functional abnormality of the gastrointestinal tract Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal functionality of the gastrointestinal tract. (Human Phenotype Ontology, HP_0012719)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012719
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Genes

183 genes associated with the functional abnormality of the gastrointestinal tract phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ACTG2 actin, gamma 2, smooth muscle, enteric
ACVRL1 activin A receptor type II-like 1
ADAM17 ADAM metallopeptidase domain 17
AGGF1 angiogenic factor with G patch and FHA domains 1
AICDA activation-induced cytidine deaminase
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDOB aldolase B, fructose-bisphosphate
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
APC adenomatous polyposis coli
APOA1 apolipoprotein A-I
ARHGAP31 Rho GTPase activating protein 31
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BMPR1A bone morphogenetic protein receptor, type IA
C12ORF65 chromosome 12 open reading frame 65
C4A complement component 4A (Rodgers blood group)
CBS cystathionine-beta-synthase
CFM1 cystic fibrosis modifier 1
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CIITA class II, major histocompatibility complex, transactivator
CISD2 CDGSH iron sulfur domain 2
COG4 component of oligomeric golgi complex 4
COG6 component of oligomeric golgi complex 6
COL3A1 collagen, type III, alpha 1
COMT catechol-O-methyltransferase
COX1
COX2
COX3
CTC1 CTS telomere maintenance complex component 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DHCR7 7-dehydrocholesterol reductase
DOCK6 dedicator of cytokinesis 6
ECE1 endothelin converting enzyme 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ENG endoglin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPCAM epithelial cell adhesion molecule
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
EWSR1 EWS RNA-binding protein 1
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F9 coagulation factor IX
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FBLN5 fibulin 5
FERMT1 fermitin family member 1
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGG fibrinogen gamma chain
FLNA filamin A, alpha
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FOXP3 forkhead box P3
GDF2 growth differentiation factor 2
GDNF glial cell derived neurotrophic factor
GFI1B growth factor independent 1B transcription repressor
GMPPA GDP-mannose pyrophosphorylase A
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
GREM1 gremlin 1, DAN family BMP antagonist
GTF2H5 general transcription factor IIH, polypeptide 5
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
GUCY2C guanylate cyclase 2C
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HMBS hydroxymethylbilane synthase
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPS1 Hermansky-Pudlak syndrome 1
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
IDS iduronate 2-sulfatase
IGHM immunoglobulin heavy constant mu
IL10 interleukin 10
IL10RA interleukin 10 receptor, alpha
IL10RB interleukin 10 receptor, beta
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL21 interleukin 21
IL23R interleukin 23 receptor
IRGM immunity-related GTPase family, M
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK2 Janus kinase 2
JAK3 Janus kinase 3
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLLN killin, p53-regulated DNA replication inhibitor
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
LBR lamin B receptor
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRP5 low density lipoprotein receptor-related protein 5
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LYST lysosomal trafficking regulator
MEFV Mediterranean fever
MEN1 multiple endocrine neoplasia I
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MLX MLX, MAX dimerization protein
MNX1 motor neuron and pancreas homeobox 1
MPL MPL proto-oncogene, thrombopoietin receptor
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-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MVK mevalonate kinase
MYD88 myeloid differentiation primary response 88
MYH9 myosin, heavy chain 9, non-muscle
NBN nibrin
ND1
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH1 notch 1
NOTCH3 notch 3
NRTN neurturin
OPLAH 5-oxoprolinase (ATP-hydrolysing)
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLG polymerase (DNA directed), gamma
PRKCSH protein kinase C substrate 80K-H
PRTN3 proteinase 3
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTRF polymerase I and transcript release factor
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RET ret proto-oncogene
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
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
SEC63 SEC63 homolog (S. cerevisiae)
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMAD4 SMAD family member 4
SNAP29 synaptosomal-associated protein, 29kDa
SOX10 SRY (sex determining region Y)-box 10
STAT4 signal transducer and activator of transcription 4
STK11 serine/threonine kinase 11
TBCE tubulin folding cofactor E
TBX1 T-box 1
TEK TEK tyrosine kinase, endothelial
TET2 tet methylcytosine dioxygenase 2
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TLR4 toll-like receptor 4
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNXB tenascin XB
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TYMP thymidine phosphorylase
UFD1L ubiquitin fusion degradation 1 like (yeast)
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WFS1 Wolfram syndrome 1 (wolframin)
WIPF1 WAS/WASL interacting protein family, member 1
WT1 Wilms tumor 1