abnormal intestine morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the digestive tube passing from the stomach to the anus, consisting of the small and large intestine divisions (Mammalian Phenotype Ontology, MP_0000477)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000477
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Genes

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

Symbol Name
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
AEBP1 AE binding protein 1
AEBP2 AE binding protein 2
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGR2 anterior gradient 2
AHR aryl hydrocarbon receptor
ALPL alkaline phosphatase, liver/bone/kidney
ANGPT2 angiopoietin 2
ANGPTL4 angiopoietin-like 4
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
ATG14 autophagy related 14
ATG16L1 autophagy related 16-like 1 (S. cerevisiae)
AXIN1 axin 1
B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BCAM basal cell adhesion molecule (Lutheran blood group)
BCL2 B-cell CLL/lymphoma 2
BCR breakpoint cluster region
BDNF brain-derived neurotrophic factor
BMP1 bone morphogenetic protein 1
BRCA1 breast cancer 1, early onset
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C3 complement component 3
C4A complement component 4A (Rodgers blood group)
CA2 carbonic anhydrase II
CA9 carbonic anhydrase IX
CBFA2T2 core-binding factor, runt domain, alpha subunit 2; translocated to, 2
CBX2 chromobox homolog 2
CCNE1 cyclin E1
CCNG1 cyclin G1
CD36 CD36 molecule (thrombospondin receptor)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDX2 caudal type homeobox 2
CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CGN cingulin
CHUK conserved helix-loop-helix ubiquitous kinase
CLCN3 chloride channel, voltage-sensitive 3
CLDN15 claudin 15
COL3A1 collagen, type III, alpha 1
CRB3 crumbs family member 3
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSD cathepsin D
CX3CR1 chemokine (C-X3-C motif) receptor 1
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYLD cylindromatosis (turban tumor syndrome)
DACT1 dishevelled-binding antagonist of beta-catenin 1
DCHS1 dachsous cadherin-related 1
DLG1 discs, large homolog 1 (Drosophila)
DNAH11 dynein, axonemal, heavy chain 11
E2F4 E2F transcription factor 4, p107/p130-binding
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EGFR epidermal growth factor receptor
ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific )
ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7
EP300 E1A binding protein p300
EPCAM epithelial cell adhesion molecule
EPHB2 EPH receptor B2
ERCC5 excision repair cross-complementation group 5
ERRFI1 ERBB receptor feedback inhibitor 1
ESR2 estrogen receptor 2 (ER beta)
EZR ezrin
FADS2 fatty acid desaturase 2
FAT4 FAT atypical cadherin 4
FBXL5 F-box and leucine-rich repeat protein 5
FEN1 flap structure-specific endonuclease 1
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
FHIT fragile histidine triad
FLT4 fms-related tyrosine kinase 4
FOLR1 folate receptor 1 (adult)
FOXL1 forkhead box L1
FOXP3 forkhead box P3
FPR2 formyl peptide receptor 2
FREM1 FRAS1 related extracellular matrix 1
FUT7 fucosyltransferase 7 (alpha (1,3) fucosyltransferase)
GAST gastrin
GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type
GCNT4 glucosaminyl (N-acetyl) transferase 4, core 2
GDF11 growth differentiation factor 11
GDNF glial cell derived neurotrophic factor
GFRA1 GDNF family receptor alpha 1
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough
GLI3 GLI family zinc finger 3
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
GPC3 glypican 3
GPX1 glutathione peroxidase 1
GRHL3 grainyhead-like 3 (Drosophila)
GUCA2A guanylate cyclase activator 2A (guanylin)
GUCY1B3 guanylate cyclase 1, soluble, beta 3
HDAC2 histone deacetylase 2
HEPH hephaestin
HES1 hes family bHLH transcription factor 1
HLX H2.0-like homeobox
HOXA13 homeobox A13
HOXD13 homeobox D13
HPRT1 hypoxanthine phosphoribosyltransferase 1
HR hair growth associated
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
ICOS inducible T-cell co-stimulator
ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
IGHM immunoglobulin heavy constant mu
IHH indian hedgehog
IL10 interleukin 10
IL10RB interleukin 10 receptor, beta
IL13 interleukin 13
IL17RE interleukin 17 receptor E
IL2 interleukin 2
IL22 interleukin 22
IL25 interleukin 25
IL2RG interleukin 2 receptor, gamma
IL4 interleukin 4
IL4R interleukin 4 receptor
IL5 interleukin 5
IL6ST interleukin 6 signal transducer
IL9 interleukin 9
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
INVS inversin
IREB2 iron-responsive element binding protein 2
JAK3 Janus kinase 3
JMJD6 jumonji domain containing 6
KIF26A kinesin family member 26A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KL klotho
KLF4 Kruppel-like factor 4 (gut)
KLF5 Kruppel-like factor 5 (intestinal)
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT8 keratin 8, type II
LAMA5 laminin, alpha 5
LEFTY2 left-right determination factor 2
LEP leptin
LEPR leptin receptor
LIPA lipase A, lysosomal acid, cholesterol esterase
LOXL1 lysyl oxidase-like 1
LTB lymphotoxin beta (TNF superfamily, member 3)
LTBP4 latent transforming growth factor beta binding protein 4
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAN2C1 mannosidase, alpha, class 2C, member 1
MANBA mannosidase, beta A, lysosomal
MAP1LC3B microtubule-associated protein 1 light chain 3 beta
MAP3K14 mitogen-activated protein kinase kinase kinase 14
MAP3K8 mitogen-activated protein kinase kinase kinase 8
MARK2 MAP/microtubule affinity-regulating kinase 2
MCM2 minichromosome maintenance complex component 2
MERTK MER proto-oncogene, tyrosine kinase
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MMP7 matrix metallopeptidase 7
MMP9 matrix metallopeptidase 9
MNX1 motor neuron and pancreas homeobox 1
MSH2 mutS homolog 2
MUC2 mucin 2, oligomeric mucus/gel-forming
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYD88 myeloid differentiation primary response 88
MYO1A myosin IA
NCF1 neutrophil cytosolic factor 1
NEUROD1 neuronal differentiation 1
NFIL3 nuclear factor, interleukin 3 regulated
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
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
NOS1 nitric oxide synthase 1 (neuronal)
NR1H4 nuclear receptor subfamily 1, group H, member 4
NR5A2 nuclear receptor subfamily 5, group A, member 2
NRIP1 nuclear receptor interacting protein 1
NUAK2 NUAK family, SNF1-like kinase, 2
PAX7 paired box 7
PCSK5 proprotein convertase subtilisin/kexin type 5
PDGFA platelet-derived growth factor alpha polypeptide
PDGFC platelet derived growth factor C
PDX1 pancreatic and duodenal homeobox 1
PEX5 peroxisomal biogenesis factor 5
PGLYRP1 peptidoglycan recognition protein 1
PGLYRP2 peptidoglycan recognition protein 2
PGLYRP3 peptidoglycan recognition protein 3
PGLYRP4 peptidoglycan recognition protein 4
PIGR polymeric immunoglobulin receptor
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIP prolactin-induced protein
PITPNA phosphatidylinositol transfer protein, alpha
PITX2 paired-like homeodomain 2
PKDCC protein kinase domain containing, cytoplasmic
PLAGL2 pleiomorphic adenoma gene-like 2
PLAU plasminogen activator, urokinase
PLG plasminogen
PODXL podocalyxin-like
POLG polymerase (DNA directed), gamma
PPARD peroxisome proliferator-activated receptor delta
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PRKG1 protein kinase, cGMP-dependent, type I
PROX1 prospero homeobox 1
PTEN phosphatase and tensin homolog
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTK6 protein tyrosine kinase 6
PYCARD PYD and CARD domain containing
PYGO2 pygopus family PHD finger 2
RAB8A RAB8A, member RAS oncogene family
RAD23B RAD23 homolog B (S. cerevisiae)
RAG2 recombination activating gene 2
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RB1CC1 RB1-inducible coiled-coil 1
RC3H1 ring finger and CCCH-type domains 1
RDH10 retinol dehydrogenase 10 (all-trans)
RECQL4 RecQ protein-like 4
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RET ret proto-oncogene
RETNLB resistin like beta
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
SEC23B Sec23 homolog B (S. cerevisiae)
SESTD1 SEC14 and spectrin domains 1
SFN stratifin
SGOL1 shugoshin-like 1 (S. pombe)
SGPL1 sphingosine-1-phosphate lyase 1
SHH sonic hedgehog
SHROOM3 shroom family member 3
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC51A solute carrier family 51, alpha subunit
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SLC9A8 solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8
SLIT3 slit homolog 3 (Drosophila)
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMTN smoothelin
SNX27 sorting nexin family member 27
SOAT2 sterol O-acyltransferase 2
SOX10 SRY (sex determining region Y)-box 10
SPDEF SAM pointed domain containing ETS transcription factor
SPIB Spi-B transcription factor (Spi-1/PU.1 related)
SPINK1 serine peptidase inhibitor, Kazal type 1
SPRY2 sprouty homolog 2 (Drosophila)
STAT1 signal transducer and activator of transcription 1, 91kDa
STK11 serine/threonine kinase 11
STX2 syntaxin 2
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TDP2 tyrosyl-DNA phosphodiesterase 2
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TFF1 trefoil factor 1
TFF2 trefoil factor 2
TFF3 trefoil factor 3 (intestinal)
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
THRA thyroid hormone receptor, alpha
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TLX2 T-cell leukemia homeobox 2
TMPO thymopoietin
TNIP1 TNFAIP3 interacting protein 1
TNS2 tensin 2
TNS3 tensin 3
TOX thymocyte selection-associated high mobility group box
TP53 tumor protein p53
TP53INP1 tumor protein p53 inducible nuclear protein 1
TP63 tumor protein p63
TP73 tumor protein p73
TSTA3 tissue specific transplantation antigen P35B
TXNIP thioredoxin interacting protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VIPR1 vasoactive intestinal peptide receptor 1
WAS Wiskott-Aldrich syndrome
WASF1 WAS protein family, member 1
WDPCP WD repeat containing planar cell polarity effector
WNT3A wingless-type MMTV integration site family, member 3A
WNT5A wingless-type MMTV integration site family, member 5A
YIPF6 Yip1 domain family, member 6
ZIC2 Zic family member 2