megacolon Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A colonic disease that is characterized by an abnormal dilation of the colon. (Human Disease Ontology, DOID_11372)
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Genes

212 genes co-occuring with the disease megacolon in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
RET ret proto-oncogene 2.87896
EDNRB endothelin receptor type B 2.79417
EDN3 endothelin 3 2.53473
SOX10 SRY (sex determining region Y)-box 10 2.43668
GDNF glial cell derived neurotrophic factor 2.31793
ACHE acetylcholinesterase (Yt blood group) 2.15561
ZEB2 zinc finger E-box binding homeobox 2 1.85729
PHOX2B paired-like homeobox 2b 1.7555
NRTN neurturin 1.57913
GFRA1 GDNF family receptor alpha 1 1.53701
CALB2 calbindin 2 1.35681
PSPN persephin 1.34897
VIP vasoactive intestinal peptide 1.32891
L1CAM L1 cell adhesion molecule 1.32803
TAC1 tachykinin, precursor 1 1.30488
ECE1 endothelin converting enzyme 1 1.27039
RASGEF1A RasGEF domain family, member 1A 1.22042
HOXB5 homeobox B5 1.20526
PHACTR4 phosphatase and actin regulator 4 1.15965
ARTN artemin 1.15027
KIF26A kinesin family member 26A 1.14093
PAX3 paired box 3 1.10889
PECR peroxisomal trans-2-enoyl-CoA reductase 1.08454
NRSN1 neurensin 1 1.08244
GTDC1 glycosyltransferase-like domain containing 1 1.07194
GFRA2 GDNF family receptor alpha 2 1.06144
ELAVL3 ELAV like neuron-specific RNA binding protein 3 1.03872
SEMA3D sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 1.03788
ENO2 enolase 2 (gamma, neuronal) 1.01976
KIF1BP KIF1 binding protein 0.991487
MITF microphthalmia-associated transcription factor 0.983057
SYP synaptophysin 0.980531
NRG1 neuregulin 1 0.964567
NPS neuropeptide S 0.954525
MNX1 motor neuron and pancreas homeobox 1 0.89541
PIGV phosphatidylinositol glycan anchor biosynthesis, class V 0.894589
CALCA calcitonin-related polypeptide alpha 0.887208
RBPMS2 RNA binding protein with multiple splicing 2 0.879014
HOXA4 homeobox A4 0.86714
PROKR1 prokineticin receptor 1 0.833968
NPY neuropeptide Y 0.824128
GAL galanin/GMAP prepropeptide 0.819206
AEBP2 AE binding protein 2 0.790081
BCHE butyrylcholinesterase 0.783526
SOCS7 suppressor of cytokine signaling 7 0.776568
APOLD1 apolipoprotein L domain containing 1 0.77575
GFRA4 GDNF family receptor alpha 4 0.750864
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) 0.749644
CSGALNACT2 chondroitin sulfate N-acetylgalactosaminyltransferase 2 0.738676
SI sucrase-isomaltase (alpha-glucosidase) 0.738676
DPF3 D4, zinc and double PHD fingers, family 3 0.729357
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 0.720461
MBTPS2 membrane-bound transcription factor peptidase, site 2 0.718443
PDS5A PDS5 cohesin associated factor A 0.701928
TIAF1 TGFB1-induced anti-apoptotic factor 1 0.69751
TLX3 T-cell leukemia homeobox 3 0.693098
NTN3 netrin 3 0.676308
NTF3 neurotrophin 3 0.670732
SRY sex determining region Y 0.666358
PIGO phosphatidylinositol glycan anchor biosynthesis, class O 0.664372
PRAMEF20 PRAME family member 20 0.641433
B3GAT1 beta-1,3-glucuronyltransferase 1 0.637102
GFRA3 GDNF family receptor alpha 3 0.627672
PGAP2 post-GPI attachment to proteins 2 0.621008
SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 0.613183
ARHGAP15 Rho GTPase activating protein 15 0.610057
NGFR nerve growth factor receptor 0.60186
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial 0.60186
SNAI2 snail family zinc finger 2 0.596792
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.596402
INTS5 integrator complex subunit 5 0.594843
NRG3 neuregulin 3 0.585887
TH tyrosine hydroxylase 0.585108
HOXA13 homeobox A13 0.572662
NCAM1 neural cell adhesion molecule 1 0.558674
KPTN kaptin (actin binding protein) 0.55518
EDNRA endothelin receptor type A 0.542767
SAE1 SUMO1 activating enzyme subunit 1 0.533475
CHAT choline O-acetyltransferase 0.524588
MYO18A myosin XVIIIA 0.521502
PDS5B PDS5 cohesin associated factor B 0.518805
FABP7 fatty acid binding protein 7, brain 0.511112
GRB2 growth factor receptor-bound protein 2 0.506123
AMER1 APC membrane recruitment protein 1 0.499997
ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 0.498849
EGR2 early growth response 2 0.496175
NTRK3 neurotrophic tyrosine kinase, receptor, type 3 0.486646
HMOX2 heme oxygenase 2 0.483985
MYL6 myosin, light chain 6, alkali, smooth muscle and non-muscle 0.475634
SST somatostatin 0.469197
TCOF1 Treacher Collins-Franceschetti syndrome 1 0.46466
ASCL1 achaete-scute family bHLH transcription factor 1 0.462394
NOG noggin 0.451078
BMP4 bone morphogenetic protein 4 0.449947
KCNN3 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3 0.446558
CTNNAL1 catenin (cadherin-associated protein), alpha-like 1 0.4443
MYO5A myosin VA (heavy chain 12, myoxin) 0.434524
WNT8A wingless-type MMTV integration site family, member 8A 0.431519
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 0.427765
IQGAP2 IQ motif containing GTPase activating protein 2 0.42664
FRS2 fibroblast growth factor receptor substrate 2 0.424765
SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20 0.418394
NPAS4 neuronal PAS domain protein 4 0.413527
WNT8B wingless-type MMTV integration site family, member 8B 0.411657
NEFH neurofilament, heavy polypeptide 0.410161
NLGN2 neuroligin 2 0.407919
NKX2-1 NK2 homeobox 1 0.407545
SHH sonic hedgehog 0.389653
KITLG KIT ligand 0.383708
SOX8 SRY (sex determining region Y)-box 8 0.377402
SNRNP70 small nuclear ribonucleoprotein 70kDa (U1) 0.37555
FOXF2 forkhead box F2 0.36704
ELSPBP1 epididymal sperm binding protein 1 0.362609
GRK4 G protein-coupled receptor kinase 4 0.360026
C11ORF40 chromosome 11 open reading frame 40 0.351555
PDLIM5 PDZ and LIM domain 5 0.351555
CHD3 chromodomain helicase DNA binding protein 3 0.348981
SLC8A2 solute carrier family 8 (sodium/calcium exchanger), member 2 0.346777
OVGP1 oviductal glycoprotein 1, 120kDa 0.344207
DTNA dystrobrevin, alpha 0.342739
BMP10 bone morphogenetic protein 10 0.336144
AKAP5 A kinase (PRKA) anchor protein 5 0.333583
GRP gastrin-releasing peptide 0.333218
JAG2 jagged 2 0.323365
GLRA1 glycine receptor, alpha 1 0.319726
TAS2R38 taste receptor, type 2, member 38 0.313552
NEFM neurofilament, medium polypeptide 0.312464
MYLIP myosin regulatory light chain interacting protein 0.311739
MLN motilin 0.307033
OCA2 oculocutaneous albinism II 0.297291
CTSD cathepsin D 0.296931
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide 0.296211
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide 0.295851
ALB albumin 0.293334
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 0.292975
HOXB3 homeobox B3 0.29118
PYY peptide YY 0.29118
TYR tyrosinase 0.287952
TFAP2C transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 0.28616
AKR1D1 aldo-keto reductase family 1, member D1 0.283297
NTS neurotensin 0.279367
MECP2 methyl CpG binding protein 2 0.277584
LAMA5 laminin, alpha 5 0.275801
RAB38 RAB38, member RAS oncogene family 0.275801
BMPR1A bone morphogenetic protein receptor, type IA 0.272597
NTRK1 neurotrophic tyrosine kinase, receptor, type 1 0.269753
NES nestin 0.269398
SYN1 synapsin I 0.263014
KYNU kynureninase 0.261952
PTCH1 patched 1 0.261599
DHRS2 dehydrogenase/reductase (SDR family) member 2 0.261599
DSCAM Down syndrome cell adhesion molecule 0.260538
BBS12 Bardet-Biedl syndrome 12 0.253479
TMC1 transmembrane channel-like 1 0.248203
ECE2 endothelin converting enzyme 2 0.248203
NLGN1 neuroligin 1 0.247852
SH2B1 SH2B adaptor protein 1 0.242595
STMN2 stathmin 2 0.239101
PEX14 peroxisomal biogenesis factor 14 0.239101
CNTN6 contactin 6 0.237706
MYOF myoferlin 0.237706
CNTFR ciliary neurotrophic factor receptor 0.22937
FLOT2 flotillin 2 0.227642
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 0.224884
DVL3 dishevelled segment polarity protein 3 0.221108
SMURF1 SMAD specific E3 ubiquitin protein ligase 1 0.220766
IHH indian hedgehog 0.220424
BMP5 bone morphogenetic protein 5 0.218034
CALB1 calbindin 1, 28kDa 0.217352
PROK1 prokineticin 1 0.215992
CHGA chromogranin A 0.214636
TLX1 T-cell leukemia homeobox 1 0.213959
PFAS phosphoribosylformylglycinamidine synthase 0.213621
ALDH1A2 aldehyde dehydrogenase 1 family, member A2 0.211261
PHOX2A paired-like homeobox 2a 0.20658
HOXD9 homeobox D9 0.201308
SRC SRC proto-oncogene, non-receptor tyrosine kinase 0.196779
MAPK10 mitogen-activated protein kinase 10 0.196459
HSF4 heat shock transcription factor 4 0.195183
HAND2 heart and neural crest derivatives expressed 2 0.189551
VGF VGF nerve growth factor inducible 0.187719
NPAT nuclear protein, ataxia-telangiectasia locus 0.18651
ACP2 acid phosphatase 2, lysosomal 0.18591
PLEK pleckstrin 0.18151
FOXF1 forkhead box F1 0.17896
GAP43 growth associated protein 43 0.178682
NCOA3 nuclear receptor coactivator 3 0.177301
WNT3A wingless-type MMTV integration site family, member 3A 0.173832
PARD6A par-6 family cell polarity regulator alpha 0.172544
NEU2 sialidase 2 (cytosolic sialidase) 0.171286
CCK cholecystokinin 0.170299
SIM2 single-minded family bHLH transcription factor 2 0.170054
BBS2 Bardet-Biedl syndrome 2 0.168381
CCNB2 cyclin B2 0.163938
SMTN smoothelin 0.163317
GRB10 growth factor receptor-bound protein 10 0.162908
ANGPTL3 angiopoietin-like 3 0.160948
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) 0.157765
BMP2 bone morphogenetic protein 2 0.157602
LCA10 lung carcinoma-associated 10 0.15574
SH3BP5 SH3-domain binding protein 5 (BTK-associated) 0.147949
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 0.144902
CRP C-reactive protein, pentraxin-related 0.141905
NOS2 nitric oxide synthase 2, inducible 0.141635
GUSB glucuronidase, beta 0.139753
IL1RN interleukin 1 receptor antagonist 0.136275
IL1B interleukin 1, beta 0.136187
HDAC8 histone deacetylase 8 0.13549
RAET1E retinoic acid early transcript 1E 0.135139
COL4A6 collagen, type IV, alpha 6 0.134623
MUC2 mucin 2, oligomeric mucus/gel-forming 0.134538
HDAC2 histone deacetylase 2 0.134495