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: 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: 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
Entrez Id: 2255
Gene Symbol: FGF10
FGF10
0.010 Biomarker disease BEFREE Impaired FGF10 Signaling and Epithelial Development in Experimental Lung Hypoplasia With Esophageal Atresia. 29732364 2018
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
0.010 Biomarker disease BEFREE Moreover, functionally targeting STAT signaling modulates fetal lung growth, which highlights that STAT3 and STAT6 signaling might be promising therapeutic targets in reducing or preventing pulmonary hypoplasia in CDH. 29310117 2018
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
0.010 Biomarker disease BEFREE Mice lacking integrin subunits α3 (Itga3) and α6 (Itga6) exhibit severe PH. 28701000 2018
Entrez Id: 3655
Gene Symbol: ITGA6
ITGA6
0.010 Biomarker disease BEFREE Mice lacking integrin subunits α3 (Itga3) and α6 (Itga6) exhibit severe PH. 28701000 2018
Entrez Id: 6909
Gene Symbol: TBX2
TBX2
0.010 Biomarker disease BEFREE Furthermore, lungs of Tbx2-, Tbx4- and Tbx5-deficient mice are hypoplastic and exhibit decreased lung branching, similar to PH in human CDH. 27833996 2017
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.010 Biomarker disease BEFREE Our results reveal the suppressed EPO synthesis in the CDH fetus, which may contribute to the pathogenesis of lung hypoplasia and modification of pulmonary vasculature in the CDH rat model.Pediatr Pulmonol.2017;52:606-615. 27880037 2017
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
0.010 Biomarker disease BEFREE Furthermore, lungs of Tbx2-, Tbx4- and Tbx5-deficient mice are hypoplastic and exhibit decreased lung branching, similar to PH in human CDH. 27833996 2017
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
0.010 AlteredExpression disease BEFREE Confocal-laser-scanning-microscopy revealed strikingly diminished Fstl1 immunofluorescence and SP-C expression in distal alveolar epithelium of nitrofen-exposed fetuses with CDH-associated PH on D18 and D21 compared to controls. 28188034 2017