Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100038246
Gene Symbol: TLX1NB
TLX1NB
0.010 Biomarker disease BEFREE <b>Conclusion:</b> The signs of both systolic and diastolic altered function were observed in fetuses with CDH with s-TDI independent of the side of the hernia, and a significant positive correlation was observed between fetal cardiac systolic function and the severity of pulmonary hypoplasia. 31588831 2020
Entrez Id: 3170
Gene Symbol: FOXA2
FOXA2
0.010 Biomarker disease BEFREE This study was the first to show that the miR-130a-5p/Foxa2 axis played a crucial role in CDH-associated pulmonary hypoplasia. 31843527 2020
Entrez Id: 406919
Gene Symbol: MIR130A
MIR130A
0.010 Biomarker disease BEFREE This study was the first to show that the miR-130a-5p/Foxa2 axis played a crucial role in CDH-associated pulmonary hypoplasia. 31843527 2020
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
0.040 GeneticVariation disease BEFREE Gefitinib is well-known as a tyrosine kinase inhibitor targeting non-small-lung-cancer (NSCLC) containing EGFR mutations. 30605061 2019
Entrez Id: 9496
Gene Symbol: TBX4
TBX4
0.030 GeneticVariation disease BEFREE Through exome sequencing, we find that PAPPA syndrome is caused by homozygous TBX4 inactivating mutations during embryogenesis in humans. 31761294 2019
Entrez Id: 9496
Gene Symbol: TBX4
TBX4
0.030 GeneticVariation disease BEFREE In addition to TBX4, the overlapping ∼2 Mb recurrent and nonrecurrent deletions at 17q23.1q23.2 identified in seven individuals with lung hypoplasia also remove a lung-specific enhancer region. 30639323 2019
Entrez Id: 406984
Gene Symbol: MIR200B
MIR200B
0.020 AlteredExpression disease BEFREE We show that late lung hypoplasia in CDH is associated with (compensatory) upregulation of miR-200b in less hypoplastic lungs. 29135495 2019
Entrez Id: 84976
Gene Symbol: DISP1
DISP1
0.010 AlteredExpression disease BEFREE Decreased Disp-1 expression during diaphragmatic development and lung branching morphogenesis may interrupt mesenchymal cell proliferation, thus leading to diaphragmatic defects and PH in the nitrofen-induced CDH model. 30382378 2019
Entrez Id: 960
Gene Symbol: CD44
CD44
0.010 Biomarker disease BEFREE In CDH, consistent with previous studies, our review shows magnetic resonance imaging as a better survival predictor followed by the 3D and 2D methods, while 2D-LHR was the more precise prognosticator correlating prenatal PH, survival at birth, and the need for neonatal respiratory support. 31269833 2019
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.010 Biomarker disease BEFREE In conclusion, we have uncovered novel roles of the mesenchyme-specific Tgf-β1 ligand in embryonic mouse lung development and generated a mouse model that may prove helpful to identify some of the key pathogenic mechanisms underlying lung hypoplasia in humans. 31028279 2019
Entrez Id: 407018
Gene Symbol: MIR27A
MIR27A
0.010 AlteredExpression disease BEFREE Overexpression of microRNA-27a-3p inhibits non-small lung cancer cell proliferation but promotes cell apoptosis. 31319766 2019
Entrez Id: 5597
Gene Symbol: MAPK6
MAPK6
0.010 Biomarker disease BEFREE Loss of ERK3 protein was validated after deletion of Erk3 in the female germ line using zona pellucida 3 (Zp3)-<i>cre</i> and a clear reduction of the protein kinase MK5 is detected, providing the first evidence for the existence of the ERK3/MK5 signaling complex <i>in vivo</i> In contrast to the previously reported Erk3 knockout phenotype, these mice are viable and fertile and do not display pulmonary hypoplasia, acute respiratory failure, abnormal T-cell development, reduction of thymocyte numbers, or altered T-cell selection. 30642948 2019
Entrez Id: 54796
Gene Symbol: BNC2
BNC2
0.010 Biomarker disease BEFREE Untreated LUTO has high rate of perinatal morbidity and mortality from associated pulmonary hypoplasia and early-onset renal failure in infancy. 30819578 2019
Entrez Id: 1008
Gene Symbol: CDH10
CDH10
0.010 Biomarker disease BEFREE All early CDH (10 fetuses) and PH (three fetuses) and 6/15 with CPE had termination of pregnancy or missed abortions. 29720002 2019
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
0.010 GeneticVariation disease BEFREE Mutations in ephrin-B1, a membrane protein that is expressed by mesenchymal cells, have been found in newborn infants with CDH and associated pulmonary hypoplasia (PH), highlighting its important role during diaphragmatic and airway development. 30469162 2019
Entrez Id: 3973
Gene Symbol: LHCGR
LHCGR
0.010 Biomarker disease BEFREE In CDH, consistent with previous studies, our review shows magnetic resonance imaging as a better survival predictor followed by the 3D and 2D methods, while 2D-LHR was the more precise prognosticator correlating prenatal PH, survival at birth, and the need for neonatal respiratory support. 31269833 2019
Entrez Id: 5578
Gene Symbol: PRKCA
PRKCA
0.010 Biomarker disease BEFREE Silencing experiments in non-small lung cancer (NSCLC) cells revealed that PKCε or other DAG-regulated PKCs (PKCα and PKCδ) were dispensable for the acquisition of a mesenchymal phenotype induced by transforming growth factor beta (TGF-β). 30923343 2019
Entrez Id: 6300
Gene Symbol: MAPK12
MAPK12
0.010 Biomarker disease BEFREE Loss of ERK3 protein was validated after deletion of Erk3 in the female germ line using zona pellucida 3 (Zp3)-<i>cre</i> and a clear reduction of the protein kinase MK5 is detected, providing the first evidence for the existence of the ERK3/MK5 signaling complex <i>in vivo</i> In contrast to the previously reported Erk3 knockout phenotype, these mice are viable and fertile and do not display pulmonary hypoplasia, acute respiratory failure, abnormal T-cell development, reduction of thymocyte numbers, or altered T-cell selection. 30642948 2019
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.110 AlteredExpression disease BEFREE Decreased Gata-6 expression during diaphragmatic development and lung branching morphogenesis may disrupt mesenchymal cell proliferation, causing malformed PPFs and reduced airway branching, thus leading to diaphragmatic defects and pulmonary hypoplasia in the nitrofen-induced CDH model. 29196881 2018
Entrez Id: 8516
Gene Symbol: ITGA8
ITGA8
0.110 Biomarker disease BEFREE Decreased expression of Itga3, Itga6, and Itga8 in the pulmonary mesenchyme may lead to disruptions in airway branching morphogenesis, thus contributing to PH in the nitrofen-induced CDH model. 28701000 2018
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.020 Biomarker disease BEFREE Provision of VEGF has been demonstrated to be beneficial in hyperoxia-induced bronchopulmonary dysplasia, and hence could induce lung growth and improve the outcome in hypoplastic lung diseases. 29638228 2018
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.020 Biomarker disease BEFREE Vascular endothelial growth factor (VEGF) has previously been demonstrated to accelerate compensatory lung growth (CLG) in mice and may be a useful therapy for pulmonary hypoplasia. 29879188 2018
Entrez Id: 3161
Gene Symbol: HMMR
HMMR
0.010 AlteredExpression disease BEFREE Lung hypoplasia appeared in two distinctive groups, with significant differences in lung development and RHAMM expression. 30312861 2018
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
0.010 GeneticVariation disease BEFREE In addition to having congenital dysmorphic features, the child developed multiple DICER1 syndrome-related tumors before age 5 y: a pediatric cystic nephroma (pCN), a ciliary body medulloepithelioma (CBME), and a small lung cyst (consistent with occult pleuropulmonary blastoma Type I/Ir cysts seen in DICER1 mutation carriers). 29315962 2018
Entrez Id: 55706
Gene Symbol: NDC1
NDC1
0.010 AlteredExpression disease BEFREE Known that TMEM48 gene overexpressed in non-small lung cancer cells. 29906465 2018