congenital diaphragmatic hernia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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 http://compbio.charite.de/hpoweb/showterm?id=HP:0000776
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Genes

55 genes associated with the congenital diaphragmatic hernia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
B3GAT3 beta-1,3-glucuronyltransferase 3
CD96 CD96 molecule
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL1A1 collagen, type I, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COX7B cytochrome c oxidase subunit VIIb
DACT1 dishevelled-binding antagonist of beta-catenin 1
DHCR7 7-dehydrocholesterol reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLL3 delta-like 3 (Drosophila)
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
FBLN5 fibulin 5
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GPC4 glypican 4
HCCS holocytochrome c synthase
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HOXD13 homeobox D13
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KDM6A lysine (K)-specific demethylase 6A
KIF7 kinesin family member 7
KMT2D lysine (K)-specific methyltransferase 2D
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LRP2 low density lipoprotein receptor-related protein 2
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
NELFA negative elongation factor complex member A
NIPBL Nipped-B homolog (Drosophila)
PORCN porcupine homolog (Drosophila)
RAD21 RAD21 homolog (S. pombe)
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
SH2B1 SH2B adaptor protein 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
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
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
STRA6 stimulated by retinoic acid 6
TPI1 triosephosphate isomerase 1
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WT1 Wilms tumor 1
ZFPM2 zinc finger protein, FOG family member 2