat containing G protein-coupled receptor 5
LPIN1 lipin 1
MCOLN1 mucolipin 1
NAGLU N-acetylglucosaminidase, alpha
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NPHP3 nephronophthisis 3 (adolescent)
NPR2 natriuretic peptide receptor 2
OTX1 orthodenticle homeobox 1
PAX9 paired box 9
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLVAP plasmalemma vesicle associated protein
PRDM16 PR domain containing 16
PRRX1 paired related homeobox 1
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RET ret proto-oncogene
RFX6 regulatory factor X, 6
SCARB2 scavenger receptor class B, member 2
SIM2 single-minded family bHLH transcription factor 2
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SMAD3 SMAD family member 3
SOX18 SRY (sex determining region Y)-box 18
SOX9 SRY (sex determining region Y)-box 9
STK11 serine/threonine kinase 11
TCOF1 Treacher Collins-Franceschetti syndrome 1
TLX2 T-cell leukemia homeobox 2
TP63 tumor protein p63
ZEB1 zinc finger E-box binding homeobox 1