congenital diaphragmatic hernia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. (Human Disease Ontology, DOID_3827)
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Genes

235 genes co-occuring with the disease congenital diaphragmatic hernia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
ZFPM2 zinc finger protein, FOG family member 2 1.82685
STRA6 stimulated by retinoic acid 6 1.59296
NR2F2 nuclear receptor subfamily 2, group F, member 2 1.57467
PAX3 paired box 3 1.45001
GATA4 GATA binding protein 4 1.44825
TEF thyrotrophic embryonic factor 1.40833
ALDH1A2 aldehyde dehydrogenase 1 family, member A2 1.34548
DEFB135 defensin, beta 135 1.30707
HLX H2.0-like homeobox 1.2813
LRTM1 leucine-rich repeats and transmembrane domains 1 1.27868
EFNB1 ephrin-B1 1.22475
FGF10 fibroblast growth factor 10 1.22475
YIPF6 Yip1 domain family, member 6 1.22302
DISP1 dispatched homolog 1 (Drosophila) 1.18281
SFTPB surfactant protein B 1.17335
DEFB134 defensin, beta 134 1.16649
FGF18 fibroblast growth factor 18 1.15666
SFTPC surfactant protein C 1.15198
ZNHIT3 zinc finger, HIT-type containing 3 1.1507
TMX3 thioredoxin-related transmembrane protein 3 1.1367
FBXO28 F-box protein 28 1.1312
CCDC102B coiled-coil domain containing 102B 1.12741
TCTE3 t-complex-associated-testis-expressed 3 1.1194
HOMER2 homer scaffolding protein 2 1.11351
HEPHL1 hephaestin-like 1 1.10973
TADA2A transcriptional adaptor 2A 1.09923
SLIT3 slit homolog 3 (Drosophila) 1.09335
NR2F1 nuclear receptor subfamily 2, group F, member 1 1.08957
PIGW phosphatidylinositol glycan anchor biosynthesis, class W 1.08579
FGFRL1 fibroblast growth factor receptor-like 1 1.07824
HDGFRP3 hepatoma-derived growth factor, related protein 3 1.07404
NKX2-1 NK2 homeobox 1 1.07152
DDX52 DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 1.06774
AP3B2 adaptor-related protein complex 3, beta 2 subunit 1.05723
ARRDC4 arrestin domain containing 4 1.04462
CDH18 cadherin 18, type 2 0.991909
FREM1 FRAS1 related extracellular matrix 1 0.990222
NEIL2 nei endonuclease VIII-like 2 (E. coli) 0.9717
DSEL dermatan sulfate epimerase-like 0.952021
ELN elastin 0.94369
GATA6 GATA binding protein 6 0.933727
PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1 0.922561
HOXB5 homeobox B5 0.908142
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 0.905265
SF3B4 splicing factor 3b, subunit 4, 49kDa 0.885979
HCCS holocytochrome c synthase 0.850764
PJA1 praja ring finger 1, E3 ubiquitin protein ligase 0.850354
SYNRG synergin, gamma 0.847898
BCAS2 breast carcinoma amplified sequence 2 0.829869
GGNBP2 gametogenetin binding protein 2 0.814283
NOS3 nitric oxide synthase 3 (endothelial cell) 0.808129
DUSP14 dual specificity phosphatase 14 0.795002
FGF7 fibroblast growth factor 7 0.794181
MYH4 myosin, heavy chain 4, skeletal muscle 0.791311
CPLX3 complexin 3 0.790081
EDNRA endothelin receptor type A 0.788852
WNT7B wingless-type MMTV integration site family, member 7B 0.785574
ACTB actin, beta 0.785574
CDH12 cadherin 12, type 2 (N-cadherin 2) 0.783936
SHH sonic hedgehog 0.775341
ACTG1 actin gamma 1 0.752898
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2 0.741517
PROS2P protein S (beta) pseudogene 0.728952
AQP5 aquaporin 5 0.724502
PDE5A phosphodiesterase 5A, cGMP-specific 0.724502
LRP2 low density lipoprotein receptor-related protein 2 0.716425
CDH19 cadherin 19, type 2 0.710378
IGLV6-57 immunoglobulin lambda variable 6-57 0.705949
STARD8 StAR-related lipid transfer (START) domain containing 8 0.699116
SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin) 0.698313
CDH8 cadherin 8, type 2 0.687091
SMOX spermine oxidase 0.683493
ARID3B AT rich interactive domain 3B (BRIGHT-like) 0.67312
WT1 Wilms tumor 1 0.656837
HOXA3 homeobox A3 0.656046
KIF7 kinesin family member 7 0.652089
GPC6 glypican 6 0.641827
FBLN5 fibulin 5 0.63907
SCNN1B sodium channel, non voltage gated 1 beta subunit 0.629242
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 0.628065
PLAA phospholipase A2-activating protein 0.613183
ST7 suppression of tumorigenicity 7 0.61162
IRX1 iroquois homeobox 1 0.609276
SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila) 0.608885
FGF9 fibroblast growth factor 9 0.60342
HOXC4 homeobox C4 0.60342
PAOX polyamine oxidase (exo-N4-amino) 0.59913
NIPBL Nipped-B homolog (Drosophila) 0.588612
MYL2 myosin, light chain 2, regulatory, cardiac, slow 0.585497
LHX1 LIM homeobox 1 0.582773
APLN apelin 0.582384
ATN1 atrophin 1 0.582384
SCNN1A sodium channel, non voltage gated 1 alpha subunit 0.57655
FGF1 fibroblast growth factor 1 (acidic) 0.576161
RASGRP3 RAS guanyl releasing protein 3 (calcium and DAG-regulated) 0.575772
WNT2 wingless-type MMTV integration site family member 2 0.569163
BMP4 bone morphogenetic protein 4 0.569163
HOXD3 homeobox D3 0.566831
FOXF2 forkhead box F2 0.55945
EDN1 endothelin 1 0.541605
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35) 0.538506
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 0.535796
IRX3 iroquois homeobox 3 0.535409
TIMP1 TIMP metallopeptidase inhibitor 1 0.527676
LTBP4 latent transforming growth factor beta binding protein 4 0.524588
PGRMC1 progesterone receptor membrane component 1 0.523816
GCAT glycine C-acetyltransferase 0.514571
FLT1 fms-related tyrosine kinase 1 0.514186
HOXB3 homeobox B3 0.513417
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1 0.512648
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.495793
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 0.493122
GSK3B glycogen synthase kinase 3 beta 0.490835
FGF6 fibroblast growth factor 6 0.489311
GPR162 G protein-coupled receptor 162 0.48893
FOXA2 forkhead box A2 0.478289
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila) 0.471468
RXRA retinoid X receptor, alpha 0.471089
RPS17 ribosomal protein S17 0.471089
PPT1 palmitoyl-protein thioesterase 1 0.463905
SEMA7A semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 0.461261
GRP gastrin-releasing peptide 0.458996
PORCN porcupine homolog (Drosophila) 0.458241
SIN3A SIN3 transcription regulator family member A 0.457487
GJA1 gap junction protein, alpha 1, 43kDa 0.45447
GPC5 glypican 5 0.452962
IGLV9-49 immunoglobulin lambda variable 9-49 0.448064
LBR lamin B receptor 0.445429
CDH6 cadherin 6, type 2, K-cadherin (fetal kidney) 0.443171
TRH thyrotropin-releasing hormone 0.432646
RARS arginyl-tRNA synthetase 0.428891
ALDH1A3 aldehyde dehydrogenase 1 family, member A3 0.42664
FZD2 frizzled class receptor 2 0.419142
FGFR2 fibroblast growth factor receptor 2 0.418768
OPHN1 oligophrenin 1 0.412031
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2 0.409787
RARG retinoic acid receptor, gamma 0.404931
OR10K2 olfactory receptor, family 10, subfamily K, member 2 0.402692
PTER phosphotriesterase related 0.398962
TGFB1 transforming growth factor, beta 1 0.398589
AFP alpha-fetoprotein 0.397843
LAX1 lymphocyte transmembrane adaptor 1 0.397843
RARB retinoic acid receptor, beta 0.393001
COL9A1 collagen, type IX, alpha 1 0.391885
PIGN phosphatidylinositol glycan anchor biosynthesis, class N 0.390397
MEF2A myocyte enhancer factor 2A 0.389653
AATF apoptosis antagonizing transcription factor 0.378143
RAET1E retinoic acid early transcript 1E 0.37555
RBP2 retinol binding protein 2, cellular 0.37555
SUMO2 small ubiquitin-like modifier 2 0.374438
COL4A2 collagen, type IV, alpha 2 0.365193
CPEB1 cytoplasmic polyadenylation element binding protein 1 0.364454
SPRED1 sprouty-related, EVH1 domain containing 1 0.359289
PRKCZ protein kinase C, zeta 0.356341
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow 0.351923
SCO2 SCO2 cytochrome c oxidase assembly protein 0.349349
TMEFF2 transmembrane protein with EGF-like and two follistatin-like domains 2 0.343106
TINF2 TERF1 (TRF1)-interacting nuclear factor 2 0.342739
RGS5 regulator of G-protein signaling 5 0.342006
PER1 period circadian clock 1 0.340906
DFFB DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) 0.339806
VEGFA vascular endothelial growth factor A 0.336876
DBN1 drebrin 1 0.332121
IGF1 insulin-like growth factor 1 (somatomedin C) 0.3292
PPCS phosphopantothenoylcysteine synthetase 0.328834
CFAP74 cilia and flagella associated protein 74 0.32373
ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 0.322273
ACACA acetyl-CoA carboxylase alpha 0.307757
SLC22A18 solute carrier family 22, member 18 0.30631
HOXA5 homeobox A5 0.304864
ZIC2 Zic family member 2 0.304503
FOXD3 forkhead box D3 0.297291
CRABP1 cellular retinoic acid binding protein 1 0.296211
MMP2 matrix metallopeptidase 2 0.293694
GREM1 gremlin 1, DAN family BMP antagonist 0.292616
EYA1 EYA transcriptional coactivator and phosphatase 1 0.287593
ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 0.283655
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 0.279724
CLCN3 chloride channel, voltage-sensitive 3 0.279724
COL2A1 collagen, type II, alpha 1 0.277227
CALCA calcitonin-related polypeptide alpha 0.276514
ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide 0.268332
NRXN1 neurexin 1 0.260538
KLF5 Kruppel-like factor 5 (intestinal) 0.257711
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 0.256299
MYOG myogenin (myogenic factor 4) 0.252422
RBMS1 RNA binding motif, single stranded interacting protein 1 0.250663
IGLL5 immunoglobulin lambda-like polypeptide 5 0.249257
GPC3 glypican 3 0.248554
ERAS ES cell expressed Ras 0.247852
EGLN3 egl-9 family hypoxia-inducible factor 3 0.241895
FBN1 fibrillin 1 0.239799
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 0.238403
APLNR apelin receptor 0.23666
MYEF2 myelin expression factor 2 0.235268
TIMP2 TIMP metallopeptidase inhibitor 2 0.234573
IGF2 insulin-like growth factor 2 0.231448
PAX6 paired box 6 0.226952
HYLS1 hydrolethalus syndrome 1 0.226952
FDFT1 farnesyl-diphosphate farnesyltransferase 1 0.226607
HOXA10 homeobox A10 0.222479
REXO1L1P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1, pseudogene 0.214297
RGMA repulsive guidance molecule family member a 0.213959
PIDD1 p53-induced death domain protein 1 0.212271
COL11A1 collagen, type XI, alpha 1 0.211597
ASPN asporin 0.211261
MYF5 myogenic factor 5 0.210253
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 0.209248
WHSC1 Wolf-Hirschhorn syndrome candidate 1 0.201962
PER2 period circadian clock 2 0.200006
COL4A1 collagen, type IV, alpha 1 0.199356
PRIMA1 proline rich membrane anchor 1 0.195501
JMJD6 jumonji domain containing 6 0.193915
UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 0.192657
TIMP3 TIMP metallopeptidase inhibitor 3 0.189859
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 0.189551
MEGF6 multiple EGF-like-domains 6 0.185313
NPR1 natriuretic peptide receptor 1 0.185016
NOVA2 neuro-oncological ventral antigen 2 0.18472
GUCY2C guanylate cyclase 2C 0.184424
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 0.18151
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3 0.180937
SIX1 SIX homeobox 1 0.172544
NGFR nerve growth factor receptor 0.171286
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit 0.170789
MMP9 matrix metallopeptidase 9 0.167452
TIMP4 TIMP metallopeptidase inhibitor 4 0.165217
PROX1 prospero homeobox 1 0.164786
TGFB2 transforming growth factor, beta 2 0.163729
NPPA natriuretic peptide A 0.161716
MEF2C myocyte enhancer factor 2C 0.160021
BMPR1A bone morphogenetic protein receptor, type IA 0.160021
CDH2 cadherin 2, type 1, N-cadherin (neuronal) 0.160021
ADM adrenomedullin 0.159838
PITX1 paired-like homeodomain 1 0.158097