abnormal large intestine morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the portion of the digestive tube extending from the ileocecal valve to the anus, consisting of the cecum, colon, rectum and anal canal (Mammalian Phenotype Ontology, MP_0000489)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000489
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Genes

120 gene mutations causing the abnormal large intestine morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
AEBP2 AE binding protein 2
AGR2 anterior gradient 2
AHR aryl hydrocarbon receptor
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
ANXA1 annexin A1
APC adenomatous polyposis coli
ARAF A-Raf proto-oncogene, serine/threonine kinase
AXIN1 axin 1
B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6
BCAM basal cell adhesion molecule (Lutheran blood group)
BDNF brain-derived neurotrophic factor
CBX2 chromobox homolog 2
CDX2 caudal type homeobox 2
CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CYLD cylindromatosis (turban tumor syndrome)
DACT1 dishevelled-binding antagonist of beta-catenin 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EGFR epidermal growth factor receptor
EPCAM epithelial cell adhesion molecule
ERRFI1 ERBB receptor feedback inhibitor 1
ESR2 estrogen receptor 2 (ER beta)
FERMT1 fermitin family member 1
FFAR2 free fatty acid receptor 2
FGF10 fibroblast growth factor 10
FGF9 fibroblast growth factor 9
FGFR2 fibroblast growth factor receptor 2
FPR2 formyl peptide receptor 2
FREM1 FRAS1 related extracellular matrix 1
GAST gastrin
GDF11 growth differentiation factor 11
GDNF glial cell derived neurotrophic factor
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough
GLI3 GLI family zinc finger 3
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
GUCA2A guanylate cyclase activator 2A (guanylin)
GUCY1B3 guanylate cyclase 1, soluble, beta 3
HDAC2 histone deacetylase 2
HOXA13 homeobox A13
HOXD13 homeobox D13
HR hair growth associated
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
IHH indian hedgehog
IL10 interleukin 10
IL10RB interleukin 10 receptor, beta
IL17RE interleukin 17 receptor E
IL2 interleukin 2
IL22 interleukin 22
IL2RG interleukin 2 receptor, gamma
IL6ST interleukin 6 signal transducer
JAK3 Janus kinase 3
KIF26A kinesin family member 26A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLF4 Kruppel-like factor 4 (gut)
KLF5 Kruppel-like factor 5 (intestinal)
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT8 keratin 8, type II
LEFTY2 left-right determination factor 2
LOXL1 lysyl oxidase-like 1
LTB lymphotoxin beta (TNF superfamily, member 3)
LTBP4 latent transforming growth factor beta binding protein 4
MAP3K8 mitogen-activated protein kinase kinase kinase 8
MARK2 MAP/microtubule affinity-regulating kinase 2
MCM2 minichromosome maintenance complex component 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MSH2 mutS homolog 2
MUC2 mucin 2, oligomeric mucus/gel-forming
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NFIL3 nuclear factor, interleukin 3 regulated
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NKX2-3 NK2 homeobox 3
NLRP6 NLR family, pyrin domain containing 6
NR1H4 nuclear receptor subfamily 1, group H, member 4
NR5A2 nuclear receptor subfamily 5, group A, member 2
PCSK5 proprotein convertase subtilisin/kexin type 5
PLAU plasminogen activator, urokinase
PLG plasminogen
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PYCARD PYD and CARD domain containing
RAD23B RAD23 homolog B (S. cerevisiae)
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RET ret proto-oncogene
RORC RAR-related orphan receptor C
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
RUNX3 runt-related transcription factor 3
SALL4 spalt-like transcription factor 4
SAV1 salvador family WW domain containing protein 1
SESTD1 SEC14 and spectrin domains 1
SHH sonic hedgehog
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3
SLC9A8 solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SOX10 SRY (sex determining region Y)-box 10
STK11 serine/threonine kinase 11
STX2 syntaxin 2
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TGFB1 transforming growth factor, beta 1
TLR2 toll-like receptor 2
TLX2 T-cell leukemia homeobox 2
TMPO thymopoietin
TP53 tumor protein p53
TP63 tumor protein p63
TSTA3 tissue specific transplantation antigen P35B
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VIPR1 vasoactive intestinal peptide receptor 1
WNT5A wingless-type MMTV integration site family, member 5A
YIPF6 Yip1 domain family, member 6