Congenital Diaphragmatic Hernia Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0235833
Similar Terms
Downloads & Tools

Genes

228 genes associated with the disease Congenital Diaphragmatic Hernia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACE angiotensin I converting enzyme
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
AFP alpha-fetoprotein
AGER advanced glycosylation end product-specific receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ANGPT1 angiopoietin 1
AQP6 aquaporin 6, kidney specific
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ARRDC4 arrestin domain containing 4
ASAH2 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2
AXIN2 axin 2
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CCL2 chemokine (C-C motif) ligand 2
CCN2 cellular communication network factor 2
CD44 CD44 molecule (Indian blood group)
CD79A CD79a molecule, immunoglobulin-associated alpha
CD96 CD96 molecule
CDH15 cadherin 15, type 1, M-cadherin (myotubule)
CDK8 cyclin-dependent kinase 8
CHD2 chromodomain helicase DNA binding protein 2
CHDH choline dehydrogenase
CHMP2B charged multivesicular body protein 2B
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL1A1 collagen, type I, alpha 1
COX7B cytochrome c oxidase subunit VIIb
CRISPLD2 cysteine-rich secretory protein LCCL domain containing 2
CRP C-reactive protein, pentraxin-related
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DES desmin
DHCR7 7-dehydrocholesterol reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DISP1 dispatched homolog 1 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DMRT1 doublesex and mab-3 related transcription factor 1
DPF2 D4, zinc and double PHD fingers family 2
DRD4 dopamine receptor D4
DSEL dermatan sulfate epimerase-like
ECE1 endothelin converting enzyme 1
EDIL3 EGF-like repeats and discoidin I-like domains 3
EDN1 endothelin 1
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
EFNB2 ephrin-B2
EGF epidermal growth factor
EGLN3 egl-9 family hypoxia-inducible factor 3
ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific )
ELN elastin
EMILIN1 elastin microfibril interfacer 1
ENG endoglin
EPAS1 endothelial PAS domain protein 1
EPHB4 EPH receptor B4
EPO erythropoietin
ERN1 endoplasmic reticulum to nucleus signaling 1
ESR1 estrogen receptor 1
FBLN5 fibulin 5
FBN1 fibrillin 1
FGF10 fibroblast growth factor 10
FGF18 fibroblast growth factor 18
FGF7 fibroblast growth factor 7
FGFRL1 fibroblast growth factor receptor-like 1
FLNA filamin A, alpha
FOXA2 forkhead box A2
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXF1 forkhead box F1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FSTL1 follistatin-like 1
FZD2 frizzled class receptor 2
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GDF5 growth differentiation factor 5
GFER growth factor, augmenter of liver regeneration
GJB2 gap junction protein, beta 2, 26kDa
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GPC4 glypican 4
GPI glucose-6-phosphate isomerase
GSTK1 glutathione S-transferase kappa 1
GSTM1 glutathione S-transferase mu 1
HCCS holocytochrome c synthase
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HLX H2.0-like homeobox
HOXB9 homeobox B9
HOXD13 homeobox D13
IGF1R insulin-like growth factor 1 receptor
IGF2R insulin-like growth factor 2 receptor
IL10 interleukin 10
IL4 interleukin 4
INSR insulin receptor
ITGA6 integrin, alpha 6
ITGA8 integrin, alpha 8
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4
KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5
KDM6A lysine (K)-specific demethylase 6A
KIAA0586 KIAA0586
KIF22 kinesin family member 22
KIF7 kinesin family member 7
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
LCN2 lipocalin 2
LEP leptin
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHCGR luteinizing hormone/choriogonadotropin receptor
LLGL1 lethal giant larvae homolog 1 (Drosophila)
LRP2 low density lipoprotein receptor-related protein 2
MCTP2 multiple C2 domains, transmembrane 2
MEF2A myocyte enhancer factor 2A
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MKI67 marker of proliferation Ki-67
MMP2 matrix metallopeptidase 2
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYOD1 myogenic differentiation 1
MYRF myelin regulatory factor
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
NEIL2 nei endonuclease VIII-like 2 (E. coli)
NELFA negative elongation factor complex member A
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
NIPBL Nipped-B homolog (Drosophila)
NOS3 nitric oxide synthase 3 (endothelial cell)
NOSIP nitric oxide synthase interacting protein
NR2F1 nuclear receptor subfamily 2, group F, member 1
NR2F2 nuclear receptor subfamily 2, group F, member 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR4A3 nuclear receptor subfamily 4, group A, member 3
NRG1 neuregulin 1
NSD2 nuclear receptor binding SET domain protein 2
PBX1 pre-B-cell leukemia homeobox 1
PCNA proliferating cell nuclear antigen
PGAP3 post-GPI attachment to proteins 3
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGW phosphatidylinositol glycan anchor biosynthesis, class W
PIM1 Pim-1 proto-oncogene, serine/threonine kinase
PJA1 praja ring finger 1, E3 ubiquitin protein ligase
PMM2 phosphomannomutase 2
POGZ pogo transposable element with ZNF domain
PORCN porcupine homolog (Drosophila)
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RAD21 RAD21 homolog (S. pombe)
RAP1A RAP1A, member of RAS oncogene family
RAP1B RAP1B, member of RAS oncogene family
RARB retinoic acid receptor, beta
RGMA repulsive guidance molecule family member a
RHOA ras homolog family member A
RIPPLY2 ripply transcriptional repressor 2
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila)
RPS19 ribosomal protein S19
RPS28 ribosomal protein S28
RSPO2 R-spondin 2
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SETD5 SET domain containing 5
SFTPA1 surfactant protein A1
SFTPA2 surfactant protein A2
SFTPB surfactant protein B
SFTPC surfactant protein C
SFTPD surfactant protein D
SH2B1 SH2B adaptor protein 1
SIN3A SIN3 transcription regulator family member A
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SLIT3 slit homolog 3 (Drosophila)
SMAD2 SMAD family member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOX11 SRY (sex determining region Y)-box 11
SOX4 SRY (sex determining region Y)-box 4
SOX7 SRY (sex determining region Y)-box 7
SPP1 secreted phosphoprotein 1
STARD8 StAR-related lipid transfer (START) domain containing 8
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STRA6 stimulated by retinoic acid 6
SUFU suppressor of fused homolog (Drosophila)
TBX1 T-box 1
TBX2 T-box 2
TBX4 T-box 4
TBX5 T-box 5
TCF4 transcription factor 4
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TCTE3 t-complex-associated-testis-expressed 3
TEK TEK tyrosine kinase, endothelial
TF transferrin
TGFA transforming growth factor, alpha
TGFB2 transforming growth factor, beta 2
TIMP2 TIMP metallopeptidase inhibitor 2
TM7SF2 transmembrane 7 superfamily member 2
TNF tumor necrosis factor
TRAIP TRAF interacting protein
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TRPS1 trichorhinophalangeal syndrome I
TRRAP transformation/transcription domain-associated protein
TUBA1B tubulin, alpha 1b
TWIST1 twist family bHLH transcription factor 1
UROD uroporphyrinogen decarboxylase
UTP23 UTP23, small subunit (SSU) processome component, homolog (yeast)
VEGFA vascular endothelial growth factor A
WNT11 wingless-type MMTV integration site family, member 11
WNT4 wingless-type MMTV integration site family, member 4
WT1 Wilms tumor 1
XIRP2 xin actin binding repeat containing 2
ZEB2 zinc finger E-box binding homeobox 2
ZFPM2 zinc finger protein, FOG family member 2