abnormality of the intestine Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. (Human Phenotype Ontology, HP_0002242)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002242
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Genes

468 genes associated with the abnormality of the intestine phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAGAB alpha- and gamma-adaptin binding protein
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTG2 actin, gamma 2, smooth muscle, enteric
ACVRL1 activin A receptor type II-like 1
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
AGA aspartylglucosaminidase
AHI1 Abelson helper integration site 1
AIRE autoimmune regulator
AK2 adenylate kinase 2
AKR1D1 aldo-keto reductase family 1, member D1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALG3 ALG3, alpha-1,3- mannosyltransferase
AMACR alpha-methylacyl-CoA racemase
AMER1 APC membrane recruitment protein 1
ANTXR2 anthrax toxin receptor 2
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
APC adenomatous polyposis coli
APOB apolipoprotein B
ARL13B ADP-ribosylation factor-like 13B
ARL6 ADP-ribosylation factor-like 6
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASCL1 achaete-scute family bHLH transcription factor 1
ASXL1 additional sex combs like transcriptional regulator 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
AVP arginine vasopressin
AXIN2 axin 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B9D1 B9 protein domain 1
BAAT bile acid CoA:amino acid N-acyltransferase
BAX BCL2-associated X protein
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCOR BCL6 corepressor
BCR breakpoint cluster region
BDNF brain-derived neurotrophic factor
BLNK B-cell linker
BMPR1A bone morphogenetic protein receptor, type IA
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTK Bruton agammaglobulinemia tyrosine kinase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C12ORF65 chromosome 12 open reading frame 65
C4A complement component 4A (Rodgers blood group)
C5ORF42 chromosome 5 open reading frame 42
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CCR6 chemokine (C-C motif) receptor 6
CD19 CD19 molecule
CD3G CD3g molecule, gamma (CD3-TCR complex)
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD81 CD81 molecule
CDK4 cyclin-dependent kinase 4
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CFM1 cystic fibrosis modifier 1
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CHEK2 checkpoint kinase 2
CHRM3 cholinergic receptor, muscarinic 3
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CIITA class II, major histocompatibility complex, transactivator
CISD2 CDGSH iron sulfur domain 2
CLIP2 CAP-GLY domain containing linker protein 2
CLMP CXADR-like membrane protein
COG6 component of oligomeric golgi complex 6
COL14A1 collagen, type XIV, alpha 1
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COMT catechol-O-methyltransferase
COX1
COX2
COX3
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
CR2 complement component (3d/Epstein Barr virus) receptor 2
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CSPP1 centrosome and spindle pole associated protein 1
CTC1 CTS telomere maintenance complex component 1
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNS cystinosin, lysosomal cystine transporter
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DCC DCC netrin 1 receptor
DCLRE1C DNA cross-link repair 1C
DCTN4 dynactin 4 (p62)
DDHD2 DDHD domain containing 2
DDIT3 DNA-damage-inducible transcript 3
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DGAT1 diacylglycerol O-acyltransferase 1
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DKC1 dyskeratosis congenita 1, dyskerin
DNASE1L3 deoxyribonuclease I-like 3
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
ECE1 endothelin converting enzyme 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
ENG endoglin
EP300 E1A binding protein p300
EPCAM epithelial cell adhesion molecule
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
EWSR1 EWS RNA-binding protein 1
EYA1 EYA transcriptional coactivator and phosphatase 1
F12 coagulation factor XII (Hageman factor)
F5 coagulation factor V (proaccelerin, labile factor)
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAT4 FAT atypical cadherin 4
FBLN5 fibulin 5
FBN2 fibrillin 2
FERMT1 fermitin family member 1
FGF20 fibroblast growth factor 20
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLCN folliculin
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
FOXF1 forkhead box F1
FOXP3 forkhead box P3
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FUS FUS RNA binding protein
FUZ fuzzy planar cell polarity protein
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA6 GATA binding protein 6
GDF2 growth differentiation factor 2
GDNF glial cell derived neurotrophic factor
GIF gastric intrinsic factor (vitamin B synthesis)
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GLA galactosidase, alpha
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
GREM1 gremlin 1, DAN family BMP antagonist
GRIP1 glutamate receptor interacting protein 1
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCY2C guanylate cyclase 2C
HBB hemoglobin, beta
HDAC8 histone deacetylase 8
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMBS hydroxymethylbilane synthase
HMGA2 high mobility group AT-hook 2
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPS1 Hermansky-Pudlak syndrome 1
HPSE2 heparanase 2 (inactive)
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
ICOS inducible T-cell co-stimulator
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT27 intraflagellar transport 27
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IL10 interleukin 10
IL10RA interleukin 10 receptor, alpha
IL10RB interleukin 10 receptor, beta
IL12RB2 interleukin 12 receptor, beta 2
IL21 interleukin 21
IL23R interleukin 23 receptor
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IRF5 interferon regulatory factor 5
IRGM immunity-related GTPase family, M
ITGA6 integrin, alpha 6
ITGA8 integrin, alpha 8
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB4 integrin, beta 4
JAK2 Janus kinase 2
JAK3 Janus kinase 3
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KIAA0196 KIAA0196
KIF1BP KIF1 binding protein
KIF7 kinesin family member 7
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLLN killin, p53-regulated DNA replication inhibitor
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
LBR lamin B receptor
LCT lactase
LEMD3 LEM domain containing 3
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPA lipase A, lysosomal acid, cholesterol esterase
LPIN2 lipin 2
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
LRP2 low density lipoprotein receptor-related protein 2
LRRC8A leucine rich repeat containing 8 family, member A
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LTBP4 latent transforming growth factor beta binding protein 4
LZTFL1 leucine zipper transcription factor-like 1
MAPK1 mitogen-activated protein kinase 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCC mutated in colorectal cancers
MCM6 minichromosome maintenance complex component 6
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MED12 mediator complex subunit 12
MEFV Mediterranean fever
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MNX1 motor neuron and pancreas homeobox 1
MPI mannose phosphate isomerase
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TK tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTTP microsomal triglyceride transfer protein
MUTYH mutY homolog
MVK mevalonate kinase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYD88 myeloid differentiation primary response 88
MYO5B myosin VB
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NBN nibrin
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
ND1
NEK1 NIMA-related kinase 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NHP2 NHP2 ribonucleoprotein
NIPBL Nipped-B homolog (Drosophila)
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NOTCH2 notch 2
NOTCH3 notch 3
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRTN neurturin
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OPLAH 5-oxoprolinase (ATP-hydrolysing)
PALB2 partner and localizer of BRCA2
PAX3 paired box 3
PCSK1 proprotein convertase subtilisin/kexin type 1
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDGFRL platelet-derived growth factor receptor-like
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PHOX2B paired-like homeobox 2b
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKP1 plakophilin 1
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLG plasminogen
PLP1 proteolipid protein 1
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNLIP pancreatic lipase
POLG polymerase (DNA directed), gamma
PORCN porcupine homolog (Drosophila)
PRDM16 PR domain containing 16
PRKCD protein kinase C, delta
PRSS1 protease, serine, 1 (trypsin 1)
PRTN3 proteinase 3
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTPN12 protein tyrosine phosphatase, non-receptor type 12
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRJ protein tyrosine phosphatase, receptor type, J
PTRF polymerase I and transcript release factor
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAD54B RAD54 homolog B (S. cerevisiae)
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFX6 regulatory factor X, 6
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RPGRIP1L RPGRIP1-like
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RTEL1 regulator of telomere elongation helicase 1
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SAR1B secretion associated, Ras related GTPase 1B
SBDS Shwachman-Bodian-Diamond syndrome
SCN4A sodium channel, voltage gated, type IV alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHH sonic hedgehog
SI sucrase-isomaltase (alpha-glucosidase)
SKI SKI proto-oncogene
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC30A2 solute carrier family 30 (zinc transporter), member 2
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNAI2 snail family zinc finger 2
SOX10 SRY (sex determining region Y)-box 10
SPINK1 serine peptidase inhibitor, Kazal type 1
SPINK5 serine peptidase inhibitor, Kazal type 5
SRCAP Snf2-related CREBBP activator protein
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
STK11 serine/threonine kinase 11
STRA6 stimulated by retinoic acid 6
STX1A syntaxin 1A (brain)
STX3 syntaxin 3
SUFU suppressor of fused homolog (Drosophila)
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TCF3 transcription factor 3
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TEK TEK tyrosine kinase, endothelial
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB1 transforming growth factor, beta 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TJP2 tight junction protein 2
TLR4 toll-like receptor 4
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNXB tenascin XB
TP53 tumor protein p53
TP63 tumor protein p63
TRIM32 tripartite motif containing 32
TRNE
TTC37 tetratricopeptide repeat domain 37
TTC7A tetratricopeptide repeat domain 7A
TTC8 tetratricopeptide repeat domain 8
TYMP thymidine phosphorylase
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
USB1 U6 snRNA biogenesis 1
VANGL1 VANGL planar cell polarity protein 1
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WAS Wiskott-Aldrich syndrome
WDPCP WD repeat containing planar cell polarity effector
WFS1 Wolfram syndrome 1 (wolframin)
WIPF1 WAS/WASL interacting protein family, member 1
WRAP53 WD repeat containing, antisense to TP53
WT1 Wilms tumor 1
ZBTB24 zinc finger and BTB domain containing 24
ZEB2 zinc finger E-box binding homeobox 2
ZFYVE26 zinc finger, FYVE domain containing 26
ZNF423 zinc finger protein 423
ZNF592 zinc finger protein 592