abnormality of the small intestine Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the small intestine. (Human Phenotype Ontology, HP_0002244)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002244
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Genes

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

Symbol Name
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ACTG2 actin, gamma 2, smooth muscle, enteric
ADAM17 ADAM metallopeptidase domain 17
AKR1D1 aldo-keto reductase family 1, member D1
ALG3 ALG3, alpha-1,3- mannosyltransferase
AMACR alpha-methylacyl-CoA racemase
APOB apolipoprotein B
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
BAAT bile acid CoA:amino acid N-acyltransferase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CCBE1 collagen and calcium binding EGF domains 1
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CIITA class II, major histocompatibility complex, transactivator
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DGAT1 diacylglycerol O-acyltransferase 1
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
EPCAM epithelial cell adhesion molecule
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC4 excision repair cross-complementation group 4
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
FBN2 fibrillin 2
FGFR1 fibroblast growth factor receptor 1
FOXF1 forkhead box F1
FOXP3 forkhead box P3
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GATA1 GATA binding protein 1 (globin transcription factor 1)
GPC3 glypican 3
GRIP1 glutamate receptor interacting protein 1
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
LBR lamin B receptor
LIPA lipase A, lysosomal acid, cholesterol esterase
MPI mannose phosphate isomerase
MTTP microsomal triglyceride transfer protein
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYO5B myosin VB
PALB2 partner and localizer of BRCA2
PCSK1 proprotein convertase subtilisin/kexin type 1
PEX12 peroxisomal biogenesis factor 12
PLG plasminogen
PNLIP pancreatic lipase
PORCN porcupine homolog (Drosophila)
PRSS1 protease, serine, 1 (trypsin 1)
RAD51C RAD51 paralog C
RARB retinoic acid receptor, beta
RBM8A RNA binding motif protein 8A
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
SALL1 spalt-like transcription factor 1
SAR1B secretion associated, Ras related GTPase 1B
SBDS Shwachman-Bodian-Diamond syndrome
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SHH sonic hedgehog
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
SLX4 SLX4 structure-specific endonuclease subunit
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)
STRA6 stimulated by retinoic acid 6
TJP2 tight junction protein 2
TTC37 tetratricopeptide repeat domain 37
TTC7A tetratricopeptide repeat domain 7A