abnormality of the large intestine Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the large intestine. (Human Phenotype Ontology, HP_0002250)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002250
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Genes

117 genes associated with the abnormality of the large 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
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ACTG2 actin, gamma 2, smooth muscle, enteric
AKT1 v-akt murine thymoma viral oncogene homolog 1
APC adenomatous polyposis coli
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
AXIN2 axin 2
BAX BCL2-associated X protein
BCR breakpoint cluster region
BMPR1A bone morphogenetic protein receptor, type IA
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
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHEK2 checkpoint kinase 2
CIITA class II, major histocompatibility complex, transactivator
COG6 component of oligomeric golgi complex 6
COL14A1 collagen, type XIV, alpha 1
COMT catechol-O-methyltransferase
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DCC DCC netrin 1 receptor
DDHD2 DDHD domain containing 2
DNASE1L3 deoxyribonuclease I-like 3
EP300 E1A binding protein p300
EPCAM epithelial cell adhesion molecule
FERMT1 fermitin family member 1
FGFR3 fibroblast growth factor receptor 3
FLCN folliculin
FMR1 fragile X mental retardation 1
FREM1 FRAS1 related extracellular matrix 1
FUZ fuzzy planar cell polarity protein
GATA6 GATA binding protein 6
GLA galactosidase, alpha
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
GREM1 gremlin 1, DAN family BMP antagonist
GUCY2C guanylate cyclase 2C
HIRA histone cell cycle regulator
HPS1 Hermansky-Pudlak syndrome 1
HPSE2 heparanase 2 (inactive)
IGHM immunoglobulin heavy constant mu
IL10RA interleukin 10 receptor, alpha
IL10RB interleukin 10 receptor, beta
IL21 interleukin 21
IRGM immunity-related GTPase family, M
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
KIF7 kinesin family member 7
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LTBP4 latent transforming growth factor beta binding protein 4
MAPK1 mitogen-activated protein kinase 1
MCC mutated in colorectal cancers
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MKKS McKusick-Kaufman syndrome
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MNX1 motor neuron and pancreas homeobox 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MUTYH mutY homolog
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NIPBL Nipped-B homolog (Drosophila)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OPLAH 5-oxoprolinase (ATP-hydrolysing)
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRL platelet-derived growth factor receptor-like
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLP1 proteolipid protein 1
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PTEN phosphatase and tensin homolog
PTPN12 protein tyrosine phosphatase, non-receptor type 12
PTPRJ protein tyrosine phosphatase, receptor type, J
RAD54B RAD54 homolog B (S. cerevisiae)
RECQL4 RecQ protein-like 4
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
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
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
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMAD4 SMAD family member 4
SOX10 SRY (sex determining region Y)-box 10
STK11 serine/threonine kinase 11
TBX1 T-box 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TP53 tumor protein p53
TP63 tumor protein p63
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
VANGL1 VANGL planar cell polarity protein 1
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
ZFYVE26 zinc finger, FYVE domain containing 26
ZNF592 zinc finger protein 592